DNB

Pediatrics
NOTES
BASED ON

1
 INDEX

TOPIC PAGE
1. ACUTELY ILL CHILD 3
2. ADOLESCENCE 30
3. ALLERGY 33
4. BEHAVIOUR 42
5. CNS 53
6. CVS 104
7. ENDOCRINE 118
8. ENVIRONMENT 127
9. EYE, EAR, SKIN, RHEUMATOLOGY 131
10. METABOLIC 162
11. GENETIC 167
12. GIT 174
13. GROWTH 234
14. HEMATOLOGY 245
15. INFECTIOUS DISEASE 272
16. IMMUNOLOGY 321
17. NEPHROLOGY 330
18. ONCOLOGY 348
19. PULMONOLOGY 357
20. UROLOGY 413
21. NUTITION 417
22. FLUID AND ELECTROLYTES 435
23. MISCELLANEOUS 451
1.Developmental anomalies of lung
2.Cystic adenomatoid malformation
3.Epistaxis
4.Pulmonary function tests
5.Diaphragmatic hernia
6.PEDIATRIC INTERSTITIAL
LUNG DISEASES
7.Genetic Counselling
8.Cytogenetics
9.Dialysis/ renal replacement therapy
10.ADHD
11.PALS
12.HIGH RISK PREGNANCY

2
 ACUTELY ILL CHILD

1. BRAIN DEATH:
2. Shock:
3. INTERNATIONAL CONSENSUS DEFINITIONS FOR PEDIATRIC SEPSIS
4. RESPIRATORY FAILURE:
5. DROWNING:
6. BURNS:
7. Electrical burns:
8. Cold injury:
9. PEDIATRIC PAIN MANAGEMENT:
10. Heat injuries
11. RSI
12. Outcome measurement

3
1. BRAIN DEATH:
Brain death is the irreversible cessation of all functions of the entire brain, including the brainstem.
It is also known as the determination of death using neurologic criteria.
Clinical Manifestations:
Brain death is primarily a clinical diagnosis.
The 3 key components of clinical brain death diagnosis are demonstrations of
Irreversible coma/unresponsiveness
Absence of brainstem reflexes and Apnea.
Irreversible coma/unresponsiveness:
Before a determination of brain death may be made, it is of utmost importance that the cause of the
coma be determined through the use of historical, radiologic, and laboratory data to rule out a
reversible condition.
Potentially reversible causes of coma include metabolic disorders, toxins, sedative drugs, paralytic
agents, hypothermia, hypoxia, hypotension/shock, hypoglycemia/hyperglycemia,
hyponatremia/hypernatremia, hypercalcemia, hypermagnesemia, nonconvulsive status epilepticus,
hypothyroidism, hypocortisolism, hypercarbia, liver or renal failure, sepsis, meningitis, encephalitis,
SAH, and surgically remediable brainstem lesions.
Some complex spinal movements may be particularly pronounced following removal of the
ventilator like Lazarus sign, which consists of extension of the upper extremities followed by flexion
of the arms with the hands reaching to midsternal level.
The apnea test assesses the function of the medulla in driving ventilation.
 It is performed by first ensuring the adequacy of hemodynamics and temperature and the
absence of apnea-producing drug effects or significant metabolic derangements.
 The test is performed by first preoxygenating the patient with 100% oxygen for
approximately 10 min and adjusting ventilation to achieve a Pco2 of about 40 mm Hg.
 A baseline blood gas result documents the starting values. During the test, oxygenation must
be maintained. Throughout the test, the child is assessed for breathing efforts through
observation and auscultation.
 A blood gas sample is obtained approximately 10 min into the test and every 5 min thereafter
until the target Pco2 is surpassed; ventilatory support is resumed at that time.
 If at any point during the test the patient becomes hypoxic or hypotensive, the test is aborted
and ventilatory support is resumed.
 Absence of respiratory efforts with a Pco2 > 60 mm Hg or more that 20 mm Hg above an
elevated baseline value is consistent with brain death.

BRAINSTEM REFLEX TESTING TO DETERMINE BRAIN DEATH (total 5)

BRAINSTEM HOW TO PERFORM THE What happens What happens in brain
REFLEX EXAM normally death
Pupillary light Shine a light into the eyes Constriction of pupils on Midposition (4-6 mm) or
reflex while closely observing stimulation with light fully dilated pupils that are
4
BRAINSTEM HOW TO PERFORM THE What happens What happens in brain
REFLEX EXAM normally death
pupillary size not reactive to light are
consistent with brain death.
Pinpoint pupils, even if
nonreactive, are not
consistent with brain death.
Manually rotate the patient's In an intact patient, the
head side to side and closely eyes remain fixed on a
In a result consistent with
Oculocephalic watch the position of the distant spot, as if
brain death, the eyes move
reflex (doll's eyes. maintaining eye contact
in concert with the patient's
eyes reflex) (Should not be performed in a with that spot.
head movement.
patient with a cervical spine
injury.)
In the intact patient, the
In a result consistent with
Touch the patient's cornea touch results in eyelid
Corneal reflex brain death, there is no
with a cotton swab. closure, and the eye may
response.
rotate upward.
Irrigate the tympanic Cold water same side
Absence of eye movement
Oculovestibular membrane with iced water or deviation of eye
is consistent with brain
reflex saline and look for eye
death.
movement.
Touch the posterior pharynx cough is initiated
with a tongue depressor or a immediately
cotton-tipped swab to Absence of both a cough
Gag and cough
stimulate a gag. Advance a and a gag is consistent with
reflex
suction catheter through the brain death.
endotracheal tube to the
carina to stimulate a cough.

Observation Periods:
To establish the diagnosis of brain death, the findings must remain consistent over a period of
observation.
For children aged 7 days to 2 mo, 2 examinations separated by at least 48 hr are recommended.
For children aged 2 mo to 1 yr, 2 examinations separated by at least 24 hr are recommended.
For children older than 1 yr the recommendation is a 12-hr observation period between exams.
Confirmatory Tests:
The 2 most commonly used confirmatory tests are EEG and studies to confirm the absence of CBF,
such as nuclear medicine cerebral flow scans.
Supportive Care:

Following a diagnosis of brain death, supportive care may continue for hours to days as the family
makes decisions about potential organ donation and comes to terms with the diagnosis.

2. Shock:

Def: Shock is an acute syndrome characterized by the body's inability to deliver adequate oxygen to
meet the metabolic demands of vital organs and tissues.

Initially, shock may be well compensated, but it may rapidly progress to an uncompensated state
5
requiring more aggressive therapies to achieve clinical recovery or improvement. Untreated shock
causes irreversible tissue and organ injury (i.e., irreversible shock) and, ultimately, death.

TYPES OF SHOCK
DISTRIBUTI OBSTRUCTIV
HYPOVOLEMIC CARDIOGENIC SEPTIC
VE E
Encompasses
multiple forms of
shock Decreased
Hypovolemic: third cardiac output
Abnormalities spacing of fluids into secondary to
Decreased preload of vasomotor the extracellular, direct
Cardiac pump failure interstitial space
secondary to tone due to impediment to
secondary to poor
internal or external loss of venous Distributive: early right or left
myocardial function
losses and arterial shock with decreased heart outflow or
capacitance afterload restriction of all
Cardiogenic: cardiac
depression of chambers
myocardial function
by endotoxins
POTENTIAL ETIOLOGIES
Anaphylaxis Tension
Neurologic: pneumothorax
Blood loss: Congenital heart
disease loss of Pericardial
hemorrhage; Bacterial
sympathetic tamponade
Plasma loss: Cardiomyopathies: vascular Viral
infectious or Pulmonary
burns, nephrotic tone Fungal
acquired, dilated embolism
syndrome; secondary (immunocompromised
or restrictive Anterior
Water/electrolyte to spinal patients are at
Ischemia mediastinal
loss: vomiting, cord or increased risk)
masses
diarrhea Arrhythmias brainstem
injury Critical
coarctation of
Drugs the aorta

Algorithm for decompensated shock:

6
CLINICAL FEATURES:

SIGNS OF DECREASED PERFUSION

ORGAN SYSTEM ↓↓↓ PERFUSION

Central nervous system Agitated/confused, stuporous, coma
Respiration ↑↑ Ventilation
Metabolism Uncompensated metabolic acidemia
Gut Ileus

Kidney Oliguria/anuria

Skin Mottled, cyanotic, cold extremities

Cardiovascular system ↑↑ Heart rate ↓ Blood pressure, central pulses only

7
Pathophysiology of septic shock:

8
INTERNATIONAL CONSENSUS DEFINITIONS FOR PEDIATRIC SEPSIS
Suspected or proven infection or a clinical syndrome associated with high
Infection
probability of infection
2 out of 4 criteria, 1 of which must be abnormal temperature or abnormal
leukocyte count:
1 Core temperature >38.50C or <360C (rectal, bladder, oral, or central
catheter)
2 Tachycardia:
Mean heart rate >2 SD above normal for age in absence of
\ external stimuli, chronic drugs or painful stimuli
OR
Systemic inflammatory Unexplained persistent elevation over 0.5-4 hr
response syndrome OR
(SIRS)
In children <1 year old, persistent bradycardia over 0.5 hour
(mean heart rate <10th percentile for age in absence of vagal
stimuli, β-blocker drugs, or congenital heart disease)
3 Respiratory rate >2 SD above normal for age or acute need for
mechanical ventilation not related to neuromuscular disease or general
anesthesia
4 Leukocyte count elevated or depressed for age (not secondary to
chemotherapy) or >10% immature neutrophils
Sepsis SIRS plus a suspected or proven infection
Sepsis plus 1 of the following:
1 Cardiovascular organ dysfunction, defined as:
• Despite >40 mL/kg of isotonic intravenous fluid in 1 hour:
Hypotension <5th percentile for age or systolic blood pressure <2
SD below normal for age
OR
• Need for vasoactive drug to maintain blood pressure
OR
• 2 of the following:
Severe sepsis • Unexplained metabolic acidosis: base deficit > 5 mEq/L
• Increased arterial lactate: >2 times upper limit of normal
• Oliguria: urine output <0.5 mL/kg/hr
• Prolonged capillary refill: >5 sec
• Core to peripheral temperature gap >30C
2 Acute respiratory distress syndrome (ARDS) as defined by the
presence of a Pao2/Fio2 ratio ≤300 mm Hg, bilateral infiltrates on chest
radiograph, and no evidence of left heart failure
OR
9
 Sepsis plus 2 or more organ dysfunctions (respiratory, renal,
neurologic, hematologic, or hepatic)
Septic shock Sepsis plus cardiovascular organ dysfunction as defined above
Multiple organ
Presence of altered organ function such that homeostasis cannot be
dysfunction syndrome
maintained without medical intervention
(MODS)

TREATMENT: GOAL-DIRECTED THERAPY OF ORGAN SYSTEM DYSFUNCTION IN

SHOCK (6)

SYSTEM DISORDERS THERAPIES

Acute respiratory distress
Oxygen
syndrome
Early endotracheal intubation and mechanical
Respiratory muscle fatigue
ventilation
Respiratory
Positive end-expiratory pressure (PEEP)
Permissive hypercapnia
Central apnea
High-frequency ventilation
Extracorporeal membrane oxygenation (ECMO)
Judicious fluid resuscitation
Low-dose dopamine
Prerenal failure
Establishment of normal urine output and blood
Renal Renal failure pressure for age
Furosemide (Lasix)
Dialysis, ultrafiltration, hemofiltration
Vitamin K
Coagulopathy (disseminated
Fresh frozen plasma
intravascular coagulation)
Hematologic Platelets
Heparinization
Thrombosis
Activated protein C
Histamine H2 receptor–blocking agents or proton
Stress ulcers pump inhibitors
Gastrointestinal Nasogastric tube
Ileus
Early enteral feedings
Bacterial translocation

Adrenal insufficiency, Stress-dose steroids in patients previously given

Endocrine primary or secondary to steroids
chronic steroid therapy Physiologic dose for presumed primary
10
SYSTEM DISORDERS THERAPIES
insufficiency in sepsis
Treatment of hypovolemia (fluids), poor cardiac
function (fluids, inotropic agents)
Metabolic Metabolic acidosis
Low-dose (0.5-2 mEq/kg) sodium bicarbonate if
the patient is not showing response, pH < 7.1,
and ventilation (CO2 elimination) is adequate

CARDIOVASCULAR DRUG TREATMENT OF SHOCK

DOSING
DRUG EFFECT(S) COMMENT(S)
RANGE
3-20 ↑ Risk of arrhythmias at high
↑ Cardiac contractility
mcg/kg/min doses
Dopamine Significant peripheral
vasoconstriction at >10
mcg/kg/min
↑ Heart rate and ↑ cardiac May ↓ renal perfusion at high
contractility 0.05-3.0 doses
Epinephrine
mcg/kg/min ↑ Myocardial O2 consumption
Potent vasoconstrictor
Risk of arrhythmia at high doses
↑ Cardiac contractility 1-10
Dobutamine —
Peripheral vasodilator mcg/kg/min
↑ Blood pressure secondary to ↑
Potent vasoconstriction
0.05-1.5 systemic vascular resistance
Norepinephrine
No significant effect on cardiac mcg/kg/min
↑ Left ventricular afterload
contractility
0.5-2.0 Can cause sudden hypertension
Phenylephrine Potent vasoconstriction
mcg/kg/min ↑ O2 consumption

VASODILATORS/AFTERLOAD REDUCERS
DOSING
DRUG EFFECT(S) COMMENT(S)
RANGE
Rapid effect
0.5-4.0
Nitroprusside Vasodilator (mainly arterial) Risk of cyanide toxicity with
mcg/kg/min
prolonged use (>96 hours)

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 DOSING
DRUG EFFECT(S) COMMENT(S)
RANGE
Rapid effect
1.0-20
Nitroglycerin Vasodilator (mainly venous) Risk of increased intracranial
mcg/kg/min
pressure
Vasodilator Can lead to hypotension
Prostaglandin Maintains an open ductus 0.01-0.2
E1 arteriosus in the newborn with mcg/kg/min
Risk of apnea
ductal-dependent congenital heart
disease
Phosphodiesterase
Load 50
inhibitor—slows cyclic
Milrinone Increased cardiac contractility mcg/kg over 15
adenosine monophosphate
min
breakdown
Improves cardiac diastolic 0.5-1
function mcg/kg/min
Peripheral vasodilatation

ALGORITHM FOR SHOCK:

12
13
3. RESPIRATORY FAILURE:

Respiratory failure occurs when oxygenation and ventilation are insufficient to meet the metabolic
demands of the body.

Respiratory failure may result from an abnormality in lung disease or respiratory pump failure

Lung disease Respiratory pump failure

1. Central airway obstruction 1. Chest wall deformity
Croup, epiglottitis, FB Flial chest, kyphoscoliosis
2. Peripheral airway obstruction 2. Brainstem
Bronchiolitis, Bronchial asthma Trauma, sleep apnea, poisoning
3. Diffuse alveolar damage 3. Spinal cord - SMA, trauma
Pneumonia, ILD, aspiration 4. Neuromuscular- GBS, myasthenia,

SIMPLIFIED CONSENSUS DEFINITION OF ACUTE LUNG INJURY

• Acute onset (<7 days)
• Severe hypoxemia (Pao2/Fio2 < 300 for acute lung injury, or <200 for acute respiratory distress
syndrome)
• Diffuse bilateral pulmonary infiltrates on frontal radiograph consistent with pulmonary edema
(these can be patchy and asymmetric, and pleural effusions can be present)
• Absence of left atrial hypertension (pulmonary artery wedge pressure <18 mm Hg if measured)

Pathophysiology of Respiratory Failure

Respiratory failure can be classified into 2 categories:

Type 1 hypoxic respiratory failure (failure of oxygenation) and

Type 2 hypercarbic respiratory failure (failure of ventilation).

The two entities may coexist as a combined failure of oxygenation and ventilation.

The main function of the respiratory system is to move atmospheric gases into the alveolar capillary
units of the lung and to move alveolar gas back out into the atmosphere.

The arterial gas composition depends on the (doc put one diagram here indicating all four things)

1. Gas composition of the atmosphere (inhalational injury)

2. Effectiveness of alveolar ventilation (pneumonia, aspiration pneumonia, severe trauma)

3. Pulmonary capillary perfusion (reperfusion injury, DIC, burns, sepsis, pancreatitis, drug overdose,)

4. Diffusion across the alveolar capillary membrane (drowning)

Abnormality at any of these steps can result in respiratory failure.

Monitoring:

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Clinical examination Pulse oximetry Chest x ray Capnography

Blood gases DLCO

MANAGEMENT:

1. Control of causative factors.

2. Careful fluid administration.

3. Oxygen administration: nasal cannula, SFM, bubble humidifier, venturi and NRM.

4. Air way adjuncts: oropharyngeal and nasopharyngeal air way

5. Inhaled gases: heliox, nitric oxide

6. Surfactant, corticosteroids and other nsiads.

7. Positive pressure respiratory support: CPAP and BiPAP

8. Endotracheal intubation and ventilation.

9. Positioning (prone ventilation)

10. HFOV, liquid ventilation

11. Supportive therapy: analgesia, sedation, nutrition and psychological support

5. DROWNING:

Drowning is a leading cause of childhood morbidity and mortality in the world.

“Drowning is the process of experiencing respiratory impairment from submersion/immersion in

liquid.”

The outcome should be denoted as fatal or nonfatal drowning.

Epidemiology:

The risk of drowning and the circumstances leading to it vary by age.

Drowning risk also relates to male gender, exposure to water, and supervision.

Children Younger than 1 Year

Most (71%) drowning deaths in children younger than 1 yr occur in the bathtub, when an infant is
left alone or under the “supervision” of an older sibling.

Children 1-4 Years

Drowning rates are consistently highest in 1 to 4 yr old children, likely because of their curious but
unaware nature coupled with the rapid progression of their physical capabilities. In rural areas,
15
children in this age group often drown in irrigation ditches or nearby ponds and rivers.

School-aged Children:

School-aged children are at increased risk of drowning in natural bodies of water such as lakes,
ponds, rivers, and canals.

Underlying Conditions:

Alcohol Use
Substance abuse
Sports and Recreation

Pathophysiology:

Once submersion occurs, all organs and tissues are at risk for hypoxia. In minutes, hypoxia leads to
coma and then cardiac arrest, adding ischemia to the succession of events.

1. Anoxic-Ischemic Injury:

After submersion small amounts of water enter the hypopharynx, triggering laryngospasm.

There is a progressive decrease in arterial blood oxygen saturation (Sao2), and soon loses
consciousness from hypoxia.

Profound hypoxia and medullary depression lead to terminal apnea.

At the same time, the cardiovascular response leads to progressively decreasing cardiac output and
oxygen delivery.

2. Pulmonary Injury:

Pulmonary aspiration occurs in a majority of drowning victims, but the amount aspirated is usually
small. Aspirated water does not obstruct airways and is readily moved into the pulmonary circulation
with positive pressure ventilation. It can wash out surfactant and cause alveolar instability,
ventilation-perfusion mismatch, and intrapulmonary shunting.

3. Hypothermia:

Hypothermia is common after submersion. It is often categorized, according to core body

temperature measurement, as mild (34-360C), moderate (30-340C), or severe (<300C).

Most often hypothermia is a poor prognostic sign, and a neuroprotective effect has not been
demonstrated. As core temperature drops to <350C, cognition, coordination, and muscle strength
become progressively impaired.

The likelihood of self-rescue decreases at this point.

With progressive hypothermia, there may be loss of consciousness, water aspiration, decreases in
heart rate and cardiac output, ineffective breathing, and cardiac arrest.

Management:

1. Initial Evaluation and Resuscitation:

16
Initial resuscitation must focus on rapidly restoring oxygenation, ventilation, and adequate circulation.
Abdominal thrusts should not be used. Once a submersion has occurred, immediate institution of
CPR efforts at the scene is imperative. The goal is to reverse the anoxia from submersion and prevent
secondary hypoxic injury after submersion.

2. Hospital-Based Evaluation and Treatment:

Pediatric drowning victims probably should be observed for at least 6-8 hr, even if they are
asymptomatic on presentation to the ED. At a minimum, serial monitoring of vital signs (respiratory
rate, heart rate, blood pressure, and temperature) and of oxygenation by pulse oximetry, repeated
pulmonary examination, and neurologic assessment should be performed in all drowning victims.

3. Renal: Diuretics, fluid restriction, and dialysis are occasionally needed to treat fluid overload or
electrolyte disturbances.

4. GI: Bowel rest, nasogastric suction, and gastric pH neutralization.

5. Hypothermia Management:

Damp clothing should be removed from all drowning victims. The goal is to prevent or treat
moderate or severe hypothermia. Rewarming measures are generally categorized as passive, active
external, or active internal. Passive rewarming measures include the provision of dry blankets, a
warm environment, and protection from further heat loss.

PROGNOSIS:

The outcomes for drowning victims are remarkably bimodal: The great majority of victims either
have a good outcome (intact or mild neurologic injury) or a bad outcome (persistent vegetative state
or death), with very few exhibiting intermediate neurologic injury. Of hospitalized pediatric
drowning victims, 15% die and as many as 20% survive with severe permanent neurologic damage.

APPROACH TO DROWNING-PREVENTION
STRATEGIES
HOME RECREATION NEIGHBOURHOOD
Swimming pools Swimming Irrigation ditches
Water Ponds pools
hazards Bathtubs Water drainage
Large buckets

Lapse in supervision

Lapse in supervision
Delayed discovery of child
Common Risky behavior when with
risks Reliance on water wings or
peers
pool toys
Reliance on sibling or bath
seat for bathing supervision

17
 HOME RECREATION NEIGHBOURHOOD
Provide constant
adult supervision
Educate families on hazards
and risks Swim in
lifeguarded areas
Provide constant adult
supervision of infants and
small children Avoid alcohol and
other drugs Provide constant adult
Install isolation fencing of
supervision
pools
Teach children Fence, cover, or fill in ditches
Prevention Install rescue equipment and
about water safety to prevent access to water
strategies phone at poolside
Recognize Provide fenced-in “safe area”
Learn swimming and water
limitations of for children to play
survival skills
swimming ability
Individuals with epilepsy
should shower and avoid Be aware of
bathtubs current weather
and water
Learn first aid and CPR conditions
Learn first aid and
CPR

6. BURNS:

Burns are a leading cause of unintentional death in children, second only to motor vehicle crashes.

CATEGORIES OF BURN DEPTH

2ND-DEGREE, OR
1ST-DEGREE 3RD-DEGREE, OR
PARTIAL-THICKNESS,
BURN FULL-THICKNESS, BURN
BURN
Dry, no
blisters Moist blebs, blisters
Underlying tissue is mottled Dry, leathery eschar
Minimal or no
Surface edema pink and white, with fair soot-stained
appearance capillary refill. No blanching or bleeding
Erythematous
Bleeds
Blanches,
bleeds
Pain Very painful Very painful Insensate
Epidermis, papillary, and
reticular layers of dermis Down to and may include fat,
Histologic Epidermal layers
subcutaneous tissue, fascia,
depth only May include domes of muscle, and bone
subcutaneous layers

18
 2ND-DEGREE, OR
1ST-DEGREE 3RD-DEGREE, OR
PARTIAL-THICKNESS,
BURN FULL-THICKNESS, BURN
BURN
Superficial: 5-21 days with
no grafting
Large areas require grafting, but
2-5 days with no Deep partial: 21-35 days small areas may heal from the
Healing time
scarring with no infection; edges after wks
if infected, converts to
full-thickness burn

Estimation of Body Surface Area for a Burn:

The rule of nines used in adults may be used only in children older than 14 yr or as a very rough
estimate to institute therapy before transfer to a burn center.

In small burns, <10% of BSA, the rule of palm may be used, especially in outpatient settings: The
area from the wrist crease to the finger crease (the palm) in the child equals 1% of the child's BSA.
The variable growth rate of the head and extremities throughout childhood makes it necessary to use
BSA charts, such as that modified by Lund and Brower.

INDICATIONS FOR HOSPITALIZATION FOR BURNS

1. Burns affecting >15% of body surface area
2. 3rd-degree burns
3. Electrical burns caused by high-tension wires or lightening
4 Chemical burns
5 Inhalation injury, regardless of the amount of body surface area burned
6 Inadequate home or social environment
7 Suspected child abuse or neglect
8 Burns to the face, hands, feet, perineum, genitals, or major joints
9 Burns in patients with preexisting medical conditions that may complicate the acute recovery
phase
10 Associated injuries (fractures)

19
 11 Pregnancy

ACUTE TREATMENT OF BURNS:

1. Fluid Resuscitation

For most children, the Parkland formula is an appropriate starting guideline for fluid resuscitation
(4 mL lactated Ringer solution /kg/% BSA burned). Half of the fluid is given over the 1st 8 hr,
calculated from the time of onset of injury; the remaining fluid is given at an even rate over the next
16 hr.

A 5% albumin infusion may be used to maintain the serum albumin levels at a desired 2 g/dL.

Infusion of packed red blood cells is recommended if the hematocrit falls to <24% (hemoglobin = 8
g/dL).

Fresh frozen plasma may be used for volume resuscitation within 72 hr of injury in patients younger
than 2 yr with burns over 20% of BSA and associated inhalation injury.

2. Nutritional Support: Calories are provided at approximately 1.5 times the basal metabolic rate,
with 3-4 g/kg of protein/day. Multivitamins, particularly the B vitamin group, vitamin C, vitamin A,
and zinc, are also necessary.

3. Pain Relief and psychological adjustment:

It is important to provide adequate analgesia, anxiolytics, and psychologic support to reduce early
metabolic stress, decrease the potential for post-traumatic stress syndrome, and allow future
stabilization as well as physical and psychologic rehabilitation.

4. Control of bacterial wound flora.

5. Use of biologic and synthetic dressings to close the wound (0.5% silver nitrate solution, silver
sulfadiazine cream, or mafenide acetate) (porcine xerograft, biobrane, hydrocolloid dressings).

BURN PROPHYLAXIS

PREVENT FIRES
1. Install and use smoke detectors
2. Control the hot water thermostat
3. Keep fire, matches, and lighters out of the reach of children
4. Avoid cigarette smoking, especially in bed
5. Do not leave lit candles unattended
6. Use flame retardant–treated clothing
7. Use caution when cooking, especially with oil
8. Keep cloth items off heaters

PREVENT INJURY
1. Roll, but do not run, if clothing catches fire;
2. wrap in a blanket
3. Practice escape procedures
4. Crawl beneath smoke if a fire occurs indoors
5. Use educational materials and fire extinguishers.
20
7. Electrical burns: 3 types

1. Minor electrical burns usually occur as a result of biting on an extension cord. These injuries
produce localized burns to the mouth, which usually involve the portions of the upper and lower lips
that come in contact with the extension cord. Because these are nonconductive injuries (do not extend
beyond the site of injury), hospital admission is not necessary and care is focused on the area of the
injury visible in the mouth. Treatment with topical antibiotic creams is sufficient until the patient is
seen in a burn unit outpatient department or by a plastic surgeon.

2. A more serious category of electrical burn is the high-tension electrical wire burn, for which
children must be admitted for observation, regardless of the extent of the surface area burn. Deep
muscle injury is typical and cannot be readily assessed initially. Such injuries have a mortality rate of
3-15% for children who arrive at the hospital for treatment. The electrical path, from entrance to exit,
takes the shortest distance between the 2 points and may produce injury in any organ or tissue in the
path of the current.

3. Lightning burns occur when a high-voltage current directly strikes a person (most dangerous) or
when the current strikes the ground or an adjacent (in-contact) object. Lightning burns depend on 1.
the current path, 2. the type of clothing worn, 3. the presence of metal, and 4. cutaneous moisture.
Feathering or an arborescent pattern is characteristic of lightning injury.

ELECTRICAL INJURY: CLINICAL

CONSIDERATIONS

CLINICAL MANIFESTATIONS MANAGEMENT

Extricate the patient; perform
ABCs of resuscitation;
immobilize the spine
History: voltage, type of current
1. General
Complete blood count with
platelets, electrolytes, blood urea
nitrogen (BUN), creatinine,
glucose
Treat dysrhythmias
Cardiac monitor,
Dysrhythmias: asystole, ventricular fibrillation,
electrocardiogram, and
sinus tachycardia, sinus bradycardia, premature
radiographs with suspected
2. Cardiac atrial contractions (PACs), premature
thoracic injury
ventricular contractions (PVCs), conduction
defects, atrial fibrillation, ST-T wave changes Creatinine phosphokinase with
isoenzyme measurements if
indicated
Protect and maintain the airway
acute respiratory distress, aspiration syndrome, Mechanical ventilation if
3. Pulmonary
Respiratory arrest. indicated, chest radiograph,
arterial blood gas levels
4. Renal Acute renal failure, myoglobinuria Provide aggressive fluid
21
 management unless a central
nervous system injury is present
Maintain adequate urine output,
>1 mL/kg/hr
Consider central venous or
pulmonary artery pressure
monitoring
Measure urine myoglobin;
perform urinalysis; measure
BUN, creatinine
Immediate: loss of consciousness, motor Treat seizures
paralysis, visual disturbances, amnesia, Provide fluid restriction if
agitation; intracranial hematoma indicated
5. Neurologic Secondary: pain, paraplegia, brachial plexus
injury, syndrome of inappropriate antidiuretic Consider spine radiographs,
hormone secretion (SIADH), autonomic especially cervical
disturbances, cerebral edema
Delayed: paralysis, seizures, headache, CT scan of the brain if indicated
Search for the entrance/exit
wound
Oral commissure burns, tongue and dental Treat cutaneous burns;
6. Cutaneous/oral injuries; skin burns resulting from ignition of determine the tetanus status
clothes, entrance and exit burns, and arc burns
Obtain a plastic surgery of ear,
nose, and throat consultation if
needed
Place a nasogastric tube if the
patient has airway compromise
or ileus
Viscus perforation and solid organ damage;
7. Abdominal Obtain SGOT, SGPT, amylase,
ileus.
BUN, and creatinine
measurements and, CT scans as
indicated
Compartment syndrome from subcutaneous Monitor the patient for possible
necrosis limb edema and deep burns compartment syndrome
8.Musculoskeletal Obtain radiographs and
Long bone fractures, spine injuries orthopedic/general surgery
consultations as indicated
Visual changes, optic neuritis, cataracts, Obtain an ophthalmology
9. Ocular
extraocular muscle paresis consultation as indicated

8. Cold injury:
Cold injury may produce either local tissue damage, with the injury pattern depending on exposure to

1. Damp cold (frostnip, immersion foot, or trench foot), 2. Dry cold (which leads to local
frostbite),
3. Generalized systemic effects (hypothermia) 4. Others (chill blains,
22
panniculitis).

Pathophysiology:
Ice crystals may form between or
within cells,

interfering with the sodium pump,

lead to rupture of cell membranes.

Blood may be shunted away from an affected area

damage to injured part

secondary neurovascular responses

clumping of red blood cells or platelets, causing
microembolism or thrombosis.

Clinical manifestations:

Frostnip: firm, cold, white areas on the face, ears, or extremities. Blistering and peeling may occur.
Treatment consists of warming the area with an unaffected hand or a warm object.

Immersion Foot (Trench Foot): Immersion foot occurs in cold weather when the feet remain in
damp or wet, poorly ventilated boots. The feet become cold, numb, pale, edematous, and clammy.
Tissue maceration and infection are likely. The treatment is largely prophylactic and consists of using
well-fitting, insulated, waterproof, nonconstricting footwear.
Frostbite: initial stinging or aching of the skin progresses to cold, hard, white aesthetic
and numb areas. On rewarming, the area becomes blotchy, itchy, and often red, swollen, and painful.

Treatment consists of

1. Warming the damaged area.

2. Anti-inflammatory agents and an analgesic agent is necessary.

3. Freeze and rethaw cycles are most likely to cause permanent tissue injury.

4. The affected area should be immersed in warm water (approximately 420C), with care taken not
to burn the anesthetized skin.

5. Vasodilating agents, such as prazosin and phenoxybenzamine, may be helpful.

6. Surgical sympathectomy has also been equivocal.

Chilblain (Pernio):

Chilblain (pernio) is a form of cold injury in which erythematous, vesicular, or ulcerative lesions
occur. They are often itchy, may be painful, and result in swelling and scabbing. The lesions are most
often found on the ears, the tips of the fingers and toes, and exposed areas of the legs. Treatment
consists of prophylaxis: avoiding prolonged chilling and protecting potentially susceptible areas with
a cap, gloves, and stockings. Prazosin and phenoxybenzamine. For significant itching, local
corticosteroid preparations may be helpful.

23
Cold-Induced Fat Necrosis (Panniculitis)

A common, usually benign injury, cold-induced fat necrosis occurs upon exposure to cold air, snow,
or ice and manifests in exposed (or, less often, covered) surfaces as red (or, less often, purple to blue)
macular, papular, or nodular lesions. Treatment is with nonsteroidal anti-inflammatory agents. The
lesions may last 10 days to 3 wk.

9. PEDIATRIC PAIN MANAGEMENT:

Pain is defined by the International Association for the Study of Pain (IASP) as “an unpleasant
sensory and emotional experience associated with actual or potential tissue damage or described in
terms of such damage.

PAIN CATEGORIES AND

CHARACTERISTICS
PAIN DEFINITION AND
CHARACTERISTICS
CATEGORY EXAMPLES
Pain resulting from
injury to or
inflammation of tissues
In skin and superficial structures: sharp; pulsatile;
(skin, muscle, tendons,
well-localized
bone, joints, fascia,
Somatic vasculature, etc.) In deep somatic structures: dull; aching; pulsatile;
not well-localized
Examples: burns,
lacerations, fractures,
infections, inflammatory
conditions
Pain resulting from
injury to or
inflammation of viscera Aching and cramping; nonpulsatile; poorly localized
(e.g., appendiceal pain perceived around umbilicus) or
Visceral Examples: angina, bowel referred to distant locations (e.g., angina perceived
distention or in shoulder)
hypermobility,
pancreatitis
Pain resulting from
injury to, inflammation Spontaneous; burning; lancinating or shooting;
of, or dysfunction of the dysesthesias (pins and needles, electrical sensations);
peripheral or central hyperalgesia (amplification of noxious stimuli);
nervous systems. hyperpathia (widespread pain in response to a discrete
Neuropathic
Examples: complex noxious stimulus); allodynia (pain in response to
regional pain syndrome nonpainful stimulation); pain may be perceived distal or
(CRPS), phantom limb proximal to site of injury, usually corresponding to
pain, Guillain-Barre innervation pathways (e.g., sciatica)
syndrome, sciatica

24
Pain pathway:

Injury through A delta and C fibres dorsal horn of spinal cord

spinothalamic tract thalamus

From thalamus through dorsolateral pontine tegmentum to the site of injury.

PAIN MEASUREMENT
TOOLS (vasu likes BF HA)
AGE
NAME FEATURES ADVANTAGES LIMITATIONS
RANGE
Cannot be used in
younger children or in
Horizontal 10-cm those with cognitive
line; subject marks a limitations
spot on the line Good psychometric Requires language
Visual Analog between anchors of 6-8 yr and properties; validated skills and numerical
Scale (VAS) “no pain” (or neutral older for research processing; upper
face) and “most pain purposes anchor of “most pain”
imaginable” (or sad requires an
face) experiential reference
point that is lacking in
many children
Integers from 0 to
Good psychometric
10, inclusive,
6-8 yr and properties; validated
Likert Scale corresponding to a Same as for VAS
older for research
range from no pain
purposes
to most pain
Faces Scales Subjects rate their
Choice of “no pain” face
(e.g., FACES-R, pain by identifying Can be used at
4 yr and affects responses
Wong-Baker, with line drawings younger ages than
older (neutral vs smiling); not
Oucher, Bieri, of faces, or photos VAS and Likert
culturally universal
McGrath scales) of children
Behavioural or Some work Nonspecific; some
combined Scoring of observed for any ages; measures are convenient,
behavioural-phys behaviors (e.g., some work but others require
May be used in both
iologic scales facial expression, for specific videotaping and complex
infants and
(e.g., FLACC, limb movement) age groups, processing; vital sign
nonverbal children
N-PASS, heart rate and blood including changes unrelated to
CHEOPS, OPS, pressure preterm pain can occur and may
FACS, NIPS) infants affect total score
Autonomic Scores changes in
Can be used at all Nonspecific; vital sign
measures (e.g., heart rate, blood
ages; useful for changes unrelated to
heart rate, blood pressure, or
All ages patients receiving pain may occur, and may
pressure, heart measures of heart
mechanical artifactually increase or
rate spectral rate variability (e.g.,
ventilation decrease score
analyses) “vagal tone”)
25
 AGE
NAME FEATURES ADVANTAGES LIMITATIONS
RANGE
Plasma or salivary Nonspecific; changes
sampling of “stress” unrelated to pain can
Hormonal-metab Can be used at all
hormones (e.g., All ages occur; inconvenient;
olic measures ages
cortisol, cannot provide
epinephrine) “real-time” information;

Treatment:

Pharmacological Non pharmacological

Non opiod acetaminophen, aspirin, ibubrofen Relaxation techniques
ketorolac
Opiod codeine fentanyl methadone morphine Distraction
Local anesthetics lidocaine bupivacaine cocaine Hypnotherapy
Unconventional- antidepressants AED, neurotropic drugs Biofeedback
Invasive interventions: celiac plexus block stellate Iyengar yoga, psychotherapy
ganglion block
Intra thecal analgesia Massage therapy acupuncture
Nerve ablation and destruction Music and art therapy aroamtherapy

4.INVASIVE
THERAPY-INTRACTABLE PAIN
3.PARENTERAL POTENT OPIOD.MODERATE
-SEVERE PAIN
2.WEAK OPIODS.MILD-MODERATE
PAIN
1.NON-OPIOD
ANALGESICS.MILD PAIN
WHO LADDER FOR PAIN MANAGEMENT

10. Heat injuries:

In human beings a group of reflex responses that are primarily integrated in the hypothalamus
operate to maintain body temperature within a narrow range inspite of wide fluctuations in
environmental temperature.

Temperature regulating mechanisms:

Mechanisms activated by cold Mechanisms activated by heat

26
Increasing heat production Increase heat loss
Shivering Cutaneous vasodilatation
Hunger Shivering
Increased activity Increased respiration
Increased secretion of epinephrine and
Norepinephrine Decrease heat production
Decreased heat loss Anorexia
Cutaneous vasoconstriction Apathy and inertia
Curling up
Horripulation

Why children are more vulnerable to heat illness than adults:

1. They have greater ratio of surface area to body mass than adults

2. Produce greater heat per kilogram of body weight than adults during activity.

3. The sweat rate is lower in children and the temperature at which sweating occurs is higher.

4. Children can take longer to acclimatize to warmer, more humid environments.

5. Children also have a blunted thirst response compared to adults and might not consume enough
fluid during exercise to prevent dehydration.

Categories:

Three categories for heat illness are generally used: heat cramps, heat exhaustion, and heat stroke.

1. Heat cramps are the most common heat injury and usually occur in mild dehydration and or salt
depletion, usually affecting the calf and hamstring muscles. They tend to occur later in activity, as
muscle fatigue is reached and water loss and sodium loss worsen. They respond to oral rehydration
with electrolyte solution and with gentle stretching. Heat syncope is fainting after prolonged exercise
attributed to poor vasomotor tone and depleted intravascular volume, and it responds to fluids,
cooling, and supine positioning. Heat edema is mild edema of the hands and feet during initial
exposure to heat; it resolves with acclimatization. Heat tetany is carpopedal tingling or spasms
caused by heat-related hyperventilation. It responds to moving to a cooler environment and
decreasing respiratory rate (or rebreathing by breathing into a bag).

2. Heat exhaustion is a moderate illness with core temperature 100-103?F (37.7-39.4?C).

Performance is obviously affected, but central nervous system (CNS) dysfunction is mild, if present.
It is manifested as headache, nausea, vomiting, dizziness, orthostasis, weakness, piloerection, and
possibly syncope. Treatment includes moving to a cool environment, cooling the body with fans,
removing excess clothing, and placing ice over the groin and axillae. If a patient is not able to
tolerate oral rehydration, IV fluids are indicated. If rapid improvement is not achieved, transport to
an emergency facility is recommended.

3. Heat stroke is a severe illness manifested by CNS disturbances and potential tissue damage. It is
a medical emergency; the mortality rate is 50%. Sports-related heat stroke is characterized by
profuse sweating and is related to intense exertion, whereas “classic” heatstroke with dry, hot skin is
of slower onset (days) in elderly or chronically ill persons. Rectal temperature is usually >104?F
(40?C). Significant damage to the heart, brain, liver, kidneys, and muscle occurs with possible fatal
consequences if untreated. Treatment is immediate whole-body cooling via cold water immersion.
27
Airway, breathing, circulation, core temperature, and CNS status should be monitored constantly.
Rapid cooling should be ceased when core temperature is ~101-102?F (38.3-38.9?C). IV fluid at a
rate of 800 mL/m2 in the first hour with normal saline or lactated Ringer solution improves
intravascular volume and the body's ability to dissipate heat. Immediate transport to an emergency
facility is necessary.

Prevention:

1. Athletes are advised to be well hydrated before exercise and should drink every 20 min during
exercise.

2. Free access to cold water should be advocated to coaches.

3. Practices and competition should be scheduled in the early morning or late afternoon to avoid the
hottest part of the day.

4. Proper clothing such as shorts and t-shirts without helmets can improve heat dissipation.

5. Prepractice and postpractice weight can be helpful in determining the amount of fluid necessary to
replace (8 oz for each pound of weight loss).

6. Salt pills should not be used because of their risk of causing hypernatremia and delayed gastric
emptying.

11. RAPID SEQUENCE INTUBATION

STEP PROCEDURE COMMENT/EXPLANATION

Obtain a brief history
Rule out drug allergies; examine the airway anatomy (e.g.,
1 and perform an
micrognathia, cleft palate)
assessment
Assemble equipment,
2 See lists below
medications, etc.
Preoxygenate the
3 With bag/mask, nasal cannula, hood or blow-by
patient
Lidocaine minimizes the ICP rise with intubation and can be applied
Premedicate the patient topically to the airway mucosa for local anesthesia
4
with lidocaine, atropine Atropine helps blunt the bradycardia associated with upper airway
manipulation and reduces airway secretions
Sedatives:
Thiopental (2-5 mg/kg): Very rapid onset; can cause hypotension.
Diazepam (0.1 mg/kg): Onset 2-5 min; elimination in 30-60 min or
more.
Induce sedation and Ketamine (2 mg/kg): Onset 1-2 min; elimination in 30-40 min. May
5 cause hallucinations if used alone; causes higher ICP, mucous
analgesia
secretions, increased vital signs, and bronchodilation.
Analgesics:
Fentanyl (3-10 mcg/kg, may repeat 3-4mins): Rapid administration
risks “tight chest” response, with no effective ventilation. Effects
wear off in 20-30 min.

28
STEP PROCEDURE COMMENT/EXPLANATION
Morphine (0.05-0.1 mg/kg dose): May last 30-60 min; may lead to
hypotension in hypovolemic patients.
Pretreat with Small dose of a nondepolarizing paralytic agent (see below), with
6 nondepolarizing intent of diminishing the depolarizing effect of succinylcholine,
paralytic agent which is administered next
Succinylcholine dose is 1-2 mg/kg; causes initial contraction of
muscles, then relaxation. This depolarization can, however, raise ICP
and blood pressure. Onset of paralysis in 30-40 sec; duration is 5-10
Administer muscle min.
7
relaxants Increased use of pretreatment with a nondepolarizing muscle
relaxant, especially rocuronium (1 mg/kg), which has a very rapid
onset and short duration. Other nondepolarizing agents include
vecuronium and pancuronium, both dosed at 0.1 mg/kg.
Perform a Sellick Pressure on the cricoid cartilage, to occlude the esophagus and
8
maneuver prevent regurgitation or aspiration
ET: Select the proper size for the age and weight of the child
Perform endotracheal Laryngoscope blades: A variety of Miller and the Macintosh blades
9
intubation Patient supine; the neck is extended moderately to the “sniffing”
position
Secure the tube and
ET secured with tape to the cheeks and upper lip or to an adhesive
10 verify the position with
patch applied to the skin near the mouth.
a roentgenogram
Begin mechanical Verify tube placement before ventilating with positive pressure; if an
11
ventilation ET tube is in one bronchus, barotraumas may occur

12. Outcome measures in paediatrics

Scores used in icu-
APACHE (Acute Physiology And Chronic Health Evaluation) system for adults and the
PRISM (Pediatric Risk of Mortality) score for pediatric patients.
Scores used in pediatric emergency medicine-
The second-generation Pediatric Risk of Admission (PRISA II) score and
The Revised Pediatric Emergency Assessment Tool (RePEAT).
ELEMENTS OF THE RePEAT SCORE
• Age
• Chief complaint
• Triage category
• Current use of prescription medications
• Arrival via EMS (ground/air)
• Heart rate
• Respiratory rate
• Temperature

29
 ADOLESCENCE MEDICINE

INDEX
1. SMR
2. Adolescent health problems

SMR
Adolescence is defined as a period of development.
Puberty is the biologic process in which a child becomes an adult.
Once the onset of puberty has begun, the resulting sequence of somatic and physiologic changes
gives rise to the sexual maturity rating (SMR) or Tanner stages
CLASSIFICATION OF SEXUAL MATURITY STATES IN GIRLS
SMR
PUBIC HAIR BREASTS
STAGE
1 Preadolescent Preadolescent
Sparse, lightly pigmented, straight, medial Breast and papilla elevated as small
2
border of labia mound; diameter of areola increased
Breast and areola enlarged, no contour
3 Darker, beginning to curl, increased amount
separation
Coarse, curly, abundant, but less than in
4 Areola and papilla form secondary mound
adult
Adult feminine triangle, spread to medial Mature, nipple projects, areola part of
5
surface of thighs general breast contour

CLASSIFICATION OF SEX MATURITY STATES IN BOYS

SMR
PUBIC HAIR PENIS TESTES
STAGE
1 None Preadolescent Preadolescent
Minimal Enlarged scrotum,
2 Scanty, long, slightly pigmented
change/enlargement pink, texture altered
Darker, starting to curl, small
3 Lengthens Larger
amount
Resembles adult type, but less Larger; glans and breadth
4 Larger, scrotum dark
quantity; coarse, curly increase in size
Adult distribution, spread to medial
5 Adult size Adult size
surface of thighs

HORMONAL CHANGES:
Adrenal production of androgen may occur as early as 6 yr of age, with development of underarm
odor and faint genital hair (adrenarche).
Levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) rise progressively
throughout middle childhood without dramatic effect.
Rapid pubertal changes begin with increased sensitivity of the pituitary to gonadotropin-releasing

30
hormone (GnRH);
Pulsatile release of GnRH, LH, and FSH during sleep; and corresponding increases in gonadal
androgens and estrogens.
The triggers for these changes are incompletely understood, but may involve ongoing neuronal
development throughout middle childhood and adolescence.

2. Adolescent health problems:

History should include HEADS/SF/FIRSTV
Home. Space, privacy, frequent geographic moves, neighbourhood.
Education/School. Frequent school changes, repetition of a grade/in each subject, teachers’ reports,
vocational goals, after-school educational clubs (language, speech, math, etc.), learning disabilities.
Abuse. Physical, sexual, emotional, verbal abuse; parental discipline.
Drugs. Tobacco, alcohol, marijuana, inhalants, “club drugs,” “rave” parties, others. Drug of choice,
age at initiation, frequency, mode of intake, rituals, alone or with peers, quit methods, and number of
attempts.
Safety. Seat belts, helmets, sports safety measures, hazardous activities, driving while intoxicated.
Sexuality/Sexual Identity. Reproductive health (use of contraceptives, presence of sexually
transmitted infections, feelings, pregnancy)
Family and Friends. Family: Family constellation, genogram,
single/married/separated/divorced/blended family, family occupations and shifts; history of addiction
in 1st- and 2nd-degree relatives, parental attitude toward alcohol and drugs, parental rules;
chronically ill physically or mentally challenged parent.
Friends: peer cliques and configuration (cheerleaders), gang or cult affiliation.
Image. Height and weight perceptions, body musculature and physique, appearance (including dress,
jewellery, tattoos, body piercing as fashion trends or other statement).
Recreation. Sleep, exercise, organized or unstructured sports, recreational activities (television,
video games, computer games, Internet and chat rooms, church or community youth group activities
[e.g., Boy/Girl Scouts; Big Brother/Sister groups, campus groups]). How many hours per day, days
per week involved?
Spirituality and Connectedness. Use HOPE or FICA acronym; adherence, rituals, occult practices,
community service or involvement.
Threats and Violence. Self-harm or harm to others, running away, cruelty to animals, guns, fights,
arrests, stealing, fire setting, and fights in school.

Common problems in girls

a. Dysmenorrhoea and dysfunctional uterine bleeding
b. Premenstrual syndrome
c. Acne
d. Breast disorders- asymmetry, hypoplasia, breast enlargement, and galactorrhea.
e. Hirsutism and voiding dysfunction
f. STDI, PID and pregnancy (vulvovaginitis- history, etiology- candida, trichomonas vaginalis,
staphylococci, hemophilus, shigella, pin worm. proper perineal hygiene, broad spectrum
antifungals and metronidazole, adhesive tapes for pin worm).

Common problems in boys

a. penile problems- anomalies, infections, genital herpes
b. scrotal- hydrocele, cryptorchidism, varicocele, torsion testes

31
c. voiding dysfunction
d. acne
e. substance abuse
Common to both genders:
a. depression
b. suicidal attempts and suicide
c. risk taking behaviour
d. violent behaviour
e. juvenile delinquency
f. obesity and eating disorder
To reach out to the maximum number of adolescents, FAMILY LIFE EDUCATION for adolescents
should be imparted through high schools. Following are the components
a. adolescent nutrition b. Personal hygiene c. Understanding ones emotions
d. awareness on one’s own sexuality, HIV/ AIDS and substance abuse e. Teenage care clinic
g. Teen clubs- awareness, personality guidance, medical check up and carrier guidance.

32
 ALLERGY

1. Anaphylaxis
2. Allergic rhinitis
3. Uricaria
4. Serious drug eruptions
5. Food allergy flow chart
6. Immunotherapy
7. Skin prick tests
8. Cmpi
9. Atopic dermatitis

1. Anaphylaxis: Anaphylaxis is defined as a serious allergic reaction that is rapid in onset and may
cause death.
Etiology: HAVELI DMF
COMMON CAUSES OF ANAPHYLAXIS IN CHILDREN
Food: peanuts, nuts, milk, eggs, fish, shellfish, fruits, grains
Drugs: Penicillin, cephalosporins, sulfonamides, nonsteroidal
anti-inflammatory agents
Hymenoptera venom: honeybee, yellow jacket, wasp, hornet, fire ant
Latex
Allergen immunotherapy
Exercise
Vaccinations: tetanus, measles, mumps, influenza
Miscellaneous: radiocontrast media, gamma globulin, blood products,
Idiopathic
Clinical features:
It occurs when there is a sudden release of potent biologically active mediators from mast cells and
basophils, leading to
 Cutaneous - urticaria, angioedema, flushing, pruritis
 Respiratory - bronchospasm, wheeze, dyspnea, laryngeal edema, deep cough
 Cardiovascular - hypotension, dysrhythmias, myocardial ischemia
 Gastrointestinal - nausea, colicky abdominal pain, vomiting, diarrhea.
 Cns: syncope, incontinence, death
Lab findings:

Plasma histamine is elevated for a brief period but is unstable and difficult to measure in a clinical
setting.

Plasma β-tryptase is more stable and remains elevated for several hours but often is not elevated,
especially in food-induced anaphylactic reactions.

DIAGNOSIS OF ANAPHYLAXIS
Anaphylaxis is highly likely when any one of the following three criteria is fulfilled:

33
 1 Acute onset of an illness (minutes to several hours) with involvement of the skin and/or mucosal tissue
(e.g., generalized hives, pruritus or flushing, swollen lips/tongue/uvula)
AND AT LEAST ONE OF THE FOLLOWING:
a Respiratory compromise (e.g., dyspnea, wheeze/bronchospasm, stridor, reduced peak PEF,
hypoxemia)
b Reduced BP or associated symptoms of end-organ dysfunction (e.g., hypotonia [collapse],
syncope, incontinence)
2 Two or more of the following that occur rapidly after exposure to a likely allergen for that patient
(minutes to several hours):
a Involvement of the skin/mucosal tissue (e.g., generalized hives, itch/flush, swollen
lips/tongue/uvula)
b Respiratory compromise (e.g., dyspnea, wheeze/bronchospasm, stridor, reduced PEF, hypoxemia)
c Reduced BP or associated symptoms (e.g., hypotonia [collapse], syncope, incontinence)
d Persistent gastrointestinal symptoms (e.g., crampy abdominal pain, vomiting)
3 Reduced BP following exposure to known allergen for that patient (minutes to several hours):
a Infants and children: low systolic BP (age-specific) or >30% drop in systolic BP
b Adults: systolic BP <90 mm Hg or >30% drop from patient's baseline

Treatment: The initial assessment should ensure an adequate airway

with effective respiration, circulation, and perfusion.

Anaphylaxis is a medical emergency requiring aggressive management with

1. intramuscular or intravenous epinephrine, 0.01ml/kg/dose 1: 1000 (max 0.5

ml)
2. high flow oxygen
3. lay patient flat and legs elevated
4. Secure an IV line with a wide bore needle and start intravenous fluids (bolus 20ml/kg rapid
push if hypotensive)
5. Intramuscular or intravenous H1 and H2 antihistamine antagonists.
6. inhaled β-agonists, nebulised salbutamol
7. Corticosteroids (IV mps or oral prednisone).
8. Epinephrine can be repeated after 3-5 minutes if required.
9. Post emergency management continue cetrizine and steroids for 3 days.

Preventive Treatment
Follow-up evaluation to determine/confirm etiology
Immunotherapy for insect sting allergy
Prescription for adrenaline and antihistamine
Provide written plan outlining patient emergency management

Patient Education
34
Instruction on avoidance of causative agent
Information on recognizing early signs of anaphylaxis
Stress early treatment of allergic symptoms to avoid systemic anaphylaxis

2. Allergic rhinitis:

Allergic rhinitis (AR) is an inflammatory disorder of the nasal mucosa characterized by nasal
congestion, rhinorrhea, and itching, often accompanied by sneezing and conjunctival irritation.

Classification:

AR is currently classified as seasonal (SAR) or perennial (PAR), although these terms may soon be
replaced by intermittent allergic rhinitis (IAR) and persistent rhinitis (PER).

Pathogenesis:

Lab findings:
1. Epicutaneous skin tests provide the best method for detection of allergen-specific IgE.
They are inexpensive and sensitive, and the risks and discomfort are minimal. To avoid false-negative
results, montelukast should be withheld for 1 day, most sedating antihistamine preparations for 3-4
days, and nonsedating antihistamines for 5-7 days.
2. Serum immunoassays for IgE to allergens provide a suitable alternative.

35
Clinical features:
Symptoms signs
1. Nasal itching brings on grimacing, twitching, and Signs on physical exam include
picking of the nose that may result in epistaxis. 1. dental malocclusion,
2. Allergic salute, an upward rubbing of the nose with an
2. “allergic gape”
open palm or extended index finger.
3. Typical complaints include intermittent nasal 3. “allergic shiners” (dark circles
congestion, itching, sneezing, clear rhinorrhea, and under the eyes),
conjunctival irritation.
4. The patients may lose their senses of smell and taste. 4. the transverse nasal crease.
5. Some experience headaches, wheezing, and coughing.
6. Nasal congestion is often more severe at night, causing 5. Conjunctival edema.
6. A nasal exam reveal bluish
mouth-breathing and snoring, interfering with sleep,
mucus membranes and
and inciting irritability. swollen turbinates
Treatment:
Non pharmacological Pharmacological
1. Sealing the patient's mattress, pillow, and 4. Second generation antihistamines:
covers in allergen-proof encasings Cetirizine, levocetirizine, loratidine,
reduces the exposure to mite allergen. fexofenadine.

5. Intra nasal steroids:

2. Bed linen and blankets should be washed Beclomethasone, fluticasone and
every week in hot water. mometasone

3. The only effective measure for avoiding 6. Other nasal sprays:

animal allergens in the home is the Ipratropium, cromolyn sodium and
removal of the pet and outdoor molds. oxymetazoline
7. Specific allergen immunotherapy

3. Urticaria: Urticaria is transient, pruritic, erythematous, raised wheals, with flat tops
and edema that may become tense and painful.
Types:
Episodes of hives that last for <6 wk are considered acute.
Those that occur at least twice a week for >6 wk are designated chronic.
ETIOLOGY OF ACUTE URTICARIA
Foods Egg, milk, wheat, peanuts, tree nuts, soy, shellfish, fish, strawberries
Medications Suspect all medications, even over-the-counter or homeopathic
Insect stings honeybee, wasp, fire ants
Bacterial (streptococcal pharyngitis, Mycoplasma, sinusitis);
viral (hepatitis, Epstein-Barr virus, coxsackievirus A and B);
Infections
parasitic (Ascaris, Ancylostoma, Echinococcus);
fungal (dermatophytes, Candida)
Contact allergy Latex, pollen
Transfusion reactions Blood, blood products, or IV immunoglobulin administration
Etiology of chronic Urticaria:
Idiopathic 75- 90% of chronic Urticaria are idiopathic
Physical Cholinergic, cold,
Rheumatologic SLE, JRA
Endocrine Hypothyroidism, hyperthyroidism
36
Neoplastic Mastocytosis. leukemia
Angioedema Hereditary, acquired and ACE inhibitors

DIAGNOSTIC TESTING FOR URTICARIA AND

ANGIOEDEMA
DIAGNOSIS DIAGNOSTIC TESTING
Elimination of offending agent, skin testing, and challenge
Food and drug reactions
with suspected foods
Autoimmune urticaria Autologous serum skin test; anti-thyroid antibodies
Thyroiditis Thyroid-stimulating hormone; anti-thyroid antibodies
Infections Appropriate cultures or serology, stool for parasites
Collagen vascular diseases and cutaneous Skin biopsy, immunofluorescence of tissues, antinuclear
vasculitis antibodies, cryoglobulins
Dermatographism Stroking with narrow object (e.g., tongue blade, fingernail)
Pressure urticaria Application of pressure for defined time and intensity
Vibratory urticaria Vibration for 4 min
Aquagenic urticaria Challenge with tap water at various temperatures
Urticaria pigmentosa Skin biopsy, test for dermographism
Hereditary angioedema C4, C2, CH50, C1-INH testing by protein and function
Skin biopsy, immunofluorescence (negative result), autologous
Chronic idiopathic urticaria
skin test
Treatment:
Type H1 Type H2 Leukotriene receptor Immunomodulatory
antihistaminic antihistaminic antagonist drugs
Cetrizine Cyclosporine
Loratidine Cimitidine Montelukast Tacrolimus
Desloratidine Ranitidine zafirlukast IVIG
Fexofenadine famotidine immunotherapy

4. SERIOUS DRUG ERUPTIONS

TYPICAL
DRUGS MOST
MUCOSAL TYPICAL PRODROMAL/SIGNS TIME TO
DIAGNOSIS OFTEN
LESIONS SKIN LESIONS AND SYMPTOMS ONSET
IMPLICATED
(WK)
Severe
Phenytoin,
exanthematous fever,
phenobarbital,
rash (could lymphadenopathy,
Drug
become hepatitis,
hypersensitivity carbamazepine,
Infrequent edematous, nephritis, 1-6
syndrome sulfonamides,
pustular, carditis,
(DHS)
purpuric), eosinophilia,
allopurinol,
exfoliative atypical lymphocytes
terbinafine
dermatitis
Stevens-Johnso Erosions at Crops of lesions High fever, sore throat, Sulfonamides,
1-3
n syndrome ≥2 sites on skin, rhinorrhea, cough phenytoin,
37
 TYPICAL
DRUGS MOST
MUCOSAL TYPICAL PRODROMAL/SIGNS TIME TO
DIAGNOSIS OFTEN
LESIONS SKIN LESIONS AND SYMPTOMS ONSET
IMPLICATED
(WK)
(SJS) conjunctivae, carbamazepine,
mouth, and barbiturates,
genitalia; allopurinol,
detachment of aminopenicillins,
≤10% of body nonsteroidal
surface area anti-inflammatory
drugs
Lesions similar
Sulfonamides,
to those with
Fever, headache, sore phenytoin,
SJS; confluent
throat; nearly all cases carbamazepine,
epidermis
Toxic epidermal involve fever, “acute skin barbiturates,
Erosions at separates readily
necrolysis failure,” leukopenia, allopurinol, 1-3
≥2 sites with lateral
(TEN) lesions of the respiratory aminopenicillins,
pressure;
and/or gastrointestinal nonsteroidal
detachment of
tracts anti-inflammatory
≥30% of body
drugs
surface area

5. Food allergy: Adverse reactions to foods consist of any untoward reaction

following the ingestion of a food or food additive and are classically divided into

Food intolerances, which are adverse physiologic responses.

Food hypersensitivities, which include adverse immunologic responses and allergies.
Food intolerance:
Host factors- enzyme deficiencies, GI disorders, psychologic and migrane
Food factors- infectious organisms, toxins, drugs
Symptoms elicited during acute IgE-mediated reactions can affect the
Skin- urticaria, angioedema, flushing, atopic dermatitis
Gastrointestinal tract- oral pruritus, angioedema, nausea, abdominal pain, vomiting, diarrhea
Respiratory tract- nasal congestion, rhinorrhea, nasal pruritus, sneezing, laryngeal edema, dyspnea,
wheezing.
Cardiovascular system- dysrhythmias, hypotension, loss of
consciousness.

38
 Food allergy

IgEmediated Non IgE mediated Mixed

1.oral allergy syndrome 1.allergic proctocolitis 1.Allergic eosinophilic esophagitis

2.food induced enterocolitis 2.Allergic eosinophilic gastritis
2.GI anaphylaxis
3.food induced enteropathy 3.allergic eosinophilic
4.celiac gastroenterocolitis

Investigations:
1. Unfortunately, there are no laboratory studies to help identify foods responsible for cell-mediated
reactions. Consequently, elimination diets followed by food challenges are the only way to establish
the diagnosis.
2. Skin prick tests
3. RAST
4. Specific IgE levels
Treatment:
1. Appropriate identification and elimination of foods responsible for food hypersensitivity
reactions are the only validated treatments for food allergies.
2. Children with asthma and IgE-mediated food allergy, peanut or nut allergy, or a history of a
previous severe reaction should be given self-injectable epinephrine (EpiPen) and a written
emergency plan in case of accidental ingestion.
3. Sublingual immunotherapy.

4. In addition, other forms of therapy, such as anti-IgE immunoglobulin therapy, engineered

recombinant food protein vaccines, and herbal formulations, are being evaluated.

5. In addition, tolerance may be generated by heating (cooking) the food (milk).

6. Exclusive breast feeding till 6 months or use of hydrolyzed milk-based formulas for the first 4-6
months of life, introduction of milk after 12 months, egg after 18 months and nuts after 24 months.

6. Allergin specific immunotherapy:

Allergen immunotherapy involves administering gradually increasing doses of allergens to a person
with allergic disease for the purpose of reducing or eliminating the patient's adverse clinical response
to subsequent natural exposure to those allergens.
indications Contra indications
1. insufficient response to pharmacotherapy 1. age less than 5 years
2. significant side effects to medical therapy 2. on β blocker therapy
3. poor compliance to medical regimen 3. severe asthma
4. patients who have perennial disease 4. immunodeficiency/ autoimmune diseases

39
5. insufficient response to environmental control 5. ABPA
6. asthma triggered by allergen exposure 6. pregnancy
7. insect venom sensitivity 7. severe psychiatric patients

Routes of administration:
1. Sub Cutaneous 2. Oral (OIT) 3. Intranasal 4. Sublingual
(SLIT) 5. Intrabronchial

Adverse reactions:
1. Allergen immunotherapy should be offered in only medical settings where a physician with access
to emergency equipment and medications required for the treatment of anaphylaxis is available.
2. Wheals, induration and urticaria.
3. Severe anaphylaxis. Alum precipitated extracts have less severe chances of anaphylaxis.
RUSH immunotherapy: Rush
immunotherapy is the administration of multiple injections either in a single day or over several days
in an attempt to reach maintenance dose more rapidly. The risk of adverse reactions, including
systemic reactions, is higher than with traditional allergen immunotherapy schedules. Patients to
undergo rush immunotherapy are often pretreated with antihistamines and corticosteroids.
Pre-administration of omalizumab has been shown to reduce the incidence of systemic reactions
associated with the use of this form of immunotherapy.

7. Skin prick tests:

Invivo tests Invitro tests
Widely used, Costly.
simple to perform, Not influenced by skin disease or medications.
less cost, Results correlate well with those obtained by skin
rapidity of performance testing and provocation challenges.
Skin tests
Patch test Eosinophilia
Prick/ puncture test Nasal and bronchial secretions for eosinophils
Intradermal test Serum Ig E levels
Provocation tests RAST(radioallergosorbent test)
Oral food challenge ELISA
Methacholine challenge test FAST (fluorescent immunoassay)
Conjunctival challenge test CLIA (chemiluminescent immunoassay)
Sub lingual challenge test Immunocap system

Medications that interfere with the tests are

1. Antihistaminies 2. TCA 3. Steroids (topical and oral)
4. Benzodiazepines.

8. CMPI:
CMPI is the most common food allergy in young infants often mistaken as lactose intolerance.
Incidence: 2-6% in non breast fed infants and 5% breast fed infants

IMMUNE-MEDIATED REACTIONS TO COW’S MILK

Cow’s milk protein:

 Cow’s milk constitutes =casein + whey proteins.
40
  The coagulum (casein proteins) accounts for about 80% of the total protein content in cow’s
milk and the lactoserum (whey) for the rest.

IgE-mediated CMP-induced reactions:

 When the introduction of breast feeding is delayed or not possible post partum, it is common
practice to offer a CMP-based formula to newborn infants. This early feed may represent the
index “sensitising-event”,  B cell class switching and specific-IgE production with
subsequent exposure to even minute amounts of bovine milk protein in human milk acting as
a “booster sensitising dose” or even elicit allergic reactions in a significant proportion of
breastfed CMPA neonates.

Clinical presentations:
Immediate: Ig E mediated- vomiting, pallor, shock, urticaria and swollen lips.
Late onset: T cell mediated- few hours or days, diarrhea, FTT, anemia and skin manifestations
Diagnosis:
1. High index of suspicion 2. Family history of atopy or allergy 3. Positive Ig E against
cow’s milk protein
4. Modified goldmans criteria includes clinical suspicion of CMA and abnormal histology reverting
back to normal once cow’s milk is withdrawn from diet.
5. UGIE reveals lymphoid hyperplasia with apthoid ulcerations
Management: (flow charts)
1. Removal of cow’s milk and milk products from diet.
2. Permit soy or hydrolysed formula.
3. Home available vegetable milk like amylase rich feeds, cereals with rice and dhal.
4. Parenteral counselling and education.
9. Atopic dermatitis:
Atopic dermatitis (AD), or eczema, is the most common chronic relapsing skin disease seen in
infancy and childhood. Frequently occurs in families with other atopic diseases, such as asthma,
allergic rhinitis, and food allergy.
Etiology: AD is a complex genetic disorder that results in a defective skin
barrier, reduced skin innate immune responses, and exaggerated T-cell responses to
environmental allergens and microbes that lead to chronic skin inflammation.

Pathogenesis:

Two forms of AD have been identified. Atopic eczema is associated with IgE-mediated sensitization
(at onset or during the course of eczema) and occurs in 70-80% of patients with AD. Nonatopic
eczema is not associated with IgE-mediated sensitization and is seen in 20-30% of patients with AD.
Both forms of AD are associated with eosinophilia.

Clinical features:

AD is diagnosed on the basis of 3 major features: pruritus, an eczematous dermatitis that fits into a
typical presentation, and a chronic or chronically relapsing course. Associated features,
such as a family history of asthma, hay fever, elevated IgE, and immediate skin test reactivity, are
variably present.

Triggering factors: Foods (cow milk, egg, peanut, soy, wheat, fish, shellfish), inhalant allergens,
bacterial infection, reduced humidity, excessive sweating, and irritants (wool, acrylic, soaps, toiletries,
fragrances, detergents) can exacerbate (trigger) pruritus and scratching.

Laboratory Findings:
41
There are no specific laboratory tests to diagnose AD. Many patients have peripheral blood
eosinophilia and increased serum IgE levels. Serum IgE measurement or prick skin testing can
identify the allergens to which patients are sensitized

Treatment: The treatment of AD requires a systematic and multifaceted approach.

1. Bathing and moisturization - Lukewarm soaking baths for 15-20 min followed by the application
of an occlusive emollient to retain moisture provide symptomatic relief.

2. Topical Corticosteroids-- Topical corticosteroids are the cornerstone of anti-inflammatory

treatment.

3. Topical Calcineurin inhibitors—Pimecrolimus in mild to moderate AD and Tacrolimus in mod to

severe AD.

4. Tar preparations 5. Antihistamines 6. Systemic steroids 7. avoid triggering factors 8. treat

superinfection

9. Phototherapy Natural sunlight is often beneficial to patients with AD as

long as sunburn and excessive sweating are avoided. Many phototherapy modalities are effective for
AD, including ultraviolet A-1, ultraviolet B (UVB), narrow-band UVB, and psoralen plus ultraviolet
A (PUVA). Phototherapy is generally reserved for patients in whom standard treatments fail.

10. Other- omalizumab, interferon γ, allergen immunotherapy, Probiotics, Chinese herbal medicines
and antimetabolites.

Prevention:
1. Breast-feeding or a feeding with a hypoallergenic hydrolyzed formula may be beneficial.

2. Avoid/ eliminate triggering factors 3. Maintain adequate hydration of skin.

42
 BEHAVIOUR
1. Pica
2. Rumination
3. Habit disorders
4. Temper tantrums
5. Anxiety disorders
6. Suicide
7. Pervasive developmental disorder
8. Autism
9. Biopsychosocial Models of Development

Behavioural problems in childhood:

Vegetative disorders Habit and tic disorders Disruptive and behavioural disorders
1. Rumination Thumb sucking Oppositionalism
2. Pica Bruxism Temper tantrum
3. Enuresis Nail biting Breath holding spells
4. Encopresis Tics Lying
3 & 4 – elimination Trichotillomania Head banging
disorders Head banging
Skin picking

1.Pica:
Pica involves the persistent eating of non nutritive substances (e.g.,
plaster, charcoal, clay, wool, ashes, paint, and earth). The eating behavior is inappropriate to the
developmental level (e.g., the normal mouthing and tasting of objects in infants and toddlers) and not
part of a culturally sanctioned practice.
Epidemiology:
Pica appears to be more common in children with intellectual disability,
pervasive developmental disorders, obsessive-compulsive disorders, and other neuropsychiatric
disorders. (DON) Children with pica are at increased risk for lead poisoning, iron-deficiency anemia,
obstruction, dental injury, and parasitic infections. (Pneumonic DIPLOI)
Etiology:
1. Nutritional deficiencies (e.g., iron, zinc, and calcium) 2. Low socioeconomic factors
3. Child abuse and neglect 4. Family disorganization (e.g., poor
supervision) 5. Psychopathology
6. Learned behavior
7. Underlying (but undetermined) biochemical disorder 8. Cultural and familial factors.

Treatment:
1. A combined medical and psychosocial approach is generally indicated for pica.
2. The sequelae related to the ingested item can require specific treatment (e.g., lead toxicity,
iron-deficiency anemia, parasitic infestation).
3. Ingestion of hair can require medical or surgical intervention for a gastric bezoar.
4. Nutritional education, cultural factors, psychologic assessment, and behavior interventions are
important in developing an intervention strategy for this disorder.
2. RUMINTAION:
Rumination disorder is defined as the repeated regurgitation and rechewing of food for a period of
at least 1 mo following a period of normal functioning. The rumination is not due to an associated
43
gastrointestinal illness or other general medical condition (e.g., esophageal reflux). Malnourishment
with resultant weight loss or growth delay is a hallmark of this disorder.
Epidemiology :
Rumination is a rare disorder that is potentially fatal, and some reports indicate that 5-10% of
affected children die. In otherwise healthy children, this disorder typically appears in the 1st yr of
life, generally between the ages of 3 and 6 months. The disorder is more common in infants with
severe intellectual disability than in those with mild or moderate intellectual disability.
Etiology and Differential Diagnosis:
Proposed causes of rumination disorder include a disturbed relationship with primary caregivers;
lack of an appropriately stimulating environment. The differential diagnosis includes congenital
gastrointestinal system anomalies, pyloric stenosis, Sandifer's syndrome, increased intracranial
pressure, diencephalic tumours, adrenal insufficiency, and inborn errors of metabolism.
Treatment:
1. Treatment begins with a behavioural analysis to determine if the disorder serves as
self-stimulation or is socially motivated.
2. Treatment is generally directed at reinforcing correct eating behavior and minimizing
attention to rumination.
3. Aversive conditioning techniques (e.g., withdrawal of positive attention) are useful when a
child's health is jeopardized.
4. Successful treatment requires the child's primary caregivers to be involved in the
intervention.
5. The caretakers need counselling around responding adaptively to the child's behavior as well
as altering any maladaptive responses.
6. There is no current evidence supporting a psychopharmacologic response to these disorders.

3. Habit Disorders:
The Diagnostic and Statistical Manual of
Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) defines stereotypic movement
disorders (habit disorders) as repetitive, seemingly driven, and non functional motor behavior
that markedly interferes with normal activities or results in self-inflicted bodily injury that
requires medical treatment. The behavior persists for 4 wk or longer and is not better accounted
for by a compulsion, a tic, a stereotypy that is part of a pervasive developmental disorder, or hair
pulling (as in trichotillomania).
Clinical Manifestations: A child's
presentation depends on the nature of the habit and level of the child's awareness of the behavior.
1. Teeth grinding, or bruxism, is common, can begin in the first 5 yr of life, and may be associated
with daytime anxiety. Untreated bruxism can cause problems with dental occlusion. Helping the child
find ways to reduce anxiety might relieve the problem; bedtime can be made more relaxing by
reading or talking with the child and allowing the child to discuss fears. Praise and other emotional
support are useful. Persistent bruxism requires referral to a dentist and can manifest as muscular or
temporomandibular joint pain.
2. Thumb sucking is normal in infancy and toddlerhood. Like other rhythmic patterns of behavior,
thumb sucking is self-soothing. Basic behavioural management, including encouraging parents to
ignore thumb sucking and instead focus on providing the child with praise for substitute behaviors, is
often effective treatment. Simple reinforces, such as giving the child a sticker for each block of time
that he or she does not suck the thumb, can also be considered. Although some literature suggests that
the use of noxious agents (bitter salves) may be effective in controlling thumb sucking, this approach
should rarely be necessary. Problems of thumb sucking- A) dental problems – anterior open bite,
44
decreased alveolar bone growth, mucosal trauma, malocclusion. B) Digit problems- paronychia,
thumb callus.
3. Trichotillomania is the repetitive pulling of hair resulting in loss and strand breakage of hair. The
usual age of onset of trichotillomania is around 13 yr, although preschoolers have been described
with this disorder. Children with trichotillomania have an increasing sense of tension immediately
before pulling or when resisting the behavior, followed by pleasure or relief when pulling out the hair.
The prevalence of trichotillomania in children is not well known but is believed to be 1-2% in
college students. Although trichotillomania often remits spontaneously, treatment of those whose
disorder has been present for >6 mo is unlikely to remit and requires behavioural treatment.
Selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine have some success as adjuncts.
Etiology:
Brain regions implicated are those involved in navigating human
experience through unpredictable, anxiety-provoked emotional states (e.g., amygdala and
hippocampus) as well as regions related to pleasure and reward seeking (e.g., nucleus accumbens).
The latter involves the hypothesis that individuals experience some level of gratification from
performing the habit behavior.
Diagnosis and Differential Diagnosis:
The child should be screened for current and past psychiatric symptoms (particularly anxiety,
obsessions, compulsions, and depression) along with any accompanying functional limitations. The
child should be examined for any significant physical injury from habit behaviors.
The differential diagnosis includes the stereotypic movements associated with mental retardation and
pervasive developmental disorders. Compulsions with obsessive-compulsive disorder (OCD) and
tic disorders as well as involuntary movements associated with neurologic conditions must be
considered.
Treatment:

 Often the initial approach to helping children with habit behaviors is for the parents to ignore
the behavior and not convey worry to their children.
 Generally these behaviors disappear with time and elimination of attention.
 If distress in the child or family, social isolation, and/or physical injury is occurring, then
treatment is indicated.
 Behavior therapy is the mainstay of treatment using a variety of strategies including habit
reversal, relaxation training, self-monitoring, reinforcement, competing responses,
negative practice, (HR SR CN) and, rarely, the use of aversive-tasting substances (for thumb
sucking or nail biting).
 SSRIs are helpful in reducing repetitive behaviors, and they might play a role in particularly
disabling and problematic behaviors, particularly those co-occurring with anxiety and
obsessive-compulsive behaviors.
4. Temper tantrum:
Seen between 18 months- 3 years
At this age child begins to develop autonomy from primary caregivers and tries to develop
negativism. Do things oppositely to what they are requested to do.
They show physical aggression and resistance like biting, kicking, thumping objects, hitting, head
banging. These kinds of activities are called as temper tantrums.
Reaches peak at 2 years of age and subside by 3-6 years when child learns to control negativism.
Treatment:
1. Child should be protected from injury.
2. Deviation of attention or change of environment helps.
3. Parents should be calm, loving firm and consistent.
4. Punishment is negative stimulus- to be avoided.
5. Time out - removal of positive reinforcements.
45
 6. Rule of thumb for length of time out is 1 min/1 year.

5. Anxiety disorders:
Anxiety disorders are characterized by pathologic anxiety in which anxiety becomes disabling,
interfering with social interactions, development, and achievement of goals or quality of life, and can
lead to low self-esteem, social withdrawal, and academic underachievement.
Anxiety disorders are the most common psychiatric disorders of childhood; they occur in 5-18%
of all children and adolescents, prevalence rates comparable to physical disorders such as asthma and
diabetes.
Types: total 7
Separation anxiety disorder (SAD), childhood-onset social phobia or social
anxiety disorder,
Generalized anxiety disorder (GAD), Obsessive-compulsive disorder (OCD),
phobias,
Post-traumatic stress disorder (PTSD), and panic disorder.

6. Suicide:
Youth suicide is a major and preventable public health problem. It ranks as the 3rd and 4th leading
causes of death among young people ages 15-24 yr and 10-14 yr, respectively.
Epidemiology: Each year, there are approximately, an estimated 12 suicides every day. It is
estimated that for every completed youth suicide, as many as 200 suicide attempts are made.
Males complete suicide at a rate 4 times that of females and represent 79.4% of all suicides where as
attempts are more common in girls.
Risk Factors:
In addition to age, race and ethnicity, and a history of a previous suicide attempt, there are multiple
risk factors that predispose youths to suicide.
1. Pre-existing Psychiatric Illness:
The great majority (estimated at 90%) of youths who complete suicide have a pre-existing psychiatric
illness, most commonly major depression. Among girls, chronic anxiety, especially panic
disorder, also is associated with suicide completion.
2. Cognitive Distortions:
Many suicidal youth hold negative views of their own competence, have poor self-esteem, and have
difficulty identifying sources of support or reasons to live. Many youngsters lack the coping
strategies necessary to manage strong emotions and instead tend to catastrophize and engage in
all-or-nothing thinking.
3. Social, Cultural, and Environmental Factors:
Of children and adolescents who attempt suicide, 65% can name a precipitating event for their action.
Most adolescent suicide attempts are precipitated by stressful life events, such as academic or social
problems, being bullied, trouble with the law, family instability, questioning one's sexual
orientation, a newly diagnosed medical condition, or a recent or anticipated loss. Suicide may also
be precipitated by exposure to news of another person's suicide or by reading about or viewing a
suicide portrayed in a romantic light in the media. Physical and sexual abuse can also increase one's
risk of suicide.

Management:

 Youth with these risk factors generally require inpatient level of care to ensure safety,
clarify diagnosis, and comprehensively plan treatment.
 For those youth suitable for treatment in the outpatient setting, an appointment should be
scheduled within a few days with a mental health professional.
 A procedure should be in place to contact the family if the family fails to complete the
46
 referral.
 Therapies that have been found to be helpful with suicidal youth include
cognitive-behavioural therapy, dialectical behavioural therapy and interpersonal
therapy.
 Psychotropic medications are used adjunctively to treat underlying psychiatric disorders.

Prevention:

 At present there is insufficient evidence to either support or refute universal suicide

prevention programs.
 Peer helpers have not been shown to be efficacious.
 Students are taught to recognize the signs of suicide and depression in themselves and others,
and they are taught the specific action steps necessary for responding to these signs.

7. Pervasive Developmental Disorders and Childhood Psychosis:

PERVASIVE DEVELOPMENTAL DISORDERS AND AUTISM SPECTRUM DISORDERS

PERVASIVE
CHILDHOOD DEVELOPMENTAL
ASPERGER'S RETT'S
AUTISM DISINTEGRATIVE DISORDER—NOT
SYNDROME SYNDROME
DISORDER OTHERWISE
SPECIFIED
Delayed and
disordered Similar to autism Clinically significant
Almost always
communication except language regression in skills
affects girls Features of 1 of the other
Atypical social skills relatively (language, social skills,
Regression in autism spectrum
interaction intact bowel and bladder
skills between 6 disorders, but insufficient
Restricted range Usually not control, play motor
and 18 mo of for a specific diagnosis
of interests cognitively skills) before 10 yr of
age
Onset before 3 delayed age
yr of age

Autistic Disorder:

DSM-IV-TR DIAGNOSTIC CRITERIA FOR AUTISTIC DISORDER

A A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from
(2) and (3):
1 Qualitative impairment in social interaction, as manifested by at least two of the following:
a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze,
facial expression, body postures, and gestures to regulate social interaction
b Failure to develop peer relationships appropriate to developmental level
c A lack of spontaneous seeking to share enjoyment, interests, or achievements with other
people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
d Lack of social or emotional reciprocity
2 Qualitative impairments in communication as manifested by at least one of the following:
a Delay in, or total lack of, the development of spoken language (not accompanied by an
attempt to compensate through alternative modes of communication such as gesture or
47
 mime)
b In individuals with adequate speech, marked impairment in the ability to initiate or
sustain a conversation with others
c Stereotyped and repetitive use of language or idiosyncratic language
d Lack of varied, spontaneous make-believe play or social imitative play appropriate to
developmental level
3 Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as
manifested by at least one of the following:
a Encompassing preoccupation with one or more stereotyped and restricted patterns of
interest that is abnormal either in intensity or focus
b Apparently inflexible adherence to specific, nonfunctional routines or rituals
c Stereotyped and repetitive motor manners (e.g., hand or finger flapping or twisting, or
complex whole-body movements)
d Persistent preoccupation with parts of objects
B Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3
years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or
imaginative play.
C The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder.

MEDICAL AND GENETIC EVALUATION OF CHILDREN WITH PERVASIVE

DEVELOPMENTAL DISORDERS

REQUIRED EVALUATIONS
Careful physical examination to identify dysmorphic physical features
Macrocephaly
Wood's lamp examination for tuberous sclerosis
Formal audiologic evaluation
Lead test; repeat periodically in children with pica
High-resolution karyotype
CONSIDER IF RESULTS OF ABOVE EVALUATIONS ARE NORMAL, AND IN CHILDREN WITH
COMORBID MENTAL RETARDATION
FISH test for region 15q11q13 to rule out duplications in Prader-Willi /Angelman's syndrome
region
FISH test for telomeric abnormalities
Test for mutations in MECP2 gene (Rett's syndrome)
DNA testing for fragile X syndrome
METABOLIC TESTING TO CONSIDER BASED ON OTHER CLINICAL FEATURES
Fasting blood glucose Plasma amino acids
Ammonia and lactate

Fatty acid profile Carnitine Acylcarnitine

Homocysteine

48
 Urine amino acids Urine organic acids Urine testing for purines and
pyrimidines

OTHER TESTING TO CONSIDER BASED ON CLINICAL FEATURES

Liver enzymes Biotinidase Thyroxine,
thyroid-stimulating hormone

Complete blood cell count Ceruloplasmin and

serum copper

ELECTROENCEPHALOGRAPHY IF THE FOLLOWING CLINICAL FEATURES ARE NOTED

Clinically observable seizures
History of significant regression in social or communication functioning

Early Identification:

Early identification and intervention of PDD are associated with better outcomes. Several instruments
have been developed for screening of PDD in primary care settings including the Checklist for
Autism in Toddlers (CHAT), the Modified Checklist for Autism in Toddlers (M-CHAT), and the
Pervasive Developmental Disorders Screening Test (PDDST).

Treatment:

The primary goals of treatment are to maximize the child's ultimate functional independence and
quality of life by minimizing the core features of the disorder, facilitating development and learning,
promoting socialization, reducing maladaptive behaviors, and educating and supporting families.

Educational interventions, including behavioral and habilitative (speech, occupational, and physical)
therapies, are the cornerstones of treatment for the PDDs.

Pharmacotherapy can increase the ability of persons with AD to benefit from educational and other
interventions and to remain in less-restrictive environments.

Target symptom clusters Selected medication

OCD, anxiety, depression SSRI
ADHD Stimulants, Atomoxetine, mood stabilizers
Sleep dysfunction Melatonin

49
Biopsychosocial Models of Development
CLASSIC STAGE THEORIES
SCHOOL ADOLESCE
INFANCY TODDLERHOO PRESCHOO
AGE (6-12 NCE (12-20
(0-1 YR) D (2-3 YR) L (3-6 YR)
YR) YR)
Freud:
psychosex Oral Anal Phallic/oedipal Latency Genital
ual
Erikson:
Basic trust Autonomy vs Initiative vs Industry vs Identity vs role
psychosoci
vs mistrust shame and doubt guilt inferiority diffusion
al
Piaget: Sensorimot Concrete Formal
Sensorimotor Preoperational
cognitive or operations operations
Preconventional:
avoid Conventional: Conventional: Postconventio
Kohlberg:
— punishment/obtain conformity law and order nal: moral
moral
rewards (stages 1 (stage 3) (stage 4) principles
and 2)

2. Psychoanalytic Theories
At the core of Freudian theory is the idea of body-centered (or, broadly, “sexual”) drives
stages age description
Oral phase 1-2yrs The focus of the drives shifts
with maturation from oral
satisfactions (sucking in the
1st yr of life)
Anal phase 2-4yrs anal sensations
Anal zone is the primary
zone of pleasure.
Gratification is derived from
expelling or withholding
faeces/urine
Phallic phase 5-10yrs oedipal drives
(possessiveness f boys
toward a parent in the
preschool years) electra
drives(similarly girls with her
father)
Genital phase in puberty and beyond

At each stage, the child's drive can potentially conflict with the rules of society. The emotional health
of both the child and the adult depends on adequate resolution of these conflicts.
Moreover, the effectiveness of psychoanalytic therapy has been difficult to demonstrate empirically.
Erikson's
Chief contribution was to recast Freud's stages in terms of the emerging personality.
The child's sense of basic trust develops through the successful negotiation of infantile needs,
corresponding to Freud's oral period. As children progress through these psychosocial stages,
different issues become salient.
Thus, it is predictable that a toddler will be preoccupied with establishing a sense of autonomy,
whereas a late adolescent may be more focused on establishing meaningful relationships and an
occupational identity.
Erikson's work calls attention to the intrapersonal challenges facing children at different ages in a
50
way that facilitates professional intervention.
Cognitive Theories:
Cognitive development is best understood through the work of Piaget. During the sensorimotor stage,
an infant's thinking is tied to immediate sensations and a child's ability to manipulate objects. Piaget
described how children actively construct knowledge for themselves through the linked processes of
 Assimilation (taking in new experiences according to existing schemata) and
 Accommodation (creating new patterns of understanding to adapt to new information). In this
way, children are continually and actively reorganizing cognitive processes.
Challenges have included questions about the timing of various stages and the extent to which
context may affect conclusions about cognitive stage.
Piaget's work is of special importance to pediatricians for 3 reasons:
(1) It helps make sense of many puzzling behaviors of infancy, such as the common exacerbation of
sleep problems at 9 and 18 mo of age.
(2) Piaget's observations often lend themselves to quick replication in the office, with little special
equipment.
(3) Open-ended questioning, based on Piaget's work, can provide insights into children's
understanding of illness and hospitalization.
Based on cognitive development, Kohlberg developed a theory of moral development in 6 stages
from early childhood through adulthood.
Preschoolers’ earliest sense of right and wrong is egocentric, motivated by externally applied
controls.
In later stages, children perceive equality, fairness, and reciprocity in their understanding of
interpersonal interactions through perspective-taking.
Most youth will reach stage 4, conventional morality, by mid to late adolescence. Whereas moral
thinking considers interpersonal interactions, justice, and human welfare, social conventions are the
agreed-on standards of behavior particular to a social or cultural group. Within each stage of
development, children are guided by the basic precepts of moral behavior, but also may take into
account local standards, such as dress code, classroom behavior, and dating expectations.
Behavioral Theory
This theoretical perspective distinguishes itself by its lack of concern with a child's inner experience.
Its sole focus is on observable behaviors and measurable factors that either increase or decrease the
frequency with which these behaviors occur. No stages are implied; children, adults, and indeed
animals all respond in the same way. In its simplest form, the behaviorist orientation asserts that
behaviors that are positively reinforced occur more frequently; behaviors that are negatively
reinforced or ignored occur less frequently. The strengths of this position are its simplicity, wide
applicability, and conduciveness to scientific verification. A behavioral approach lends itself to
interventions for various common problems, such as temper tantrums and aggressive preschool
behavior, in which behaviors are broken down into discrete units. In cognitively limited children and
children with autism spectrum disorders, behavioral interventions using applied behavior analysis
(ABA) approaches have demonstrated their ability to teach new, complex behaviors. ABA has been
particularly useful in the treatment of early diagnosed autism. However, in cases in which
misbehavior is symptomatic of an underlying emotional, perceptual, or family problem, an exclusive
reliance on behavior therapy risks leaving the cause untreated. Behavioral approaches can be taught
to parents to apply at home.
Theories Commonly Employed in Behavioral Interventions
During the past few decades an increasing number of programs (within and outside of the physician's
office) designed to influence behavior have been based on theoretical models of behavior. Some of
these models are based on behavioral or cognitive theory or in cases have attributes of both. The most
commonly employed models are the Health Belief Model, Theory of Reasoned Action, Theory of
Planned Behavior, Social Cognitive Theory, and the Transtheoretical Model, also known as Stages of
Change Theory. Pediatricians should be aware of these models; similarities and differences between
these models are shown in Table 6-3. Motivational interviewing is less a theory of behavior and
more a technique to bring about behavior change. The goal in using the technique is to enhance an
individual's motivation to change behavior by exploring and removing ambivalence. This may be
51
practiced by an individual practitioner and is being taught in some pediatric residency programs.
Motivational interviewing emphasizes the importance of the therapist (pediatrician) understanding
the client's perspective and displaying unconditional support. The therapist is a partner rather than an
authority figure and recognizes that ultimately the patient has control over his or her choices.

52
 CNS
1. HEADACHE

2. PSEUDOTUMORE CEREBRI

3. GLOSCOW COMA SCALE

4. BREATH HOLDING SPELL

5. CEREBRAL ABSCESS

6. HYDROCEPAHLUS

7. PEDIATRIC STROKE SYNDROMES:

8. VIRAL MENINGOENCEPAHALITIS

9. NEURAL TUBE DEFECTS

10. MENINGITIS

11. SEIZURES/ febrile seizure

12. MICROCEPHALY

13. HMSN: PERONEAL MUSCULAR ATROPHY

(CHARCOT-MARIE-TOOTH DISEASE; HMSN TYPE I)

14. PATTERN OF WEAKNESS AND LOCALIZATION IN THE FLOPPY INFANT

15. DISTINGUISHING FEATURES OF DISORDERS OF THE

MOTOR SYSTEM

16. BELLS PALSY

17. MOVEMENT DISORDERS/ chorea/ rheumatic chorea

18. ATAXIA

19. MYASTHENIA GRAVIS

20. Cerebral palsy

21. ADEM

22. Mitochondrial encephalopathies

23. DMD

24. Aseptic meningitis

53
 25. encephalitis

26. Neurophysiology – article ijpp 03 volume 2

27. Intractable epilepsy 08 vol 3 28. Circle of willis 29.

1. Headache:
Headache is a common complaint in children and teenagers.
Types:
Primary: migrane and tension type headache.
Secondary: due to an underlying illness.

Migrane: Migraine is the most frequent type of recurrent headache that is brought to the
attention of parents and primary care providers.
Classification:
1. migrane without aura 2. migrane with aura 3. childhood periodic
syndromes that are
commonly precursors of
migrane
4. retinal migrane 5. complications of migrane 6. probable migrane

Criteria:
All these features can be with or without aura
I At least 5 attacks fulfilling B-D
II Headaches lasting 4-72 hr (untreated or unsuccessfully treated)
III Headaches with at least two characteristics (UPMA)
A U unilateral location
B P pulsating quality
C M moderate of severe pain intensity
D A aggravation by or causing avoidance of routine physical
activity
IV During the headache have at least 1 of the following:
A Nausea and/or vomiting
B Photophobia and phonophobia
V Not attributed to another disorder

In addition to the classifying features, there may additional markers of a migraine disorder. These
include such things as triggers (skipping meals, inadequate or irregular sleep, dehydration and
weather changes are the most common), pattern recognition (associated with menstrual periods in
adolescents or Monday morning headaches due to change in sleep patterns over the weekend), and
prodromes (a feeling of irritability, tiredness, and food cravings prior to the start of the headache).

INDICATIONS FOR NEUROIMAGING IN A CHILD WITH HEADACHES

54
 1. Abnormal or focal neurologic signs or symptoms

2. Seizures or very brief auras (<5 min)

3. Unusual headaches in children
4. Headache in children <6 yr old or any child that cannot adequately describe their
headache
5. Brief cough headache in a child or adolescent
6. Headache worst on first awakening or that awakens the child from sleep
7. Migrainous headache in the child with no family history of migraine or its equivalent

Treatment:
Acute treatment: This mainly includes 2 groups of medicines: nonsteroidal antiinflammatory
drugs (NSAIDs) and triptans. Ibuprofen has been the most well documented at a dose of 7.5-10
mg/kg. The most effective way to administer the NSAIDs and triptans is to use the NSAIDs first,
restricting their use to fewer than 2-3 times per wk, and adding the triptan for moderate to severe
attacks. Fluid hydration should be integrated into the acute treatment plan.
Preventive therapy: The most commonly used preventive therapy for headache and migraine is
amitriptyline usually given for at least 4-6 months at an adequate dose and then weaned over several
weeks time. Antiepileptic medications are more recently commonly used for migraine prophylaxis.
Biobehavioral therapy: Biobehavioral evaluation and therapy is essential for effective
migraine management. This should include adequate fluid intake without caffeine, regular exercise,
not skipping meals and making healthy food choices, and adequate (8-9 hr) sleep on a regular basis.
Biofeedback-assisted relaxation therapy has been demonstrated to be effective for both acute and
preventive therapy.

Secondary headache: By definition, a secondary headache has a specific cause and

should resolve once this cause is treated. If the headache persists, the diagnosis and treatment should
be questioned because either the diagnosis may be incorrect, the headache may be a primary
headache, and/or the treatment chosen may have been incorrect.

Causes of secondary headache

1. Headache attributed to head and/or neck trauma
2. Acute post-traumatic headache
3. Medication-overuse headaches
4. Headache attributed to Rhinosinusitis
5. Headache attributed to psychiatric disorder
6. Headache attributed to nonvascular intracranial disorder

2. PSEUDOTUMOR CEREBRI:
Pseudotumor cerebri, also known as idiopathic intracranial hypertension, is a clinical syndrome
that mimics brain tumors and is characterized by increased intracranial pressure, with a normal
cerebrospinal fluid (CSF) cell count and protein content and normal ventricular size, anatomy, and
position documented by MRI.
Causes: C D HEROIN
HEMATOLOGIC INFECTIONS DRUGS RENAL
Wiskott-Aldrich Acute Tetracyclines
syndrome sinusitis Sulfonamides
Iron deficiency Otitis media Nalidixic acid
55
 anemia Mastoiditis Corticosteroid
therapy and Nephrotic syndrome
Aplastic anemia Tonsillitis
Sickle cell disease Measles withdrawal
Nitrofurantoin Chronic renal insufficiency

Post–renal transplant

NUTRITIONAL OTHER CONNECTIVE ENDOCRINE

TISSUE
Hypovitaminosis A Dural sinus Menarche
DISORDERS
Vitamin A thrombosis
intoxication Obesity Antiphospholipid Polycystic ovarian syndrome
Hyperalimentation Head trauma antibody
in malnourished syndrome Hypo /hyperparathyroidism
Superior
patient vena cava Systemic lupus
erythematosus Congenital adrenal
Vitamin syndrome hyperplasia
D–dependent Behcet disease
rickets

Clinical features and Investigations:

The most frequent symptom is headache, although vomiting also occurs.
Infant with pseudotumor cerebri characteristically reveals a bulging fontanel and a “cracked pot
sound” or MacEwen sign (percussion of the skull produces a resonant sound) due to separation of
the cranial sutures.
Papilledema with an enlarged blind spot is the most consistent sign in a child beyond infancy.
Orbit ultrasonography- for optic nerve edema. Tanget screen testing- for visual field defect.

Visual-evoked potentials. MRA/MRV should be considered in patients suspected of dural sinus

thrombosis.

Treatment : 1. The key objective in management is recognition and treatment of the underlying
cause.

2. Obese patient should be treated with a weight loss regimen.

3. Lumbar tap.

4. Acetazolamide, is an effective regimen. Corticosteroids are not routinely administered.

5. Optic nerve sheath fenestration to prevent visual loss.

3. GLASGOW COMA SCALE

EYE OPENING (TOTAL POSSIBLE POINTS 4)
Spontaneous 4
To voice 3
To pain 2
None 1
56
VERBAL RESPONSE (TOTAL POSSIBLE POINTS 5)
OLDER CHILDREN INFANTS AND YOUNG CHILDREN
Oriented 5 Appropriate words; smiles, fixes, and follows 5
Confused 4 Consolable crying 4
Inappropriate 3 Persistently irritable 3
Incomprehensible 2 Restless, agitated 2
None 1 None 1
MOTOR RESPONSE (TOTAL POSSIBLE POINTS 6)
Obeys 6
Localizes pain 5
Withdraws 4
Flexion 3
Extension 2
None 1

The Munro-Kellie doctrine describes intracranial dynamics in the setting of an expanding mass
lesion (i.e., hemorrhage, tumor) or brain edema. In the normal state, the brain parenchyma, arterial
blood, cerebrospinal fluid (CSF), and venous blood occupy the cranial vault at a low pressure,
generally <10 mm Hg. With an expanding mass lesion or brain edema, initially there is a
compensated state as a result of reduced CSF and venous blood volumes, and intracranial pressure
(ICP) remains low. Further expansion of the lesion, however, leads to an uncompensated state when
compensatory mechanisms are exhausted and intracranial hypertension results.

4. Breath-Holding Spells:

This term has been applied to 2 types of spells.

The 1st is the pallid breath-holding spell, which is the vasovagal reflex usually triggered by
dehydration, heat, standing for a long time without movement, hot showers, the sight of blood, pain,
or sudden stress.

57
The 2nd is the cyanotic or, “blue,” breath-holding spell.

Pathophysiology: Spells usually begin between 6 and 18 mo of age.

Triggering factors like Injury, anger, and frustration, particularly with surprise, dehydration, heat,
stress and pain.

An episode starts with a cry following a trigger

Prolonged expiratory apnea and reflex vagal cardiac bradycardia

Cyanosis resulting from intrapulmonary shunting

Blurring of vision, Syncope, loss of consciousness and even reflex anoxic seizures may follow.

Management: 1. Education and reassurance of the parents is usually all that is needed, as these
episodes are, as a rule, self-limited and outgrown within a few years.

2. Treat coexisting iron deficiency.

3. Anticholinergic drugs (atropine sulfate)

4. Instructing parents in basic cardiopulmonary resuscitation (CPR), or antiepileptic drug therapy

for anoxic seizures that are recurrent and not responding to other measures.

PREVENTION: Education of the parents on how to handle more severe spells by first-aid measures
is important.

All parents should be taught not to provide secondary gain when the episodes occur, because this
can reinforce the episodes.

Also, preparation for unpleasant experiences (such as receiving a shot) rather than surprising the
child with them can help limit the number of spells.

5. Cerebral abscess:

Brain abscesses can occur in children of any age but are most common in children between 4 and 8 yr
and neonates. Most brain abscesses are single, but 30% are multiple.

Causes:

1. CHD rt to lt shunt esp TOF 6. soft tissue infections of the face and scalp
2. meningitis 7. dental infections
3. chronic otitis media and mastoiditis 8. penetrating injury
4.sinusitis 9. immunodeficiency states
5.orbital cellulitis 10. infection of VP shunts

Etiology:

The responsible bacteria include streptococci (Streptococcus pyogenes group A or B, Streptococcus

pneumoniae, Enterococcus faecalis)

anaerobic organisms (Bacteroides spp., Fusobacterium spp., Prevotella spp., Actinomyces spp.)

58
gram-negative aerobic bacilli (Haemophilus influenzae, Enterobacter, Escherichia coli, Proteus)

Citrobacter is most common in neonates.

Fungal abscesses (Aspergillus, Candida) are more common in immunosuppressed patients.

Clinical features:

The early stages of cerebritis and abscess As the inflammatory process proceeds,
formation are associated with nonspecific vomiting, severe headache, seizures,
symptoms, including low-grade fever, papilledema, focal neurologic signs
headache, and lethargy. The significance of (hemiparesis), and coma may develop. If
these symptoms is generally not recognized, the abscess ruptures into the ventricular
and an oral antibiotic is often prescribed with cavity, overwhelming shock and death
resultant transient relief. usually ensue.

Diagnosis:

1. CBC – leukocytosis or normal counts

2. Blood culture- positive in 10 % of cases
3. CSF examination is usually avoided as it may cause herniation
4. Aspiration of the abscess.
5. EEG shows corresponding focal slowing.
6. RADIONUCLIDE brain scan indicates an area of enhancement.
7. MRI is the diagnostic test of choice. MRI also demonstrates an abscess capsule with gadolinium
administration.
8. An abscess cavity shows a ring-enhancing lesion by contrast CT.

TREATMENT: The duration of antibiotic therapy depends on the organism and response to
treatment, but is usually 4-6 wk.

Organism/ site of infection drugs

Unknown/ otitis media/ mastoiditis Vanco + 3 rd gen cephalosporin + metro
rd
Penetrating head injury/ head trauma Vanco + 3 gen cephalosporin
Cyan heart disease Ampicillin- sulbactum
VP shunt inf Vanco + ceftazidime
citrobacter 3 rd gen cephalosporin +
aminoglycoside
immunocompromised Broad spectrum + Amphotericin B

Surgery is indicated when the abscess is >2.5 cm in diameter, gas is present in the abscess, the lesion
is multiloculated, the lesion is located in the posterior fossa, or a fungus is identified.

6. HYDROCEPAHLUS:

59
COMMUNICATING NONCOMMUNICATING
Achondroplasia Aqueductal stenosis
Basilar impression Infectious*
X-linked
Choroid plexus papilloma
Chiari malformation
Meningeal malignancy Dandy-Walker malformation
Meningitis Klippel-Feil syndrome
Posthemorrhagic Mass lesions
Abscess
HYDRANENCEPHALY Hematoma
Holoprosencephaly Tumors and neurocutaneous
disorders
Massive hydrocephalus
Vein of Galen malformation
Porencephaly

*Inf- toxoplasmosis, mumps neurocysticercosis

CSF pathway: formed by choroid plexus of lateral ventricles (small quantity by brain parenchyma
of third ventricle) enters third ventricle thru foramen of manro passes thru aqui
duct of silvius enters the fourth ventricle escapes mainly thru foramen of
lushka and megendie occupies the subarachinoid space

1.Distributed all over the brain. 2.Small part enters central

canal

Normal rate of production: 18-20ml/hr. Normal volume in infants 50ml and in adults 150ml.

Clinical features:

Infant: In an infant, an accelerated rate of enlargement of the head is the most prominent sign. In
addition, the anterior fontanel is wide open and bulging, and the scalp veins are dilated. The
forehead is broad, and the eyes might deviate downward because of impingement of the dilated
suprapineal recess on the tectum, producing the setting-sun eye sign. Long-tract signs including
brisk tendon reflexes, spasticity, clonus (particularly in the lower extremities), and Babinski sign are
common. Serial measurements of the head circumference often indicate an increased velocity of
growth. Percussion of the skull might produce a cracked pot sound or MacEwen's sign, indicating
separation of the sutures.

Children: Irritability, lethargy, poor appetite, and vomiting are common to both age groups, and
headache is a prominent symptom in older patients. A gradual change in personality and
deterioration in academic productivity suggest a slowly progressive form of hydrocephalus.

60
Chiari malformation consists of two major subgroups. Type I typically produces symptoms during
adolescence or adult life and is usually not associated with hydrocephalus. Patients complain of
recurrent headache, neck pain, urinary frequency, and progressive lower extremity spasticity. The
deformity consists of displacement of the cerebellar tonsils into the cervical canal. Although the
pathogenesis is unknown, a prevailing theory suggests that obstruction of the caudal portion of the
4th ventricle during fetal development is responsible. Other theories include tethering of the cord or
additional anomalies (syrinx). (ccc= chiari, cerebellar tonsils, into cervical canal)

The type II Chiari malformation is characterized by progressive hydrocephalus with a

myelomeningocele. This lesion represents an anomaly of the hindbrain, probably owing to a failure
of pontine flexure during embryogenesis, and results in elongation of the 4th ventricle and kinking
of the brainstem, with displacement of the inferior vermis, pons, and medulla into the cervical canal.
Approximately 10% of type II malformations produce symptoms during infancy, consisting of stridor,
weak cry, and apnea, which may be relieved by shunting or by decompression of the posterior fossa.
A more indolent form consists of abnormalities of gait, spasticity, and increasing incoordination
during childhood.

The Dandy-Walker malformation consists of a cystic expansion of the 4th ventricle in the posterior
fossa and midline cerebellar hypoplasia, which results from a developmental failure of the roof of
the 4th ventricle during embryogenesis. Approximately 90% of patients have hydrocephalus, and a
significant number of children have associated anomalies, including agenesis of the posterior
cerebellar vermis and corpus callosum. Infants present with a rapid increase in head size and a
prominent occiput. Transillumination of the skull may be positive. Most children have evidence of
long-tract signs, cerebellar ataxia, and delayed motor and cognitive milestones, probably due to the
associated structural anomalies. The Dandy-Walker malformation is managed by shunting the cystic
cavity (and on occasion the ventricles as well) in the presence of hydrocephalus.

Treatment:

Medical: acetazolamide/ glycerol/ hypertonic saline

Surgical: vp shunt

Complications: Eye- optic atrophy, strabismus

Cognitive impairement gait abnormalities

metabolic acidosis following medical treatment.

Increase icp. Hematoma, shunt infection, failure, peritonitis, meningitis and seizures following
surgery

61
7. Pediatric stroke syndromes:

Stroke has emerged as an important cause of acquired brain injury in newborns and children.

Types

Ischemic: arterial ischemic stroke (AIS) cerebral sinovenous thrombosis (CSVT)

Hemorrhagic: hemorrhagic stroke and cerebrovascular disease.

Causes for arterial ischemic stroke:

Arteriopathic Cardiac Haematological Genetic

Sickle cell anemia
Focal cerebral Complex cyanotic Hereditary
arteriopathy heart disease Iron deficiency anemia dyslipoproteinemia
Inherited prothrombotic
Transient Cardiac procedures Heritable disorders of
(factor V Leiden, prothrombin
cerebral connective tissue
gene mutation)
arteriopathy Arrhythmias
Organic acidemias
Acquired prothrombotic (e.g.,
Moyamoya Endocarditis
protein C/S deficiency,
Mitochondrial
antithrombin III deficiency,
Arterial infection cardiomyopathy encepahalomyoapthies
lipoprotein [a], antiphospholipid
antibodies, oral contraceptives,
migrane
pregnancy)

Causes of hemorrhagic stroke

Vascular disorders Blood disorder Trauma

Arteriovenous malformations Idiopathic thrombocytopenic Middle meningeal

purpura artery injury
Cavernous malformations
(cavernomas) Bridging vein injury
Hemolytic uremic syndrome (subdural hematoma)
Venous angiomas
Hepatic disease/failure Subarachnoid
Hereditary hemorrhagic coagulopathy
telangiectasia hemorrhage
Vitamin K deficiency
Intracranial aneurysm (hemorrhagic disease of the Hemorrhagic
newborn) contusions (coup and
Choroid plexus angiomas
contrecoup)
Drugs/ toxins Disseminated intravascular
coagulation Non accidental trauma
Iatrogenic
(neurosurgical
procedures,
angiography)

62
Clinical Arterial ischemic stroke (AIS) Hemorrhagic stroke (HS)
features:

The acute onset of a focal Clinical presentations vary according to

neurologic deficit in a child is location, cause, and rate of bleeding.
stroke until proven otherwise. Acute hemorrhages may feature
instantaneous or thunderclap
The most common focal headache, loss of consciousness, and
presentation is hemiparesis but acute nuchal rigidity focal neurologic
visual, speech, sensory, or balance deficits and seizures.
deficits also occur.
HS can be rapidly fatal.
Children with these presentations
require urgent neuroimaging and In bleeds associated with vascular
consultation with a child neurologist malformations, pulsatile tinnitus,
as emergency interventions may be cranial bruit and high-output heart
indicated. failure may be present.
Investigati
ons
lumbar puncture may be required to
CT imaging can demonstrate larger exclude subarachnoid hemorrhage.
mature AIS and exclude CT is highly sensitive to acute HS.
hemorrhage. MRI is highly sensitive to even small
MRI identifies early and small amounts of acute hemorrhage.
infarcts and is therefore required to Angiography by CT, MR, or
exclude ischemic stroke. conventional means is often required to
Diffusion weighted MRI (DWI) exclude underlying vascular
can demonstrate AIS within minutes abnormalities.
of onset.
MR angiography can confirm
vascular occlusion

Treatment 1.antithrombotic statergies-

heparin, aspirin The same principles of
neuroprotection as in AIS.
2. neuroprotective statergies
Control of seizures, blood glucose
and temperature. Reversal of anticoagulant therapy
may be required (e.g., vitamin K, fresh
3. disease specific frozen plasma) but the role of factor
Transfusion in sickle cell and iron VII are unstudied.
def anemia
Immunosupression – vasculitis
Surgery in moyamoya Emergent neurosurgical intervention
for large or rapidly expanding lesions.
4. Sec stroke prevention

5. Rehabilitation

63
Neuroimaging findings:
1. CT: hyperdense region surrounded by edema, intraventicular hemorrhages
2. CT Venography: filling defects
3. MRI: Focal increased diffusion, multifocal and restricted diffusion. Demyelination. Follow
up MRI may show atrophy/ gliosis.
4. MR Angiogram: occlusion, stenosis, decreased flow, puffed smoke appearance (moya moya),
aneurysms, vascular malformations
5. MR Spectroscopy: increased lactate in MELAS
6. Gradient ECHO: can show presence of blood products

DIFFERENTIAL DIAGNOSIS OF STROKELIKE EPISODES IN

CHILDREN
CLINICAL DISTINCTION FROM IMAGING DISTINCTION
DISORDER
STROKE FROM STROKE

Evolving or “marching” symptoms, short

Typically normal
Migraine duration, complete resolution, headache,
Migrainous infarction is rare
personal or family history of migraine

Normal or may identify source of

Positive symptoms, Todd paralysis is
Seizure seizures (e.g., malformation, old
postseizure and limited
injury)

Normal or signs of
Fever, encephalopathy, gradual onset, encephalitis/cerebritis, which are
Infection
meningismus typically diffuse and bilateral

Gradual onset, multifocal symptoms, Multifocal lesions, typical

Demyelination encephalopathy Accompanying optic appearance (e.g., patchy in ADEM,
neuritis ovoid in MS),
Risk factor (e.g., insulin therapy), related to Bilateral, symmetric
Hypoglycemia
meals, additional systemic symptoms Posterior dominant pattern

Watershed Bilateral, symmetric restricted

Risk factor (e.g., hypotension, sepsis, heart
infarction due to diffusion in border zones between
disease), bilateral deficits
global HIE major arteries (watersheds)

Hypertensive Posterior dominant, bilateral,

Documented hypertension, bilateral visual
encephalopathy patchy lesions involving gray and
symptoms, encephalopathy
(PRES) white matter
64
 CLINICAL DISTINCTION FROM IMAGING DISTINCTION
DISORDER
STROKE FROM STROKE

Inborn errors of Pre-existing delays/regression, multisystem MR spectroscopy changes (e.g.,

metabolism disease, abnormal biochemical profiles high lactate in MELAS)

Symptoms limited to vertigo, imbalance

Vestibulopathy Normal
(i.e., no weakness) Gradual onset

Acute cerebellar Sudden onset bilaterally symmetric ataxia

Normal
ataxia postviral

Syndromic cluster of symptoms not

Channelopathy localizing to single lesion Normal
Gradual onset, progressive evolution

Alternating History contralateral events

Normal
hemiplegia Choreoathetosis/dystonia
ADEM, acute disseminated encephalomyelitis; HIE, hypoxic-ischemic encephalopathy; MELAS,
mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; MR, magnetic
resonance; MS, multiple sclerosis; PRES, posterior reversible leukoencephalopathy syndrome.

MIS W HAD A/C HIV (mis world had acute on chronic hiv) migrane, infections, seizure,
watershed infarcts due to HIE, hypoglycemia, ataxia, demyelination, alternating hemiplegia,
channelopathies, HTN, IEM, vestibulopathy.
MSC WAHIDA HIV (MSC chadivey WAHIDA ki HIV vachindi)
8. Viral meningoencepahalitis:
Viral meningoencephalitis is an acute inflammatory process involving the meninges and, to a variable
degree, brain tissue.

Etiology:
Enteroviruses are the most common cause of viral meningoencephalitis.

Arboviruses are arthropod-borne agents, responsible for some cases of meningoencephalitis during
summer months.

Several members of the herpes family of viruses can cause meningoencephalitis. (HSV-1) (HSV-2)
(VZV) (CMV) (EBV) (HHV-6).

Other viruses – mumps and occasionally by respiratory viruses (adenovirus, influenza virus,
parainfluenza virus), rubeola, rubella, or rabies.

Pathogenesis and pathology:

Neurologic damage is caused by direct invasion and destruction of neural tissues by actively
multiplying viruses or by a host reaction to viral antigens.

Temporal lobe - HSV Entire brain – Arbovirus Basal structures - Rabies

Clinical features:
Fever, nausea and vomiting, photophobia, and pain in the neck, back, and legs are common. The
presenting manifestations in older children are headache and hyperesthesia, and in infants, irritability
65
and lethargy. Headache is most often frontal or generalized; adolescents frequently complain of
retrobulbar pain. As body temperature increases, there may be mental dullness, progressing to
stupor in combination with bizarre movements and convulsions. Exanthems often precede or
accompany the CNS signs.

Investigations: The diagnosis of viral encephalitis is usually made on the basis of the clinical
presentation of nonspecific prodrome followed by progressive CNS symptoms. The diagnosis is
supported by examination of the CSF, which usually shows a mild mononuclear predominance. EEG
typically shows diffuse slow-wave activity, usually without focal changes. Neuroimaging studies (CT
or MRI) may show swelling of the brain parenchyma. Isolation of the virus from the CSF. PCR for
entero and HSV.

Treatment: With the exception of the use of acyclovir for HSV encephalitis, treatment of
viral meningoencephalitis is supportive. Treatment of mild disease may require only symptomatic
relief. More severe disease may require hospitalization and intensive care. If cerebral edema or
seizures become evident, vigorous treatment should be instituted.

Prevention:
1. Widespread use of effective viral vaccines for polio, measles, mumps, rubella, and varicella.
2. The availability of domestic animal vaccine programs against rabies has reduced the frequency of
rabies encephalitis.
3. Control of encephalitis due to arboviruses has been less successful because specific vaccines for
the arboviral diseases are not available.
4. Control of insect vectors by suitable spraying methods and eradication of insect breeding sites.
5. Furthermore, minimizing mosquito bites through the application of DEET-containing insect
repellents on exposed skin and wearing long-sleeved shirts, long pants, and socks when outdoors,
especially at dawn and dusk, reduces the risk of arboviral infection.

9. Neural tube defects:

Neural tube defects (NTDs) account for the largest proportion of congenital anomalies of the CNS
and result from failure of the neural tube to close spontaneously between the 3rd and 4th wk of in
utero development.

Causes:
Abnormal maternal Exposure to Drugs
nutritional state radiation before (valproate)
conception Unknown etiology
Hyperthermia
Malnutrition Maternal obesity Mutations in the
Chemicals and diabetes folate pathway

Types
Spina bifida Meningocele Myelomenigocele Anencephaly
occulta
Caudal regression Dermal sinus Tethered cord Syringomyelia
syndrome
encephalocele Diastematomyelia Lipoma involving iniencepahly
the conus

Embryology: The human nervous system originates from the primitive ectoderm that also develops
into the epidermis. The endoderm, particularly the notochordal plate and the intraembryonic
mesoderm, induces the overlying ectoderm to develop the neural plate in the 3rd wk of development.

66
Failure of normal induction is responsible for most of the NTDs.

Investigations:
1. Prenatal screening of maternal serum for AFP in the 16th-18th wk of gestation is an effective
method for identifying pregnancies at risk for fetuses with NTDs in utero.
2. A spine roentgenogram in simple spina bifida occulta shows a defect in closure of the posterior
vertebral arches and laminae, typically involving L5 and S1.
3. Ultrasonography is most helpful in determining the contents of the sac.
4. MRI or CT further helps define the spectrum of the lesion.

Prevention:

1. All women of childbearing age and who are capable of becoming pregnant take 0.4 mg of folic
acid daily.
2. If, however, a pregnancy is planned in high-risk women (previously affected child),
supplementation should be started with 4 mg of folic acid daily, beginning 1 mo before the time of
the planned conception.
3. The modern diet provides about half the daily requirement of folic acid. To increase folic acid
intake, fortification of flour, pasta, rice, and cornmeal with 0.15 mg folic acid per 100 g is usually
recommended.
4. Avoid anti folate drugs.
5. Screening pregnant women at for NTD with AFP.
6. Informative educational programs regarding folic acid vitamin supplementation during
pregnancy.
10. MENINGITIS:

PROTEI
PRESSURE LEUKOCYTES GLUCOSE
CONDITION N
(mm H2O) (mm3) (mg/dL)
(mg/dL)
COMMENTS
>50 (or 75%
<5, ≥75%
Normal 50-80 20-45 Serum
Lymphocytes
Glucose)
COMMON FORMS OF MENINGITIS
Decreased,
Organisms usually
Usually 100-10,000 or usually <40
Acute bacterial Usually seen on Gram stain
elevated more; PMNs (or <50%
meningitis 100-500 and recovered by
(100-300) predominate serum
culture
glucose)

67
 PROTEI
PRESSURE LEUKOCYTES GLUCOSE
CONDITION N
(mm H2O) (mm3) (mg/dL)
(mg/dL)
COMMENTS
>50 (or 75%
<5, ≥75%
Normal 50-80 20-45 Serum
Lymphocytes
Glucose)
HSV encephalitis is
suggested by focal
Generally
seizures or by focal
normal; may
Rarely >1,000 findings on CT or
be decreased
Normal or cells. PMNs early MRI scans or EEG.
Viral meningitis or to <40 in some
slightly but mononuclear Usually Enteroviruses and
meningoencephaliti viral diseases,
elevated cells predominate 50-200 HSV infrequently
s particularly
(80-150) through most of recovered from CSF.
mumps
the course HSV and
(15-20% of
enteroviruses may be
cases)
detected by PCR of
CSF

Acute Bacterial Meningitis Beyond the Neonatal Period:

Bacterial meningitis is one of the most potentially serious infections occurring in infants and older
children.

Etiology:

The most common cause of bacterial meningitis in children 1 mo to 12 yr of age in the developed
countries is Neisseria meningitidis. Bacterial meningitis caused by Streptococcus pneumoniae and
Haemophilus influenzae type b has become much less common in developed countries since the
introduction of universal immunization against these pathogens beginning at 2 mo of age. Other less
common pathogens such as Pseudomonas aeruginosa, Staphylococcus aureus, coagulase-negative
staphylococci, Salmonella spp., and Listeria monocytogenes.

1. Defects of the complement system (C5-C8) associated with recurrent meningococcal infection

2. Defects of the properdin system associated with a significant risk of lethal

meningococcal disease
3. Splenic dysfunction (sickle cell anemia) or is associated with an increased risk of
asplenia (due to trauma, or congenital pneumococcal, H. influenzae type b (to some
defect) extent), and, rarely, meningococcal sepsis and
meningitis.
4. T-lymphocyte defects (congenital or Are associated with an increased risk of L.
acquired by chemotherapy, AIDS, or monocytogenes infections of the CNS.
malignancy)

5. Congenital or acquired CSF leak increased risk of pneumococcal meningitis

6. Lumbosacral dermal sinus and Staphylococcal and gram-negative enteric bacterial

68
 meningomyelocele meningitis.

Epidemiology:

A major risk factor for meningitis is the lack of immunity to specific pathogens associated with
young age. Additional risks include recent colonization with pathogenic bacteria, close contact
(household, daycare centers, college dormitories, military barracks) with individuals having invasive
disease caused by N. meningitidis and H. influenzae type b, crowding, poverty, black or Native
American race, and male gender.

Clinical Manifestations

The onset of acute meningitis has 2 predominant patterns.

The more dramatic and, fortunately, less common presentation is sudden onset with rapidly
progressive manifestations of shock, purpura, disseminated intravascular coagulation (DIC), and
reduced levels of consciousness often resulting in progression to coma or death within 24 hr.

Nonspecific findings include fever, anorexia and poor feeding, headache, symptoms of upper
respiratory tract infection, myalgias, arthralgias, tachycardia, hypotension, and various cutaneous
signs, such as petechiae, purpura, or an erythematous macular rash.

Meningeal irritation is manifested as nuchal rigidity, back pain, Kernig sign (flexion of the hip 90
degrees with subsequent pain with extension of the leg), and Brudzinski sign (involuntary flexion of
the knees and hips after passive flexion of the neck while supine).

Seizures (focal or generalized) due to cerebritis, infarction, or electrolyte disturbances occur in

20-30% of patients with meningitis. Seizures that persist after the 4th day of illness and those that
are difficult to treat may be associated with a poor prognosis.

Diagnosis:

A. Lumbar Puncture: The diagnosis of acute pyogenic meningitis is confirmed by analysis of the CSF,
which typically reveals microorganisms on Gram stain and culture, a neutrophilic pleocytosis,
elevated protein, and reduced glucose concentrations. Hypoglycorrhachia (reduced CSF glucose
levels) is due to decreased glucose transport by the cerebral tissue.

Contraindications for an immediate LP include

(1) Evidence of increased ICP (other than a bulging fontanel), such as 3rd or 6th cranial nerve palsy
with a depressed level of consciousness, or hypertension and bradycardia with respiratory
abnormalities

(2) severe cardiopulmonary compromise requiring prompt resuscitative measures for shock or in
patients in whom positioning for the LP would further compromise cardiopulmonary function; and

(3) Infection of the skin overlying the site of the LP.

(4) Thrombocytopenia is a relative contraindication for LP.

B. Blood cultures should be performed in all patients with suspected meningitis. Blood cultures
69
reveal the responsible bacteria in up to 80-90% of cases of meningitis.

C. CT scan: for evidence of a brain abscess, basal skull fractures, cribriform bone abnormalities or
increased ICP.

D. ultrasound abdomen- Splenic malformations

E. MRI- myelomeningocele

F. Complement levels

G. blood- complete counts, renal function tests, SGOT, SGPT, PT, PTT

H. urine- microscopy, culture and osmolality.

Treatment:

1. Antibiotics:

Based on the substantial rate of resistance of S. vancomycin (60 mg/kg/24 hr, given every 6 hr)
pneumoniae to β-lactam drugs, for 10- 14 days
S. pneumoniae, N. meningitidis, and H. influenzae cefotaxime (200 mg/kg/24 hr, given every 6 hr) or
type b, ceftriaxone (100 mg/kg/24 hr administered once per
day or 50 mg/kg/dose, given every 12 hr) for 7- 10
days
If L. monocytogenes infection is suspected, as in ampicillin (200 mg/kg/24 hr, given every 6 hr)
young infants or those with a T-lymphocyte
deficiency Intravenous trimethoprim-sulfamethoxazole is an
alternative treatment for L. monocytogenes
If a patient is immunocompromised and initial therapy might include ceftazidime and an
gram-negative bacterial meningitis is suspected, aminoglycoside.

2. Corticosteroids

Rapid killing of bacteria in the CSF effectively sterilizes the meningeal infection but releases toxic
cell products after cell lysis (cell wall endotoxin) that precipitate the cytokine-mediated
inflammatory cascade. Therefore, agents that limit production of inflammatory mediators may be of
benefit to patients with bacterial meningitis.

Data support the use of intravenous dexamethasone, 0.15 mg/kg/dose given every 6 hr for 2 days,
in the treatment of children older than 6 wk with acute bacterial meningitis caused by H. influenzae
type b.

3. Glycerol:Glycerol increases plasma osmolality, reducing CNS edema and enhancing cerebral
circulation.

4. Supportive Care

a) Pulse rate, blood pressure, and respiratory rate should be monitored frequently.
70
b) Neurologic assessment, including pupillary reflexes, level of consciousness, motor strength,
cranial nerve signs, and evaluation for seizures, should be made frequently in the 1st 72 hr, when the
risk of neurologic complications is greatest.

c) Patients should initially receive nothing by mouth.

d) If a patient is judged to be normovolemic, with normal blood pressure, intravenous fluid

administration should be restricted to one half to two thirds of maintenance.

e) Patients with shock, a markedly elevated ICP, coma, and refractory seizures require intensive
monitoring with central arterial and venous access and frequent vital signs, necessitating admission to
a pediatric intensive care unit.

f) Seizures are common during the course of bacterial meningitis. Immediate therapy for seizures
includes intravenous diazepam (0.1-0.2 mg/kg/dose) or lorazepam (0.05-0.10 mg/kg/dose). Phenytoin
is preferred to Phenobarbital.

Complications:

1. During the treatment of meningitis, acute CNS complications can include seizures, increased ICP,
cranial nerve palsies, stroke, cerebral or cerebellar herniation, and thrombosis of the dural venous
sinuses.

2. SIADH occurs in some patients with meningitis, resulting in hyponatremia and reduced serum
osmolality. This may exacerbate cerebral edema or result in hyponatremic seizures (Chapter 52).

3. Prolonged fever (>10 days) is noted in about 10% of patients. Prolonged fever is usually due to
intercurrent viral infection, nosocomial or secondary bacterial infection, thrombophlebitis, or drug
reaction.

4. Nosocomial infections are especially important to consider in the evaluation of these patients.

5. Pericarditis or arthritis may occur in patients being treated for meningitis, especially that caused
by N. meningitidis.

6. Anemia may be due to hemolysis or bone marrow suppression.

7. DIC is most often associated with the rapidly progressive pattern of presentation and is noted most
commonly in patients with shock and purpura.

8. The combination of endotoxemia and severe hypotension initiates the coagulation cascade; the
coexistence of ongoing thrombosis may produce symmetric peripheral gangrene.

9. Severe neurodevelopmental sequelae may occur in 10-20% of patients recovering from bacterial
meningitis.

10. Sensorineural hearing loss is the most common sequela of bacterial meningitis

Prevention: Vaccination and antibiotic prophylaxis of susceptible at-risk contacts represent the 2
available means of reducing the likelihood of bacterial meningitis.

71
11. Seizures: A seizure is a transient occurrence of signs and/or symptoms resulting from
abnormal excessive or synchronous neuronal activity in the brain.

Types:
SELF-LIMITED SEIZURE TYPES CONTINUOUS SEIZURE TYPES
Focal Seizures Generalized Status Epilepticus
Focal sensory seizures Generalized tonic-clonic status
Focal motor seizures epilepticus
Gelastic seizures Clonic status epilepticus
Absence status epilepticus
Generalized Seizures
Tonic status epilepticus
Tonic-clonic seizures
Myoclonic status epilepticus
Clonic seizures
Focal Status Epilepticus

Epilepsia partialis continua

Typical absence seizures Hemiconvulsive status with hemiparesis
Atypical absence seizures
Myoclonic absence seizures
Tonic seizures

Simple febrile seizure:

Febrile seizures are seizures that occur between the age of 6 and 60 mo with a temperature of 38C or
higher, that are not the result of central nervous system infection or any metabolic imbalance, and
that occur in the absence of a history of prior afebrile seizures.

A simple febrile seizure is a primary generalized, usually tonic-clonic, attack associated with fever,
lasting for a maximum of 15 min, and not recurrent within a 24-hour period.

A complex febrile seizure is more prolonged (>15 min), is focal, and/or recurs within 24 hr.

Febrile status epilepticus is a febrile seizure lasting >30 min.

RISK FACTORS FOR RECURRENCE OF FEBRILE SEIZURES:

MAJOR MINOR Ppt stimuli for

seizures
Family history of febrile seizures Visual stimuli
Age <1 yr
Family history of epilepsy Thinking
Duration of fever <24 hr Complex febrile seizure Music
Day care Male gender Eating
Fever 38-390C
Reading
Hot water
Lower serum sodium

72
 RISK FACTORS FOR OCCURRENCE OF SUBSEQUENT EPILEPSY
RISK FACTOR RISK FOR SUBSEQUENT EPILEPSY
Simple febrile seizure 1%
Neurodevelopmental abnormalities 33%
Focal complex febrile seizure 29%
Family history of epilepsy 18%
Fever <1 hr before febrile seizure 11%
Complex febrile seizure, any type 6%
Recurrent febrile seizures 4%

Genetic: FEB 1-7 gene

Syndromes starting as febrile seizures: dravet syndrome, temporal lobe epilepsy secondary to
mesial temporal sclerosis and generalised epilepsy with febrile seizures plus.

Investigations:

1. Lumbar puncture: Lumbar puncture is recommended in children <12

mo of age after their first febrile seizure to rule out meningitis. A child between 12 and 18 mo of age
should also be considered for lumbar puncture. For children >18 mo of age, a lumbar puncture is
indicated in the presence of clinical signs and symptoms of meningitis.

2. EEG If the child is presenting with his

or her first simple febrile seizure and is otherwise neurologically healthy, an EEG need not normally
be performed as part of the evaluation. If an EEG is indicated as in intermediate or high risk child it
is delayed until or repeated after >2 wk have passed.

3. BLOOD STUDIES: Blood studies (serum electrolytes, calcium,

phosphorus, magnesium, and complete blood count [CBC]) are not routinely recommended in the
work-up of a child with a first simple febrile seizure.

4. Neuroimaging: A CT or MRI is not recommended in evaluating the

child after a first simple febrile seizure.

TREATMENT:

In general, antiepileptic therapy, continuous or intermittent, is not recommended for children with
one or more simple febrile seizures.

Parents should be counselled about the relative risks of recurrence of febrile seizures and recurrence
of epilepsy, educated on how to handle a seizure acutely, and given emotional support.

If seizures last for more than 5 minutes intranasal midazolam may be used.

Intermittent prophylaxis: diazepam, cloabazam and clonazeapam may be used.

Chronic antiepileptic therapy may be considered for children with a high risk for later epilepsy.

Prognosis:

1. Between 2% and 5% of neurologically healthy infants and children experience at least 1,

73
 usually simple, febrile seizure.
2. Febrile seizures recur in approximately 30% of those experiencing a first episode, in 50%
after 2 or more episodes, and in 50% of infants <1 yr old at febrile seizure onset.
3. Only 2-7% of children who experience febrile seizures proceed to develop epilepsy later in
life.

12. Microcephaly:

Def: Microcephaly is defined as a head circumference that measures more than 3 standard deviations
below the mean for age and sex.

Causes:
Primary Secondary
Familial Cong inf - cmv, rubella, toxoplasma
Autosomal dominant Drugs - fetal alcohol, fetal hydantoin
Genetic downs, Edwards, cri du chat Others - radiation, malnutrition, HIE

Diagnosis:
1. Thorough family history
2. Serial head circumference
3. Head circumference of the parents.
4. Mothers serum phenyalanine if the cause of Microcephaly not found
5. Karyotyping if abnormal facies, short stature
6. CT scan to detect calicifiactions
7. MRI to detect structural anomalies
8. TORCH titers and urine culture for CMV.
9. HIV testing for both mother and the child.
10. single gene mutation study

13. CONDITIONS THAT MIMIC SEIZURES ACCORDING TO AGE OF

PRESENTATION
GENERALIZE ABNORMAL
OCULOMOTOR SLEEP
AGE D MOVEMENTS AND
ABNORMALITIES DISORDERS
PAROXYSMS POSTURES
Apnea Paroxysmal tonic up
Benign neonatal
Hyperekplexia gaze
Jitteriness sleep myoclonus
Jitteriness
Neonate Paroxysmal dystonic
Paroxysmal Alternating
choreoathetosis Sleep transition
extreme pain hemiplegia of
disorders
disorder childhood

74
 GENERALIZE ABNORMAL
OCULOMOTOR SLEEP
AGE D MOVEMENTS AND
ABNORMALITIES DISORDERS
PAROXYSMS POSTURES
Hyperekplexia
Reflex anoxic Jitteriness
seizures Benign myoclonus of Non-REM partial

Breath-holding early infancy Paroxysmal tonic up arousal disorders

spells Shuddering attacks gaze
Infants
Opsoclonus REM sleep
Pathologic startle Alternating hemiplegia myoclonus syndrome
Paroxysmal of childhood disorders

extreme pain Drug reactions Narcolepsy

disorder

Tics
Non-REM partial
Benign Tremor
paroxysmal arousal disorders
vertigo Benign paroxysmal
REM sleep
Pathologic startle torticollis
Compulsive disorders
valsalva Episodic ataxia
Narcolepsy
Alternating Episodic rage
Children
hemiplegia of Sleep transition
and Psychologic disorders Daydreaming
childhood
adolescen Drug reactions disorders
Familial including Munchausen
ts
hemiplegic (somnambulism,
migraine syndrome by proxy,
somniloquy)
Syncope malingering
Psychogenic Sleep myoclonus
seizures Masturbation
Restless legs
Hyperventilation head banging
spells syndrome
Drug reactions

14. HMSN: Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease; HMSN

Type I)

The hereditary motor-sensory neuropathies (HMSNs) are a group of progressive diseases of

peripheral nerves. Motor components generally dominate the clinical picture, but sensory and
autonomic involvement is expressed later.

Clinical Manifestations:

Asymptomatic until late childhood.

75
The peroneal and tibial nerves are the earliest and most severely affected. Children with the disorder
are often described as being clumsy, falling easily, or tripping over their own feet.
Muscles of the anterior compartment of the lower legs become wasted, and the legs have a
characteristic stork-like contour. The muscular atrophy is accompanied by progressive weakness of
dorsiflexion of the ankle and eventual footdrop. Pes cavus and claw hand are also seen.

Axial muscles, spincter control and Cranial nerves are not involved.

Sensory involvement mainly affects large myelinated nerve fibers that convey proprioceptive
information and vibratory sense. Because the muscle mass is reduced, the nerves are more vulnerable
to trauma or compression. Nerves often become palpably enlarged. Autonomic neuropathy does
not affect the heart, gastrointestinal tract, or bladder. Intelligence is normal.

Laboratory Findings and Diagnosis:

Motor and sensory nerve conduction velocities are greatly reduced, sometimes as slow as 20% of
normal conduction time.
Electromyography (EMG) and muscle biopsy are not usually required for diagnosis, but they show
evidence of many cycles of denervation and reinnervation. Serum creatine kinase level is normal.
Sural nerve biopsy is diagnostic. Large- and medium-sized myelinated fibers are reduced in
number, collagen is increased, and characteristic onion bulb formations of proliferated Schwann
cell cytoplasm surround axons. The definitive molecular genetic diagnosis may be made in blood.

Treatment:

Stabilization of the ankles is a primary concern.

In early stages, stiff boots that extend to the mid-calf often suffice. As the dorsiflexors of the ankles
weaken further, lightweight plastic splints may be custom made to extend beneath the foot and
around the back of the ankle. Surgical fusion of the ankle may be considered in some cases.

The leg should be protected from traumatic injury. In advanced cases, compression neuropathy
during sleep may be prevented by placing soft pillows beneath or between the lower legs. Burning
paresthesias of the feet are not common but are often abolished by phenytoin or carbamazepine.
No medical treatment is available to arrest or slow the progression.

15. PATTERN OF WEAKNESS AND LOCALIZATION IN THE FLOPPY INFANT

ANATOMI
C REGION CORRESPONDI
OF NG PATTERN OF WEAKNESS AND INVOLVEMENT
HYPOTON DISORDERS
IA

76
ANATOMI
C REGION CORRESPONDI
OF NG PATTERN OF WEAKNESS AND INVOLVEMENT
HYPOTON DISORDERS
IA
Chromosomal
disorders
Inborn errors of Central hypotonia
Central metabolism Axial hypotonia more prominent
nervous Cerebral
system Hyperactive reflexes
dysgenesis
Cerebral, spinal
cord trauma

Generalized weakness;
Motor Spinal
often spares the diaphragm, facial muscles, pelvis, and
neuron muscular atrophy
sphincters

Peripheral Distal muscle groups involved

Nerve Weakness with wasting
neuropathies

Myasthenia
Neuromuscu syndromes Bulbar, oculomotor muscles exhibit greater degree of
lar junction Infantile botulisminvolvement

Congenital
myopathies
Metabolic Weakness is prominent
myopathies Proximal musculature
Muscle CMD Hypoactive reflexes
Congenital Joint contractures
myotonic
dystrophy

DISTINGUISHING FEATURES OF DISORDERS OF THE MOTOR SYSTEM

conditions MUSCLE
WEAKNESS DTR EMG OTHER
LOCUS OF BIOPSY
LESION Proxima
Face
l-Distal
Cerebral Seizures,
Norma dysgenesis hemiparesis, and
Central 0 > or = Normal Normal
l or ↑ delayed
development

77
 conditions MUSCLE
WEAKNESS DTR EMG OTHER
LOCUS OF BIOPSY
LESION Proxima
Face
l-Distal

Ventral horn Fasciculations SMA Denervati Fasciculations

Late > or = 0
cell and fibrillations on pattern (tongue)
HMSN Sensory
deficit, elevated
Peripheral Denervati cerebrospinal
0 < ↓ Fibrillations
nerve on pattern fluid protein,
depressed
nerve biopsy

Decremental Myastheni Response to

response a neostigmine or
(myasthenia); edrophonium
Neuromuscul Norma
+++ = incremental Normal (myasthenia);
ar junction l
response and constipation
BSAP and fixed pupils
(botulism) (botulism)

Short duration, Myopathie

small-amplitud s
Variabl e motor unit Elevated
Myopathic
Muscle e (+ to > ↓ potentials and muscle enzyme
pattern
++++) myopathic levels (variable)
polyphasic
potentials
BSAP, brief duration, small amplitude, overly abundant motor unit potentials

16. Bells palsy:

Bell palsy is an acute unilateral facial nerve palsy that is not associated with other cranial
neuropathies or brainstem dysfunction. It is a common disorder at all ages from infancy through
adolescence and usually develops abruptly about 2 wk after a systemic viral infection.

Causes:
Common: herpes simplex type 1 varicelle zoster virus
Uncommon: EBV, CMV, HSV6, MUMPS, MYCOPLASMA, Trauma, tumour, ribavarin,
interferon α

78
Clinical features: The upper and lower portions of the face are paretic, and the corner of the
mouth droops. Patients are unable to close the eye on the involved side and can develop an exposure
keratitis at night. Taste on the anterior 2/3 of the tongue is lost on the involved side in about 50% of
cases. Several grading systems have been devised for Bell palsy, including the Sunnybrook,
House-Brackmann, and Yanagihara systems.

Treatment:

Oral prednisone (1 mg/kg/day for 1 wk, followed by a 1-wk taper) started within the first 3-5 days
results in improved outcome and is a traditional treatment. Some also recommend adding oral
acyclovir or valacyclovir to the prednisone therapy.
Surgical decompression of the facial canal, is not of value.
Physiotherapy to the facial muscles.
Protection of the cornea with methylcellulose eyedrops or an ocular lubricant is especially important
at night.

17. Movement disorders:

Selected types of involuntary movements
Hypokinetic parkinsonism
Hyperkinetic tics, tremors, chorea, athetosis, ballismus, myoclonus and restless leg syndrome.

CHOREA:

Chorea, meaning “dance-like” in Greek, refers to rapid, chaotic movements that seem to flow from
one body part to another.

Classification: Chorea can be divided into primary (i.e., disorders in which chorea is
the dominant symptom and the etiology is presumed to be genetic) and secondary forms, with the
vast majority of pediatric cases falling into the latter category

79
 STRUCTUR PARAINFECTI INFECTIOU METABOLIC OR Drugs
GENETIC CHOREAS AL OUS AND S CHOREA TOXIC
BASAL-GA AUTOIMMUN ENCEPHALOPAT
HIV Phenothia
Huntington diseaseNGLIA E DISORDERS HIES
encephalop
LESIONS
(rarely presents with zines
Sydenham athy Acute intermittent
chorea in childhood)Vascular chorea Toxoplasm porphyria l-Dopa
chorea in Systemic osis
Neuroacanthocytosisstroke Hypo/hypernatremia
phenytoin
lupus Cysticercos
Ataxia telangiectasiaMass erythematosus Hypocalcemia
is valproic
Hyperthyroidism
Benign hereditarylesions Antiphospholi Diphtheria acid
chorea (e.g., CNS pid antibody Hypoparathyroidism
lymphoma Bacterial amphetam
syndrome endocarditi Hepatic/renal failure
Spinocerebellar ,
Postinfectious
ataxia (types 2, 3, ormetastatic
s Mercury poisoning ines
or
brain Scarlet
17) postvaccinal Organophosphate verapamil
tumors) fever
encephalitis poisoning lithium
Multiple Viral
Paraneoplasti encephalitis TCA
sclerosis c choreas
plaques (mumps,
theophylli
measles,
varicella) ne

Sydenham chorea (SC, St. Vitus dance) is the most common acquired chorea of childhood. It
occurs in 10% to 20% of patients with acute rheumatic fever, typically weeks to months after a
group A β-hemolytic streptococcal infection. Peak incidence is at age 8 to 9 yr, with a female
predominance of 2: 1.

Pathophysiologically, antibodies against the N-acetyl-β-d-glucosamine epitope (GlcNAc) of

streptococcal group A carbohydrate have been shown to cause the neurologic manifestations of SC by
increasing dopamine release into the synapse.

The clinical hallmarks of SC are chorea, hypotonia, and emotional lability. Hypotonia manifests
with the “pronator sign” (arms and palms turn outward when held overhead) and the “choreic
hand” (spooning of the extended hand by flexion of the wrist and extension of the fingers). When
chorea and hypotonia are severe, the child may be incapable of feeding, dressing, or walking.
Affected individuals exhibit motor impersistence, with difficulty keeping the tongue protruded
80
(“darting tongue”) or maintaining grip (“milkmaid grip”). Chorea tends to occur both at rest and
with action. Chorea increases with stress and disappears in sleep.

Diagnosis: Sydenham chorea is a clinical diagnosis; however, a combination of acute and

convalescent serum antistreptolysin O titers may help to confirm an acute streptococcal infection.
Negative titers do not exclude the diagnosis.

Treatment: All patients with SC should be evaluated for carditis and started on long-term
antibiotic prophylaxis (e.g., penicillin G benzathine 1.2 million units IM every 2-3 weeks) to
decrease the risk of rheumatic heart disease. For patients with chorea that is impairing, treatment
options include valproate, carbamazepine, and/or dopamine receptor antagonists. Although
phenothiazines, haloperidol, and pimozide are also effective, their side effects limit their utility.

18. Ataxia:
Ataxia is the inability to make smooth, accurate, and coordinated movements, usually due to a
dysfunction of the cerebellum, its inputs or outputs, sensory pathways in the posterior columns of the
spinal cord, or a combination of these.

Causes of acute or recurrent ataxia

Brain tumor
Conversion reaction Postinfectious/immune
Drug ingestion Acute disseminated encephalomyelitis
Encephalitis (brainstem) Acute postinfectious cerebellitis
Genetic disorders (varicella)
Episodic ataxia type 1 Miller Fisher syndrome
Episodic ataxia type 2 Multiple sclerosis
Hartnup disease Pseudoataxia (epileptic)
Maple syrup urine disease Trauma
Hematoma
Hereditary ataxia Postconcussion
Ataxia telangiectasia Vertebrobasilar occlusion
Friedrich ataxia Vascular disorders
Abetalipoprotinemia
Cerebellar hemorrhage
Migraine
Kawasaki disease
Basilar
Benign paroxysmal vertigo

19. Myasthenia gravis:

Myasthenia gravis is a chronic disease characterized by rapid fatigability of striated muscle. The most
common cause is an immune-mediated neuromuscular blockade. The release of acetylcholine (ACh)
into the synaptic cleft by the axonal terminal is normal, but the postsynaptic muscle membrane or
81
motor endplate is less responsive than normal. A decreased number of available ACh receptors are
due to circulating receptor-binding antibodies in most cases of acquired myasthenia.

Clinical Manifestations:

Three clinical varieties are distinguished in childhood: juvenile myasthenia gravis in late infancy
and childhood, congenital myasthenia, and transient neonatal myasthenia.

In the juvenile form, ptosis and some degree of extraocular muscle weakness are the earliest and
most constant signs. Dysphagia and facial weakness are also common, and in early infancy, feeding
difficulties are often the cardinal sign of myasthenia.

Rapid fatigue of muscles is a characteristic feature of myasthenia gravis that distinguishes it from
most other neuromuscular diseases.

Patients are more symptomatic late in the day or when tired. Dysphagia can interfere with eating,
and the muscles of the jaw soon tire when an affected child chews.

Left untreated, myasthenia gravis is usually progressive and can become life threatening

Investigations:

EEG- characteristic decremental response.

Anti Ach antibodies

Thyroid profile and CPK

Muscle biopsy may show lymphorrhages

A clinical test for myasthenia gravis is administration of a short-acting cholinesterase inhibitor,

usually edrophonium chloride. Ptosis and ophthalmoplegia improve within a few seconds, and
fatigability of other muscles decreases.

Treatment:

Cholinesterase inhibiting drugs neostigmine and physostigmine

Steroid treatment

Thymectomy

Plasmapheresis/ IVIG/ rituximab

20. Cerebral palsy:

Cerebral palsy (CP) is a diagnostic term used to describe a group of permanent disorders of
movement and posture causing activity limitation that are attributed to non progressive disturbances
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in the developing fetal or infant brain.

CLASSIFICATION OF CEREBRAL PALSY AND MAJOR CAUSES

MOTOR SYNDROME
NEUROPATHOLOGY/MRI MAJOR CAUSES
(APPROX % OF CP)
Prematurity
Periventricular leukomalacia Ischemia
Periventricular cysts or scars in
Spastic diplegia (35%)
White matter, enlargement of ventricles, Infection
squared of posterior ventricles
Endocrine/metabolic (e.g.,
thyroid)
Periventricular leukomalacia Ischemia, infection
Spastic quadriplegia
(20%) Multicystic encephalomalacia Endocrine/metabolic,
Cortical malformations genetic/developmental
Thrombophilic disorders
Stroke: in utero or neonatal Infection
Focal infarct or cortical, subcortical
Hemiplegia (25%) Genetic/developmental
damage
Cortical malformations
Periventricular hemorrhagic
infarction
Asphyxia
Asphyxia: symmetric scars in putamen and
thalamus Kernicterus
Kernicterus: scars in globus pallidus,
Extrapyramidal (athetoid, Mitochondrial
hippocampus
dyskinetic) (15%)
Mitochondrial: scaring globus pallidus,
caudate, putamen, brainstem
Genetic/metabolic
No lesions: ? dopa-responsive dystonia

Diagnosis:

A thorough history and physical examination should preclude a progressive disorder of the CNS,
including degenerative diseases, metabolic disorders, spinal cord tumor, or muscular dystrophy.

An MRI scan of the brain is indicated to determine the location and extent of structural lesions or
associated congenital malformations; MRI with diffusion tensor imaging (DTI) is being used to
map white matter tracks more precisely.

Additional studies may include tests of hearing and visual function.

Genetic evaluation should be considered in patients with congenital malformations (chromosomes)

or evidence of metabolic disorders (e.g., amino acids, organic acids, MR spectroscopy).

Tests to detect inherited thrombophilic disorders may be indicated in patients in whom an in utero
or neonatal stroke is suspected as the cause of CP.

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Treatment:

1. Because CP is usually associated with a wide spectrum of developmental disorders, a

multidisciplinary approach is most helpful in the assessment and treatment of such children.

2. A team of physicians from various specialties, as well as occupational and physical therapists,
speech pathologists, social workers, educators, and developmental psychologists provide important
contributions to the treatment of those children who develop CP.

3. Several drugs have been used to treat spasticity, including the benzodiazepines and baclofen.

4. ophthalmologist should be included in the initial assessment.

5. Lower urinary tract dysfunction should receive prompt assessment and treatment.

6. Surgery-- rhizotomy, tenotomy of Achilles tendon, Botulinum toxin injected into specific
muscle groups for the management of spasticity shows a very positive response in many patients and
intrathecal baclofen delivered with an implanted pump has been used successfully.

21. ADEM: ADEM is an initial inflammatory, demyelinating event

with multifocal neurologic deficits, typically accompanied by encephalopathy.
Mean age between 5 and 8 yr with a slight male predominance.

Etiopathogenesis: Molecular mimicry induced by infectious exposure or vaccine

may trigger production of CNS autoantigens. Many patients experience a transient febrile illness in
the month prior to ADEM onset. Preceding infections associated with ADEM include influenza,
Epstein-Barr virus, cytomegalovirus, varicella, enterovirus, measles, mumps, rubella, herpes simplex,
and Mycoplasma pneumoniae. Postvaccination ADEM has been reported following immunizations
for rabies, smallpox, measles, mumps, rubella, Japanese encephalitis B, pertussis,
diphtheria-polio-tetanus, and influenza.

Clinical Manifestations: Initial symptoms of ADEM may include lethargy,

fever, headache, vomiting, meningeal signs, and seizure, including status epilepticus.
Encephalopathy is a hallmark of ADEM and common neurologic signs in ADEM include visual loss,
cranial neuropathies, ataxia, motor and sensory deficits, plus bladder/bowel dysfunction with
concurrent spinal cord demyelination.

Neuroimaging: Head CT may be normal or show

hypodense regions. Cranial MRI, the imaging study of choice, typically exhibits large, multifocal

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and sometimes confluent or tumefactive T2 lesions with variable enhancement within white and
often gray matter. Serial MRI imaging 3-12 mo following ADEM shows improvement and often
complete resolution of T2 abnormalities although residual gliosis may remain.

Laboratory Findings: There is no biologic marker for

ADEM and laboratory findings can vary widely. CSF studies often exhibit pleocytosis. CSF protein
can be elevated. Up to 10% of ADEM have oligoclonal bands in the CSF . Electroencephalograms
(EEG) often show generalized slowing, consistent with encephalopathy.

Differential Diagnosis: Follow-up MRI examinations 3-12 mo

after ADEM should show improvement; new or enlarging T2 lesions should prompt re-evaluation for
other etiologies such as MS, leukodystrophies, tumor, vasculitis, or mitochondrial, metabolic, or
rheumatologic disorders.

Treatment: High dose intravenous steroids

are commonly employed (typically methylprednisolone 20-30 mg/kg per day for 5 days with a
maximum dose of 1,000 mg per day). An oral prednisone taper over 1 mo may prevent relapse. Other
treatment options include intravenous immune globulin (IVIG; usually 2 g/kg administered over 2-5
days) or plasmapheresis (typically 5-7 exchanges administered every other day).

Prognosis: Many children experience full

recovery after ADEM but some are left with residual motor and/or cognitive deficits. ADEM is
usually a monophasic illness but demyelinating symptoms can fluctuate for several months.

CLINICAL AND MRI FEATURES THAT MAY DISTINGUISH FROM FIRST ATTACK OF
MS
MS
ADEM
Age <10 yr >10 yr
Stupor/coma + −
Fever/vomitin
+ −
g
Family history No 20%
Sensory
+ +
complaints
Optic neuritis Bilateral Unilateral
Manifestations Polysymptomatic Monosymptomatic
85
 MS
ADEM
Widespread lesions: basal ganglia, Isolated lesions: periventricular white
MRI imaging
thalamus, cortical gray-white junction matter, corpus callosum
CSF Pleocytosis (lymphocytosis) Oligoclonal bands
Response to
+ +
steroids
Follow-up No new lesions New lesions

Oligoclonal bands are also found in:

• Multiple sclerosis, Devic's disease, Systemic lupus erythematosus, Neurosarcoidosis, SSPE
Subarachnoid hemorrhage, Syphilis, CNS Lymphoma.

22. Mitochondrial Encephalomyopathies:

Def: Mitochondrial encephalomyopathies are a heterogeneous group of clinical

syndromes caused by genetic lesions that impair energy production through oxidative
phosphorylation.

Clinical features: Signs of brain and muscle dysfunction (seizures, weakness, ptosis, external
ophthalmoplegia, psychomotor regression, hearing loss, movement disorders, and ataxia) in
association with lactic acidosis are prominent features of mitochondrial disorders. Cardiomyopathy
and diabetes mellitus can also result from mitochondrial disorders. Children with mitochondrial
disorders often have multifocal signs that are intermittent or relapsing-remitting, often in association
with intercurrent illness.

mtDNA is distinct from nDNA for the following reasons:

(1) Its genetic code differs from nDNA,

(2) It is tightly packed with information because it contains no introns,

(3) It is subject to spontaneous mutations at a higher rate than nDNA,

(4) It has less efficient repair mechanisms, and

(5) It is present in hundreds or thousands of copies per cell and is transmitted by maternal
inheritance.

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mtDNA is contributed only by the oocyte in the formation of the zygote.

Mitochondrial diseases can be caused by mutations of nuclear DNA (nDNA) or mtDNA.

Diseases of mitochondrial oxidative phosphorylation can be divided into 3 groups: (1) defects of
mtDNA, (2) defects of nDNA, and (3) defects of communication between the nuclear and
mitochondrial genome.

Mitochondrial diseases caused by defects in nDNA include

a) defects in substrate transport (plasmalemmal carnitine transporter, carnitine palmitoyltransferase I

and II, carnitine acylcarnitine translocase defects),

b) defects in substrate oxidation (pyruvate dehydrogenase complex, pyruvate carboxylase,

intramitochondrial fatty acid oxidation defects),

c) defects in the Krebs cycle (α-ketoglutarate dehydrogenase, fumarase, aconitase defects), and

d) defects in the respiratory chain (complexes I-V) including defects of oxidation/phosphorylation

coupling (Luft syndrome) and defects in mitochondrial protein transport.

Diseases caused by defects in mtDNA can be divided into those

a) associated with point mutations that are maternally inherited (e.g., LHON, MELAS, MERRF,
and NARP syndromes) and

b) those due to deletions or duplications of mtDNA that reflect altered communication between the
nucleus and the mitochondria (KSS; Pearson syndrome and progressive external ophthalmoplegia
[PEO]).

1. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (Melas):

Children with MELAS may be normal for the 1st several years, but they gradually display
delayed motor and cognitive development and short stature.

The clinical syndrome is characterized by

(1) recurrent strokelike episodes of hemiparesis or other focal neurologic signs with lesions most
commonly seen in the posterior temporal, parietal, and occipital lobes (CT or MRI evidence of focal
brain abnormalities);

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(2) lactic acidosis, ragged red fibers (RRF), or both; and

(3) at least 2 of the following: focal or generalized seizures, dementia, recurrent migraine headaches,
and vomiting.

Investigations: Regional cerebral hypoperfusion can be detected by single-photon emission

CT (SPECT) studies and MR spectroscopy can detect focal areas of lactic acidosis in the brain.
Neuropathology may show cortical atrophy. Muscle biopsy specimens usually show RRF.

Treatment: The prognosis in patients with the full syndrome is poor. Therapeutic trials
reporting some benefit have included corticosteroids, coenzyme Q10, nicotinamide, riboflavin,
and L-arginine and preclinical studies reported some success with resveratrol.

2. Reversible Infantile Cytochrome C Oxidase Deficiency Myopathy:

A reversible form of severe neuromuscular weakness and hypotonia in infants was recently
characterized and found to be due to a maternally inherited homoplasmic m.14674T>C
mt-tRNAGlu mutation associated with a deficiency of cytochrome c oxidase (COX) in 17 patients
from 12 families. Affected children presented within the 1st few weeks of life with hypotonia,
severe muscle weakness and very elevated serum lactate levels, and they often required
mechanical ventilation. Muscle biopsies taken from these children in the neonatal period show
ragged red fibers and deficient COX activity, but these findings disappeared within 5-20 mo when
the infants recovered spontaneously. This reversible disorder has been observed only in COX
deficiency associated with the 14674T>C mt-tRNAGlu mutation, so it has been suggested that infants
with this type of severe weakness in the neonatal period be tested for this mutation to help with
prognosis.

3. Myoclonus Epilepsy and Ragged Red Fibers (MERRF):

This syndrome is characterized by progressive myoclonic epilepsy, mitochondrial myopathy, and

cerebellar ataxia with dysarthria and nystagmus. Pathologic findings include elevated serum lactate
concentrations, RRF on muscle biopsy, and marked neuronal loss and gliosis. Targeted mutation
analysis or mutation analysis after sequencing of the mitochondrial genome are used to diagnosis
MERRF. There is no specific therapy, although coenzyme Q10 appeared to be beneficial in a
mother and daughter with the MERRF mutation. The anticonvulsant levetiracetam has been reported
to help reduce myoclonus and myoclonic seizures in this disorder.

4. Leigh Disease (Subacute Necrotizing Encephalomyopathy):

There are several known genetically determined causes of Leigh disease: pyruvate dehydrogenase
88
complex deficiency, complex I or II deficiency, complex IV (COX) deficiency, complex V (ATPase)
deficiency, and deficiency of coenzyme Q10.

Clinical features: Leigh disease is a progressive degenerative disorder, and most cases become
apparent during infancy with feeding and swallowing problems, vomiting, and failure to thrive.
Delayed motor and language milestones may be evident, and generalized seizures, weakness,
hypotonia, ataxia, tremor, pyramidal signs, and nystagmus are prominent findings. Intermittent
respirations with associated sighing or sobbing are characteristic and suggest brainstem dysfunction.

Investigations: Abnormal results on CT or MRI scan consist of bilaterally symmetric

areas of low attenuation in the basal ganglia and brainstem as well as elevated lactic acid on MR
spectroscopy. Microscopically, these spongiform lesions show cystic cavitation with neuronal loss,
demyelination, and vascular proliferation.

Treatment: The overall outlook is poor, but a few patients experience prolonged periods of
remission. There is no definitive treatment for the underlying disorder, but a range of vitamins
including riboflavin, thiamine, and coenzyme Q are often given to try to improve mitochondrial
function. Biotin, creatine, succinate, and idebenone as well as a high-fat diet have also been used, but
phenobarbital and valproic acid should be avoided due to their inhibitory effect on the
mitochondrial respiratory chain.

5. Leber Hereditary Optic Neuropathy (LHON):

LHON is characterized acute or subacute visual loss caused by severe bilateral optic atrophy. The
classic ophthalmologic features include circumpapillary telangiectatic microangiopathy and
pseudoedema of the optic disc. Variable features may include cerebellar ataxia, hyperreflexia,
Babinski sign, psychiatric symptoms, peripheral neuropathy, or cardiac conduction abnormalities
(pre-excitation syndrome). Lactic acidosis and RRF tend to be conspicuously absent in LHON.

6. Kearns-Sayre Syndrome (KSS):

The criteria for KSS include a triad of

(1) onset before age 20 yr,

(2) progressive external ophthalmoplegia (PEO) with ptosis, and

(3) pigmentary retinopathy.

There must also be at least 1 of the following: heart block, cerebellar syndrome, or cerebrospinal
fluid protein >100 mg/dL.

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The prognosis is guarded, despite placement of a pacemaker, and progressively downhill, with death
resulting by the 3rd or 4th decade. Muscle biopsy shows RRF and variable COX-negative fibers.
Patients should be monitored closely for endocrine abnormalities, which can be treated. Coenzyme Q
has been reported anecdotally to have some beneficial effect and positive effects of folinic acid for
low folate levels has been reported.

7. Reye Syndrome:

This encephalopathy, which has become uncommon, is associated with pathologic features
characterized by fatty degeneration of the viscera (microvesicular steatosis) and mitochondrial
abnormalities and biochemical features consistent with a disturbance of mitochondrial metabolism.

23. DMD:

Definition: The term dystrophy means abnormal growth, derived from the Greek trophe,
meaning “nourishment.”

A muscular dystrophy is distinguished from all other neuromuscular diseases by four obligatory
criteria: It is a primary myopathy, it has a genetic basis, the course is progressive, and degeneration
and death of muscle fibers occur at some stage in the disease.

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease
affecting all races and ethnic groups. This disease is inherited as an X-linked recessive trait.

Its characteristic clinical features are progressive weakness, intellectual impairment, hypertrophy of
the calves, and proliferation of connective tissue in muscle.

Clinical Manifestations:

1. Infant boys are only rarely symptomatic at birth or in early infancy.

2. Poor head control in infancy may be the first sign of weakness.
3. Distinctive facies are not an early feature because facial muscle weakness is a late event; in
later childhood, a “transverse” or horizontal smile may be seen.
4. Walking is often accomplished at the normal age of about 12 mo, but hip girdle weakness
may be seen in subtle form as early as the 2nd year. Toddlers might assume a lordotic
posture when standing to compensate for gluteal weakness. Scoliosis often becomes rapidly
progressive after confinement to a wheelchair.
5. An early Gowers sign is often evident by age 3 yr and is fully expressed by age 5 or 6 yr. A
Trendelenburg gait, or hip waddle, appears at this time.
6. Common presentations in toddlers include delayed walking, falling, toe walking and trouble
running or walking upstairs, developmental delay, and, less often, malignant hyperthermia
after anesthesia.
7. Respiratory muscle involvement is expressed as a weak and ineffective cough, frequent
pulmonary infections, and decreasing respiratory reserve. The thoracic deformity further

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 compromises pulmonary capacity and compresses the heart.
8. Pharyngeal weakness can lead to episodes of aspiration, nasal regurgitation of liquids, and
an airy or nasal voice quality.
9. The function of the extraocular muscles remains well preserved. Incontinence due to anal and
urethral sphincter weakness is an uncommon and very late event.
10. Contractures most often involve the ankles, knees, hips, and elbows.
11. Enlargement of the calves (pseudohypertrophy) and wasting of thigh muscles are classic
features. After the calves, the next most common site of muscular hypertrophy is the tongue,
followed by muscles of the forearm. Fasciculations of the tongue do not occur.
12. Cardiomyopathy, including persistent tachycardia and myocardial failure, is seen in 50-80%
of patients with this disease.
13. Intellectual impairment occurs in all patients, although only 20-30% have an IQ <70.
14. Epilepsy is slightly more common than in the general pediatric population.
15. Death occurs usually at about 18-20 yr of age. The causes of death are respiratory failure in
sleep, intractable heart failure, pneumonia, or occasionally aspiration and airway obstruction.

Laboratory Findings:

1. The serum CK level is consistently greatly elevated in DMD, even in presymptomatic stages,
including at birth.
2. Cardiac assessment by echocardiography, electrocardiography (ECG), and radiography of the
chest is essential and should be repeated periodically.
3. Electromyography (EMG) shows characteristic myopathic features but is not specific for
DMD. No evidence of denervation is found. Motor and sensory nerve conduction velocities
are normal.

Diagnosis:

1. Polymerase chain reaction (PCR) for the dystrophin gene mutation is the primary test, if the
clinical features and serum CK are consistent with the diagnosis.
2. If the blood PCR is diagnostic, muscle biopsy may be deferred, but if it is normal and clinical
suspicion is high, the more specific dystrophin immunocytochemistry performed on muscle
biopsy sections detects the 30% of cases that do not show a PCR abnormality.
3. The muscle biopsy is diagnostic and shows endomysial connective tissue proliferation,
scattered degenerating and regenerating myofibers.

Genetic Etiology and Pathogenesis:

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Despite the X-linked recessive inheritance in DMD, about 30% of cases are new mutations, and the
mother is not a carrier. Symptomatic girls are explained by the Lyon hypothesis in which the normal
X chromosome becomes inactivated and the one with the gene deletion is active. The asymptomatic
carrier state of DMD is associated with elevated serum CK values in 80% of cases. The level of
increase is usually in the magnitude of hundreds or a few thousand but does not have the extreme
values noted in affected males.

A 427-kd cytoskeletal protein known as dystrophin is encoded by the gene at the Xp21.2 locus.

The molecular defects in the dystrophinopathies vary and include intragenic deletions, duplications,
or point mutations of nucleotides.

Analysis of the dystrophin protein requires a muscle biopsy and is demonstrated by Western blot
analysis or in tissue sections by immunohistochemical methods using either fluorescence or light
microscopy of antidystrophin antisera. In classic DMD, levels of <3% of normal are found.

Prenatal diagnosis is possible as early as the 12th wk of gestation by sampling chorionic villi for
DNA analysis by Southern blot or PCR and is confirmed in aborted fetuses with DMD by
immunohistochemistry for dystrophin in muscle.

Treatment:

1. There is neither a medical cure for this disease nor a method of slowing its progression. Much
can be done to treat complications and to improve the quality of life of affected children.
2. Cardiac decompensation often responds initially well to digoxin.
3. Pulmonary infections should be promptly treated. Patients should avoid contact with
children who have obvious respiratory or other contagious illnesses. Immunizations for
influenza virus and other routine vaccinations are indicated.
4. Preservation of a good nutritional state is important. Adequate calcium intake is important
to minimize osteoporosis in boys confined to a wheelchair.
5. Physiotherapy delays but does not always prevent contractures. Excessive exercise can
actually accelerate the process of muscle fiber degeneration.
6. Other treatment of patients with DMD involves the use of prednisone, prednisolone,
deflazacort, or other steroids.
7. Research areas: Another potential treatment still under investigation is the intramuscular
injection of antisense oligonucleotide drugs that induce exon skipping during mRNA
splicing to restore the open reading frame in the DMD gene.
8. Stem cell implantation or activation in muscle was theoretically plausible but has not

92
 proved practical.

24. Aseptic meningitis:

Viruses BACTERIA Bacterial Fungi Parasites
Entero viruses Parameningeal Strongyloides
Arboviruses M. tuberculosis Focus Coccidiomycosis Toxocara canis
EBV Leptospirosis Blastomycosis Taenia solium
CMV Rickettsia Sinusitis Cyptococcosis Schistosoma
Varicella-zoster rickettsii Mastoiditis Histoplasmosis Acanthamoeba
Measles M. pneumoniae Brain abscess Candida Naegleria fowleri
Mumps C. pneumoniae Subdural
rubella empyema
Cranial
osteomyelitis
Post infectious Systemic Malignancy Drugs Miscellaneous
Intrathecal
Vaccines: rabies, Endocarditis Leukemia infections Post migrane state
influenza, measles Kawasaki disease Lymphoma NSAIDS Post ictal state
SLE CNS tumours OKT3 monoclonal
Rheumatoid antibodies
artritis IvIg

Determining the specific cause of CNS infection is facilitated by careful examination of the CSF with

1. specific stains Kinyoun carbol fuchsin for mycobacteria, India ink for fungi,
2. cytology
3. antigen detection (Cryptococcus)
4. serology (syphilis, West Nile virus, arboviruses)
5. viral culture (enterovirus)
6. polymerase chain reaction (herpes simplex, enterovirus, and others).
7. Other potentially valuable diagnostic tests include blood cultures, CT or MRI of the brain,
serologic tests, and, rarely, brain biopsy.

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CLASSIFICATION OF ENCEPHALITIS BY CAUSE AND SOURCE

I INFECTIONS: VIRAL
A Spread: person to person only
1 Mumps, Measles Enteroviruses Rubella Herpesvirus group Pox group

2 : Parvovirus Influenza A and B Adenovirus

3 : Other: reoviruses, respiratory syncytial, parainfluenza, hepatitis B

B Arthropod-borneagents
Arboviruses: spread to humans by mosquitoes or ticks
Dengue
West Nile

C Spread by warm-blooded mammals Rabies:

94
II INFECTIONS: NONVIRAL
A Rickettsial: in Rocky Mountain spotted fever and typhus
B Mycoplasma pneumoniae:
C Bacterial: tuberculous and other bacterial meningitis;
D Spirochetal: syphilis, congenital or acquired; leptospirosis; Lyme disease
E Fungal: immunologically compromised patients at special risk: cryptococcosis;
histoplasmosis; aspergillosis; mucormycosis; candidosis; coccidioidomycosis
F Protozoal: Plasmodium, Trypanosoma, Naegleria, and Acanthamoeba species;
Toxoplasma gondii
G Metazoal: trichinosis; echinococcosis; cysticercosis; schistosomiasis

III PARAINFECTIOUS: POSTINFECTIOUS, ALLERGIC, AUTOIMMUNE

A Associated with specific diseases (these agents may also cause direct CNS damage; see I and II
Measles Rickettsial infections Influenza A and B
Rubella Mumps Varicella-zoster Mycoplasma pneumoniae

B Associated with vaccines

Rabies Measles

Vaccinia Yellow fever

C Autoimmune
Paraneoplastic
Idiopathic

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 IV HUMAN SLOW-VIRUS DISEASES
A Subacute sclerosing panencephalitis; measles; rubella?
B Creutzfeldt-Jakob disease (spongiform encephalopathy)
C Progressive multifocal leukoencephalopathy
D Human immunodeficiency virus

V UNKNOWN: COMPLEX GROUP.

32. Neurodegenerative Disorders of Childhood:

Neurodegenerative disorders of childhood encompass a large, heterogeneous group of diseases that

result from specific genetic and biochemical defects, chronic viral infections, and varied unknown
causes.

The hallmark of a neurodegenerative disease is regression and progressive deterioration of

neurologic function.

Upper motor neuron signs and progressive spasticity are the hallmarks of white matter disorders;

Convulsions, intellectual, and early visual impairment are the hallmarks of grey matter disorders.

NEUROMETABOLIC CONDITIONS ASSOCIATED WITH DEVELOPMENTAL

REGRESSION
AGE AT
CONDITIONS COMMENTS
ONSET (yr)
Vomiting, hypoglycemia, poor feeding,
Fructose intolerance
failure to thrive (when given fructose)
Lethargy, hypotonia, icterus, cataract,
Galactosemia
hypoglycemia (when given lactose)
<2, with Glycogenosis (glycogen storage
Hypoglycemia, cardiomegaly (type II)
hepatomegaly disease) types I-IV
Mucopolysaccharidosis types I and
Coarse facies, stiff joints
II
Niemann-Pick disease, infantile
Gray matter disease, failure to thrive
type

96
AGE AT
CONDITIONS COMMENTS
ONSET (yr)
Seizures, cherry red macula, edema,
Tay-Sachs disease
coarse facies
Zellweger syndrome Hypotonia, high forehead, flat facies
Gaucher disease (neuronopathic
Extensor posturing, irritability
form)
Irritability, extensor posturing, optic
Krabbe disease
atrophy and blindness
Girls with deceleration of head growth,
Rett syndrome loss of hand skills, hand wringing,
<2, without impaired language skills, gait apraxia
hepatomegaly Poor feeding, tremors, myoclonus,
Maple syrup urine disease
opisthotonos
Phenylketonuria Light pigmentation, eczema, seizures
MRK Likes
MPC Hypertonia, irritability, seizures,
Menkes kinky hair disease
abnormal hair
Subacute necrotizing
White matter disease
encephalopathy of Leigh
Canavan disease White matter disease, Macrocephaly
Niemann-Pick disease types III and
Hepatosplenomegaly, gait difficulty
IV
Liver disease, Kayser-Fleischer ring;
Wilson disease
deterioration of cognition is late
Gangliosidosis type II Gray matter disease
Neuronal ceroid lipofuscinosis Gray matter disease
Mitochondrial encephalopathies
2-5 (e.g., myoclonic epilepsy with Gray matter disease
ragged red fibers [MERRF])
Ataxia-telangiectasia Basal ganglia disease
Huntington disease (chorea) Basal ganglia disease
Metachromatic leukodystrophy White matter disease
White matter disease, behavior
Adrenoleukodystrophy problems, deteriorating school
performance, quadriparesis
Same as for adrenoleukodystrophy in 2
Adrenoleukodystrophy
to 5 yr olds
Multiple sclerosis White matter disease
Neuronal ceroid lipofuscinosis,
5-15 juvenile and adult (Spielmeyer-Vogt Gray matter disease
and Kufs disease)
Peripheral neuropathy, ataxia, retinitis
Refsum disease
pigmentosa
Subacute sclerosing panencephalitis Diffuse encephalopathy, myoclonus;
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AGE AT
CONDITIONS COMMENTS
ONSET (yr)
may occur years after measles

Metachromatic Leukodystrophy (MLD)

This disorder of myelin metabolism is inherited as an autosomal recessive trait and is characterized
by a deficiency of arylsulfatase A (ARSA) activity. The absence or deficiency of arylsulfatase A
leads to accumulation of cerebroside sulfate within the myelin sheath of the central nervous system
(CNS) and peripheral nervous system.

Late infantile MLD begins with insidious onset of gait disturbances between 1 and 2 yr of age. The
child initially appears awkward and frequently falls, but locomotion is gradually impaired
significantly and support is required in order to walk. The extremities are hypotonic, and the deep
tendon reflexes are absent or diminished. Within the next several months, the child can no longer
stand, and deterioration in intellectual function becomes apparent. Visual fixation is diminished,
nystagmus is present, and examination of the retina shows optic atrophy. Feeding and swallowing
are impaired due to pseudobulbar palsies, and a feeding gastrostomy is required. Patients ultimately
become stuporous and die of aspiration or bronchopneumonia by age 5-6 yr.

Investigations:

1. Neurophysiologic evaluation shows slowing of peripheral nerve conduction velocities (NCVs) and
progressive changes in the VEPs, ABRs, and somatosensory-evoked potentials (SSEPs).

2. CT and MRI images of the brain indicate diffuse symmetric attenuation of the cerebellar and
cerebral white matter.

3. Examination of the CSF shows an elevated protein content.

4. Cresyl violet applied to tissue specimens produces metachromatic staining of the sulfatide
granules, giving the disease its name.

Treatment: Bone marrow transplantation is a promising experimental therapy.

Prenatal diagnosis of MLD is made by assaying of ARSA activity in chorionic villi or cultured
amniotic fluid cells.

Juvenile MLD has many features in common with late infantile MLD, but the onset of symptoms is
delayed to 5-10 yr of age. Deterioration in school performance and alterations in personality may
herald the onset of the disease. In the terminal stages, generalized tonic-clonic convulsions are
prominent and are difficult to control. Patients rarely live beyond mid-adolescence.

Adult MLD occurs from the 2nd to 6th decade. Abnormalities in memory, psychiatric disturbances,
and personality changes are prominent features.

Adrenoleukodystrophy:

The adrenoleukodystrophies consist of a group of CNS degenerative disorders that are often
associated with adrenal cortical insufficiency and are inherited by X-linked recessive transmission.
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Classic adrenoleukodystrophy (ALD), also called cerebral ALD (CERALD) is considered to be the
most common leukodystrophy.
Boys present between 5 and 15 yr of age with evidence of academic difficulties, behavioral
disturbances, and gait abnormalities.
ALD is caused by accumulation of very long chain fatty acids in neural tissue and adrenals due to
mutations in the ABCD1 gene coding for the ALD protein.

CERALD:

Clinical features: Generalized seizures are common in the early stages. Upper motor
neuron signs include spastic quadriparesis and contractures, ataxia, and marked swallowing
disturbances secondary to pseudobulbar palsy. Adrenal insufficiency characterized by abnormal
skin pigmentation (tanning without exposure to sun) may precede the onset of neurologic symptoms.
Death occurs within 10 yr of the onset of the neurologic signs.

Investigations: CT scans and MRI studies of patients indicate periventricular

demyelination beginning posteriorly. ABRs, VEPs, and SSEPs may be normal initially but
ultimately show prolonged latencies and abnormal waveforms.

Treatment: Lorenzo's oil (LO), a mixture of glyceryl trioleate and glyceryl trierucate,
lowers very long chain fatty acid (VLCFA) levels by inhibiting synthesis. LO may be effective in
slowing onset of cerebral disease when given to asymptomatic boys with no clinical or MRI findings.
Bone marrow transplant can prevent the progression of the disease when done at an early stage
before clinical signs develop.

Adrenomyeloneuropathy and Neonatal ALD are the other varieties in ALD.

Investigation for neurodegenerative conditions in school-age children :

 Blood
o Liver function tests
o Copper, ceruloplasmin
o Lactate
o Amino acids
o Very long chain fatty acids
o Immunoglobulin’s
o Thyroid function tests
o Autoantibodies, including antinuclear antibodies
o White cell enzymes (targeted for conditions being considered)
o Appropriate genetic tests, esp. DNA studies for specific disorders
 Urine
o Amino acids/organic acids
o Renal epithelial
o Metachromatic granules
 CSF
o Immunoglobulin’s
o Electrophoresis
99
 o Cells (cytospin)
o Measles IgG
o Lactate
o Neurotransmitters
 Neurophysiology
o EEG
o ERG
o VEP
 Neuroimaging : CT scan, MRI

Differentiating features White Matter disease Gray matter disease

1 Age of onset Usually late Early
2 Head size May have Megalencephaly Usually Microcephaly
3 Seizures Late,rare Early ,Severe
4 Cognitive function Initially normal Progressive dementia
5 Peripheral neuropathy Early demyelination Late, Axonal loss
6 Spasticity Early severe Late,Progressive
7 Reflexes Absent(Neuropathy) Normal or Exaggarated
Exaggerated(Long tracts)
8 Cerebellar signs Early prominent Late

9 Fundus examination May show optic atrophy Retinal degeneration

10 EEG Diffuse Delta slowing Epileptiform discharges

11 EMG Slowing nerve conduction Usually normal

velocity
12 Evoked potentials(VEP,ABR) Prolonged / Absent Usually normal

13 ERG normal abnormal

Childhood epileptic syndromes with good prognosis:

1. Benign neonatal familial convulsions

2. Infantile familial convulsions
3. Febrile convulsions plus syndromes
4. Benign myoclonic epilepsy of infancy
5. Juvenile myoclonic epilepsy
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 6. Partial idiopathic epilepsy with rolandic spikes
7. Idiopathic occipital partial epilepsy
8. Petit mal absence epilepsy

Absence Seizures:

Age: Typical absence seizures usually start at 5-8 yr of age and are often overlooked by parents for
many months even though they can occur up to hundreds of times per day.

Clinical features: Unlike complex partial seizures they do not have an aura, usually last for only a
few seconds, and are accompanied by flutter or upward rolling of the (absence seizures can have
simple automatisms like lip-smacking or picking at clothing and the head can minimally fall
forward).

Absence seizures do not have a postictal period and are characterized by immediate resumption of
what the patient was doing before the seizure.

Hyperventilation for 3-5 min can precipitate the seizures.

EEG findings: 3 Hz spike–and–slow wave discharges.

DOC- ethosuximide, valproate.

Atypical absence seizures have associated myoclonic components and tone changes of the head and
body and are also usually more difficult to treat. They are precipitated by drowsiness and are usually
accompanied by 1-2 Hz spike–and–slow wave discharges.

Juvenile absence seizures are similar to typical absences but occur at a later age and are
accompanied by 4-6 Hz spike–and–slow wave and polyspike–and–slow wave discharges.

Mechanisms of Seizures:

One can distinguish in the pathophysiology of epilepsy four distinct, often sequential, mechanistic
processes.

1. First is the underlying etiology, which is any process that can disrupt neuronal function and
connectivity and that eventually leads to the process of making the brain epileptic (epileptogenesis).

The underlying etiologies of epilepsy are diverse and include, among other things, brain tumors,
strokes, scarring, or mutations of specific genes. In many other epileptic conditions, a clear
etiology is still lacking and in others the etiology may be known, but it is still not known how the
identified underlying genetic etiology or brain insult results in epilepsy.

2. Second, epileptogenesis is the mechanism during which the brain turns epileptic. Kindling is an
animal model for human temporal lobe epilepsy in which repeated electrical stimulation of selected
areas of the brain with a low-intensity current initially causes no apparent changes but with repeated
stimulation results in epilepsy. Mossy fibers are shown to underlie increased excitability in medial
temporal lobe epilepsy resulting from mesial temporal sclerosis in humans and in animal models.

3. The third process is the resultant epileptic state of increased excitability that is present in all
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patients irrespective of the underlying etiology or mechanism of epileptogenesis.

4. The fourth process is seizure-related neuronal injury as demonstrated by MRI in patients after
prolonged febrile and afebrile status epilepticus. Many such patients show acute swelling in the
hippocampus and long-term hippocampal atrophy with sclerosis on MRI.

Infantile spasms (west syndrome):

Age- 4 mon to 8 mon

Types:

Flexor- occurs in clusters, salam attack

Extensor – least common

Mixed- Mc type

Infantile spasms grouped into 2

Crytogenic: only 10%, antenatal, natal, post natal, dev h/o, development h/o, imaging all are normal

Symptomatic: triad of infantile spasms, hypsarrthymias, psychomotor retardation.ususally associated

with malformation of brain, neurocutaneous syndromes and chromosomal anomalies.

Pathogenesis:

CRH a putative neurotransmitter

CRH acts on ant pituitary to release ACTH

ACTH suppresses the metabolism and secretion of CRH by negative feed back mechanism

Any prenatal/ perinatal/ post natal insult results in loss of negative feed back mechanisms

Leading to increased CRH

Neuronal hyperexcitability and seizures

EEG: hypsarrthymias

Treatment: ACTH,prednisolone, pyridoxine, vigabatrin , IVIG and sodium valproate.

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An approach to the child with a suspected convulsive disorder.

103
 CVS
1. SVT
2. PULMONARY VASCULAR DISEASE (EISENMENGER SYNDROME)
3. PDA- new born notes
4. HYPERTENSION:
5. CLASSIFICATION OF ANTIHYPERTENSIVE DRUGS
6. CLINICAL EVALUATION OF CONFIRMED HYPERTENSION
7. HYPERTENSIVE EMERGENCY:
8. ANTIARRYTHMIC DRUGS: VAUGHAN WILLIAMS CLASSIFICATION
9. Cardiomyopathy
10. Chest pain
11. syncope
12. Cardiac intervention procedures
13. Ccf
14. Levosimendan articles
15. Rheumatic fever
16. Second heart sound - notes
17. Tof/ cyanotic spell
18. Long qt syndrome

SVT:
Supraventricular tachycardia (SVT) is a general term that includes essentially all forms of
paroxysmal or incessant tachycardia except ventricular tachycardia. The category of SVT can be
divided into 3 major subcategories:
1. re-entrant tachycardias using an accessory pathway,
2. re-entrant tachycardias without an accessory pathway, and
3. ectopic or automatic tachycardias.
Atrioventricular reciprocating tachycardia (AVRT) involves an accessory pathway and is the most
common mechanism of SVT in infants.
CAUSES:
 Idiopathic- more common in young infants.
 WPW pre excitation in 10 to 20% of cases.
 Congenital heart diseases: Ebsteins anomaly, single ventricle
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  May occur following cardiac surgeries
Clinical features:
1. Many infants tolerate SVT well.
2. SVT may decrease cardiac output and result in CHF.
3. Clinical features of CHF include irritability, tachypnea, poor feeding and pallor.
4. Older children may complain of chest pain, palpitations, shortness of breath and fatigue.
5. Children with WPW have a small real risk of sudden death.
Investigations:
ECG: In neonates, SVT is usually manifested as a narrow QRS complex (<0.08 sec). AV
reciprocating tachycardia uses a bypass tract that may either be able to conduct bidirectionally
(Wolff-Parkinson-White [WPW] syndrome) or retrograde only (concealed accessory pathway).
For risk stratification 24 hr holter monitoring, exercise study and catheter ablation.

Schematic representation of the heart with a right-sided accessory pathway (Wolff-Parkinson-White

syndrome). The asterisk indicates initiation of the sinus beat. The arrows indicate the direction and
spread of excitation. The electrocardiographic complex shown represents a fusion beat that combines
activation over the normal (n) and accessory (a) pathways. The latter inscribes the delta wave. NSR,
normal sinus rhythm.

Management:

Vagal stimulatory manoeuvres: Vagal stimulation by placing of the face in ice water (in older
children) or by placing an ice bag over the face (in infants) may abort the attack. To terminate the
attack, older children may be taught vagal maneuvers such as the Valsalva maneuver, straining,
breath holding, or standing on their head.

Drugs:

1. Adenosine is considered the drug of choice. Other drugs like esmolol, verapamil and digoxin
have been tried. ADENOSINE 0.1 – 0.2 mg/kg rapid push. Adenosine breaks SVT by producing
block at the AV node.

2. Iv Amiodarone for resistant and recurrent SVT.

3. If in severe CHF emergency cardioversion.

4. Transoesophageal pacing.

5. Radiofrequency catheter ablation

6. Surgical interruption of accessory pathways should be considered.

Prevention of recurrence of SVT:

105
1. In infants without WPW pre excitation – propranolol is useful.

2. In infants with WPW pre excitation – digoxin is used

3. Parents should be taught to measure the heart rate in their infants, so that prolonged unapparent
episodes of SVT may be detected before heart failure occurs.

2. Pulmonary Vascular Disease (Eisenmenger Syndrome)

Pathophysiology

The term Eisenmenger syndrome refers to patients with a ventricular septal defect in which blood is
shunted partially or totally from right to left as a result of the development of pulmonary vascular
disease. This physiologic abnormality can also occur with atrioventricular septal defect, ventricular
septal defect, patent ductus arteriosus or any other communication between the aorta and pulmonary
artery.

In Eisenmenger syndrome, pulmonary vascular resistance after birth either remains high or, after
having decreased during early infancy, rises thereafter because of increased shear stress on
pulmonary arterioles.

Factors playing a role in the rapidity of development of pulmonary vascular disease include

 Increased pulmonary arterial pressure,

 Increased pulmonary blood flow, and
 The presence of hypoxia or
 Hypercapnia.

Early in the course of disease, pulmonary hypertension (elevated pressure in the pulmonary arteries)
is the result of markedly increased pulmonary blood flow (hyperkinetic pulmonary hypertension).
This form of pulmonary hypertension decreases with the administration of pulmonary vasodilators
such as nitric oxide, or oxygen, or both.

With the development of Eisenmenger syndrome, pulmonary hypertension is the result of pulmonary
vascular disease (obstructive pathologic changes in the pulmonary vessels). This form of pulmonary
hypertension is usually only minimally responsive to pulmonary vasodilators or oxygen or not at
all.

Histological grading: The pathologic changes of

Eisenmenger syndrome occur in the small pulmonary arterioles and muscular arteries and are graded
on the basis of histologic characteristics (Heath-Edwards classification):

Grade I changes involve medial hypertrophy alone,

grade II consists of medial hypertrophy and intimal hyperplasia,

grade III involves near obliteration of the vessel lumen,

grade IV includes arterial dilatation, and

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 grades V and VI include plexiform lesions, angiomatoid formation, and fibrinoid necrosis.

Grades IV-VI indicate irreversible pulmonary vascular obstructive disease.

Clinical Manifestations:

Symptoms do not usually develop until the 2nd or 3rd decade of life, although a more fulminant
course may occur. Intracardiac or extracardiac communications that would normally shunt from left
to right are converted to right-to-left shunting as pulmonary vascular resistance exceeds systemic
vascular resistance.

Cyanosis becomes apparent, and dyspnea, fatigue, and a tendency toward dysrhythmias begin to
occur. In the late stages of the disease, heart failure, chest pain, headaches, syncope, and
hemoptysis may be seen.

Physical examination reveals a right ventricular heave and a narrowly split 2nd heart sound with a
loud pulmonic component. Palpable pulmonary artery pulsation may be present at the left upper
sternal border.

Diagnosis:

Cyanotic patients have various degrees of polycythemia that depend on the severity and duration of
hypoxemia.

Roentgenographically, the heart varies in size from normal to greatly enlarged. The main
pulmonary artery is generally prominent, similar to primary pulmonary hypertension.

The electrocardiogram shows marked right ventricular hypertrophy. The P wave may be tall and
spiked.

The echocardiogram shows a thick-walled right ventricle and demonstrates the underlying
congenital heart lesion.

Cardiac catheterization usually shows a bidirectional shunt at the site of the defect.
Systolic pressure is generally equal in the systemic and pulmonary circulations.

Treatment:
Medical treatment of Eisenmenger syndrome is primarily symptomatic. Many patients benefit
substantially from either oral (calcium channel blocker, endothelin antagonist, phosphodiesterase
inhibitors) or chronic intravenous (prostacyclin) therapy.

The best management for patients who are at risk for the development of late pulmonary vascular
disease is prevention by early surgical elimination of large intracardiac or great vessel
communications during infancy.

Combined heart-lung or bilateral lung transplantation is the only surgical option for many of
these patients.

HYPERTENSION
DEFINITIONS:
Normal BP: systolic or diastolic BP < 90th percentile for age, sex and height.
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Pre- hypertension: defined as average SBP or DBP that are ≥90th percentile but <95th percentile.
Hypertension: hypertension as average systolic blood pressure (SBP) and/or diastolic blood pressure
(DBP) that is ≥95th percentile for age, sex, and height on ≥3 occasions.
Stage 1 HTN: Children with BP between the 95th and 99th percentile plus 5 mm Hg
Stage 2 HTN: children with BP above the 99th percentile plus 5 mm Hg.
White coat hypertension: A child with BP levels ≥95th percentile in a medical setting but normal BP
outside of the office.
CAUSES OF HTN:
Neonate Infancy to 6 years of age
Renal malformation
Coarctation of aorta Renal parenchymal disease
Renovascular hypertension following Renal artery stenosis
umbilical artery catheterisation Coarctation of aorta
Bronchopulmonary dysplasia

6-10 years of age Adolescent hypertension

Renal parenchymal disease
Renal artery stenosis Renal parenchymal disease
Endocrine causes Essential hypertension
Primary or essential HT

CLINICAL EVALUATION OF CONFIRMED HYPERTENSION (total 14)

STUDY OR PROCEDURE PURPOSE

1. Evaluation for identifiable causes

(4)
History, including sleep history, family
history, risk factors, diet, and habits History and physical examination help focus
such as smoking and drinking alcohol; subsequent evaluation
physical examination

BUN, creatinine, electrolytes,

R/O renal disease and chronic pyelonephritis
urinalysis, and urine culture

CBC R/O anemia, consistent with chronic renal disease

Renal U/S R/O renal scar, congenital anomaly, or disparate renal size

2. Evaluation of co morbid
conditions(3)

Fasting lipid panel, fasting glucose Identify hyperlipidemia, identify metabolic abnormalities

Drug screen Identify substances that might cause hypertension

108
STUDY OR PROCEDURE PURPOSE

1. Evaluation for identifiable causes

(4)

Polysomnography Identify sleep disorder in association with hypertension

3. Evaluation of target organ

damage (2)

Echocardiogram Identify LVH and other indications of cardiac involvement

Retinal exam Identify retinal vascular changes

4. Additional evaluation as
indicated(5)

Identify white coat hypertension,

ABPM (ambulatory BP monitoring)
abnormal diurnal BP pattern

Identify low renin,

Plasma renin determination
suggesting mineralocorticoid-related disease

Renovascular imaging
Isotopic scintigraphy (renal scan)
MRA Identify Renovascular disease
Duplex Doppler flow studies
3-Dimensional CT

Plasma and urine steroid levels Identify steroid-mediated hypertension

Plasma and urine catecholamines Identify catecholamine-mediated hypertension

Treatment:
Non pharmacological:
1. The mainstay of therapy for children with asymptomatic mild hypertension without evidence of
target organ damage is therapeutic lifestyle modification with dietary changes and regular
exercise.
2. Weight loss is the primary therapy in obesity-related hypertension.
3. It is recommended that all hypertensive children have a diet increased in fresh fruits, fresh
vegetables, fiber, and non fat dairy reduced in sodium.
4. In addition, regular aerobic physical activity for at least 30-60 min on most days along with a
reduction of sedentary activities to less than 2 hr per day is recommended.

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Classification of antihypertensive drugs:

1.ACE inhibitors Captopril enalapril lisinopril, Inhibits the action of ACE

perindopril ramipril
2. Angiotensin(AT1) Losartan AT1 antagonists
antagonists
3. CCB Nifedipine, verapamil, diltiazem, Lower the BP by decreasing
amlodine the peripheral vascular
resistance without
compromising the cardiac

110
 output

4. diuretics Thiazide Hydrochlorthiazide Diuresis decreases the t.p.r

High ceiling - Furosemide
K sparing spirinolactone Decreases the c.o by diuresis
5. Beta adrenergic Propranolol atenolol
blockers
6. Beta + alpha adrenergic Labetalol, carvedilol
blockers
7. Alpha adrenergic Prazosin, terazosin phentoloamine, Dilates both resistance and
blockers pheonxybenzamine capacitance vessels
8. Central sympatholytics Clonidine methyl dopa Stimulation of α2 receptors
9. Vasodilators Arteriolar hydralazine
Venodilator nitroglycerine
Arteriolar+ venous sodium
nitroprusside

Hypertensive emergency:

Hypertensive emergency is a Severe, symptomatic hypertension that is often accompanied by cardiac

failure, retinopathy, renal failure, encephalopathy, and seizures.

Intravenous administration is often preferred so that the fall in BP can be carefully titrated. Because
too rapid a reduction in BP may interfere with adequate organ perfusion, a stepwise reduction in
pressure should be planned.

In general, the pressure should be reduced by 10% in the 1st hour, and 15% more in the next 3-12 hr,
but not to normal during the acute phase of treatment.

Hypertensive urgencies, usually accompanied by few serious symptoms such as severe headache or
vomiting, can be treated either orally or intravenously.

ANTIHYPERTENSIVE DRUGS FOR MANAGEMENT OF SEVERE HYPERTENSION

Code (H- LENS)
DRUG CLASS DOSE ROUTE COMMENTS
USEFUL FOR SEVERELY HYPERTENSIVE PATIENTS WITH LIFE-THREATENING
SYMPTOMS
Very short-acting—constant infusion
β-adrenergic 100-500 µg/kg per IV
Esmolol preferred. May cause profound
blocker min infusion
bradycardia
Direct 0.2-0.6 mg/kg per Should be given every 4 hr when
Hydralazine IV, IM
vasodilator dose given IV bolus
Bolus: 0.20-1.0
α- and mg/kg per dose,
IV bolus or Asthma and overt heart failure are
Labetalol β-adrenergic up to 40 mg per
infusion relative contraindications
blocker dose
Infusion: 0.25-3.0
111
DRUG CLASS DOSE ROUTE COMMENTS
mg/kg/hr
Bolus: 30 µg/kg
Calcium
up to 2 mg/dose IV bolus or
Nicardipine channel May cause reflex tachycardia
Infusion: 0.5-4 infusion
blocker
µg/kg per min
Monitor cyanide levels with
Sodium Direct 0.5-10 µg/kg per IV prolonged (>72 hr) use or in renal
nitroprusside vasodilator min infusion failure, or co-administer with sodium
thiosulfate

Antiarrythmic drugs: VAUGHAN WILLIAMS Classification

Clas Action Drugs

s
1 Membrane stabilising agents (Na channel blockers)

A Moderately decrease dv/dt of 0 phase Quinidine, procainamide, disopyramide

B Little decrease in dv/dt of 0 phase Lidociane, mexiletine, tocainide
C Marked decrease in dv/dt of 0 phase flecainide, encainide, Propafenone

2 Anti adrenergic drugs ( β blockers) Propranolol, esmolol, sotalol, acebutalol

3 Agents widening AP (prolong repolarization) Amiodarone, bretylium, ibutilide
(k channel blockers)
4 CCB Verapamil, diltiazem, bepridil

Amiodarone: class 3 drug, iodine containing highly lipophilic

Uses 1. Ventricular and supra ventricular arrhythmias 2. WPW

syndrome

Interactions can increase the level of digoxin and warfarin by decreasing their renal
clearance.

Adverse effects: Dose related and increases with the duration of the therapy.

General nausea, vomiting

Eye corneal opacities - reversible on stopping the drug

Skin photosensitivity and depigmentation

Endocrine interferes with thyroid functions – goiter, hypothyroidism and rarely hyper

Resp pulmonary alveolitis and fibrosis is the most serious toxicity

Cns peripheral neuropathy

112
 Cardiomyopathy
Dilated Hypertrophic Restrictive
Overview ↑ Ventricular size, Hypertrophied LV and/or Myocardial fibrosis with
↓contractility (systolic RV, commonly asymmetric stiff ventricular walls and
dysfunction), MR is septal hypertrophy and impaired diastolic filling
common LVOT obstruction, stiff LV (diastolic dysfunction),
(diastolic dysfunction) atrial enlargement
Prevalence 55% 35% 5%
Etiology Primarily idiopathic, 30% AD inheritance in 50% due Myocardial fibrosis,
familial, can occur post to sarcomere mutations, hypertrophy or infiltration
myocarditis, secondary to others with sporadic (amyloidosis, sarcoidosis,
toxins/meds (doxorubicin) mutations mucopolysaccharidosis)
or metabolic disturbances
Clinical Signs and symptoms ofVaries—can be Exercise intolerance, chest
manifestationsCHF, S3 gallop, murmur
asymptomatic, dizziness, pain, dyspnea, JVD, gallop
of MR palpitations, syncope, chest
pain, sudden death, S4
gallop, SEM due to LVOT
obstruction
CXR—cardiomegaly, CXR—LV enlargement, CXR—cardiomegaly,
pulmonary congestion globular-shaped heart pulmonary congestion
EKG—tachycardia, LVH, EKG—LVH, deep Q waves, EKG—atrial hypertrophy,
ST-T waves changes ST-T wave changes atrial arrhythmias
Diagnosis
Echocardiogram—bivent Echocardiogram—thickene Echocardiogram—biatrial
ricular dilatation, atrial d LV (± RV) wall, small LV enlargement, normal
enlargement, poor chamber size, ↑ LV ventricular volume and
ventricular function, apical contractility function, atrial thrombus
thrombus
Treatment CHF treatment—diuretics,  Activity restriction  Diuretics
ACE-I, β -blockers  β-Blockers and CCB (congestive
 Anticoagulation to improve symptoms)
 Antiarrhythmic ventricular filling  CCB(increased
 ± ICD  Antiarrhythmic diastolicc
 Cardiac transplant  ICD placement compliance)
 Myomectomy  Anticoagulants
 Cardiac transplant

Digoxin and diuretics are

contraindicated
Prognosis Progressive; 50% of Variable from asymptomatic Poor; 5–year survival rate is
patients die within 5 years to progressive symptoms. <30%
of diagnosis Sudden death in 5% of
patients per year (secondary
to arrhythmias), 10%–20%
develop DCM

113
 Chest pain is a common complaint in children that usually has a benign etiology and is only rarely
associated with underlying cardiac disease.

Etiologies of Cardiac Chest Pain and Associated Clinical Manifestations sitaacc

Cardiac Causes Associated Signs and Symptoms Examination Findings
Severe obstructive Pain associated with exercise, and is often Loud harsh systolic murmur
lesions (aortic or recurrent. Anginal pain may be present
pulmonary stenosis)
Cardiomyopathy Pain may be ischemic or arrhythmic in Normal or SEM
origin. Syncope or palpitations may also be
present.
Coronary artery History of Kawasaki disease, pain with Normal, possible gallop, or SEM
disease (anomalous intense physical activity, anginal pain, of mitral insufficiency
origin, vasospasm) diaphoresis, nausea, dyspnea, syncope
Aortic dissection or Severe tearing pain with radiation to the Stigmata of associated syndrome
aneurysm back. Patients with Marfan syndrome,
Turner syndrome, and Noonan's syndromes
are at risk.
Inflammatory Sharp, stabbing precordial pain, improved Pericardial friction rub,
(pericarditis, with upright position or leaning forward, tachycardia, muffled heart sounds
myocarditis) signs of tamponade, evidence of fever, or
recent illness
Arrhythmias Sensation of “heart pounding,” palpitations, Tachycardia, irregular rhythm
syncope, abrupt onset, and termination
Toxins (cocaine, Social history of use or abuse, anginal pain, Tachycardia, hypertension
methamphetamines, possible palpitations related to arrhythmia,
sympathomimetic may present similar to coronary artery
decongestants) disease
SEM, systolic ejection murmur
Noncardiac Chest Pain crpgm
Examination
Causes Associated Signs and Symptoms Findings Treatment
Costochondritis Anterior chest pain, usually unilateral Reproducible pain Rest, NSAIDs or
with tenderness at the costochondral with palpation acetaminophen
joint. May follow respiratory illnesses or
physical activity.
Musculoskeletal Secondary to stain of chest wall muscles Tenderness of the Rest, NSAIDs or
(related to exercise or coughing) or chest wall, signs of acetaminophen
trauma. trauma (bruises)
Respiratory Chest tightness or pain may occur with Tachypnea, crackles, Asthma—inhaled
(Exercise-induced exercise induced bronchospasm. Other wheezing, or β-agonists;
asthma, pneumonia, complaints include shortness of breath, increased work of pneumonia and
bronchitis) decreased exercise tolerance, or cough. breathing. Fever with bronchitis—appr
pneumonia. opriate
antimicrobial
therapy
114
Psychogenic More common in children older than 12 Normal or Reassurance,
years and girls. Often related to anxiety nonspecific address life
or stressful events. Vague associated stressors
somatic complaints include headache
and abdominal pain.
Gastrointestinal Burning substernal pain, relief or Epigastric tenderness Antacids,
(GER, esophageal exacerbation with eating, worse when in hydrogen ion
spasm, foreign supine position inhibitors, or
body, or ingestion) proton pump
inhibitors.
GER, gastroesophageal reflux; NSAID, nonsteroidal anti-inflammatory drugs.

Etiologies of Syncope and Associated Clinical Manifestations (2+4+2+2 = 10)

Differential Diagnosis Clinical Manifestations

Autonomic (2) Orthostatic Vasovagal syncopeProdrome of dizziness, lightheadedness, nausea,
Intolerance pallor, palpitations, visual changes, headache,
and shortness of breath.
May be precipitated by acute illness or noxious
stimuli (pain, fear).
Heart rate and blood pressure drop acutely with
symptoms.

Orthostatic ≥20/10 mmHg drop in blood pressure after

hypotension assuming an upright position Lightheadedness
without extensive prodrome
Exacerbated by dehydration and prolonged bed
rest.

Postural Orthostatic symptoms (fatigue, lightheadedness,

orthostatic recurrent near syncope) associated with 30 bpm
tachycardia increase in heart rate with upright positioning.
syndrome (POTS) Associated with chronic fatigue syndrome.

Related to breathholding spells, cough,

Situational syncope micturition, defecation.

Suggested by occurrence of events in a supine

Arrhythmias (SVT, VT) or sitting position, can be provoked by exercise.

Cardiac (2) obstructive lesions (AS, PS, May be accompanied by chest pain or
HCM) palpitations.
Myocardial dysfunction
(Coronary artery anomalies,
Kawasaki disease)

115
 Unnoticed apprehension and deep sighing
Hyperventilation respirations
Associated with emotional disturbances
Reproducible with intentional hyperventilation

Seizure Unusual eye or limb movements

Neuropsychiat Postictal confusion
ric (4) Prolonged duration of unconsciousness (>1
minute)

Migraine Headache, nausea, vomiting, photophobia, relief

by sleep
Hysteria Prolonged episode occurring only in the
presence of others; rare before age 10 years
Hypoglycemia Symptoms may include pallor, perspiration,
lightheadedness; duration of onset and recovery
are gradual
Metabolic(2)
Electrolyte disturbances Varied dependant on the underlying etiology

Cardiac intervention procedures:

These procedures can

1. open the things that are closed

2. widen the things that are too small

3. close things that are open.

A) Balloon and blade atrial septostomy:

In balloon atrial septostomy, a special balloon tipped catheter is placed in LA from the RA through a
patent foramen ovale or an existing ASD. The balloon is inflated with diluted contrast material, and
the catheter is rapidly pulled back to the RA, thereby creating a large opening in the atrial septum.
In infants older than 6 to 8 weeks, the atrial septum may be too thick to allow an effective balloon
septostomy, in such cases blade atrial septostomy can be used.

B) Balloon valvuloplasty: The balloons used in

these interventional procedures are made of plastic polymers and retain their predetermined
diameters. A long guide wire is advanced far beyond the valve of interest, and the balloon catheter is
placed over the wire. The balloon is then inflated with contrast material to relieve obstruction at the
valve.

Used in Pulmonary valve stenosis, aortic valve stenosis, mitral stenosis and stenosis of prosthetic
conduits.

C) Balloon angioplasty: Appropriate guide wires are placed

116
beyond the point of narrowing, and the balloon catheter is placed over the guide wires. The mid
portion of the balloon is positioned at the point of narrowing, and the balloon is inflated with diluted
contrast material to relieve the narrowing of vascular structures. Following balloon procedure, some
blood vessels recoil and do not maintain the dilated caliber of the vessel. Endovascular stents are
used to maintain vessel patency in such cases.

Used in recoarctation of aorta, native COA, branched pulmonary artery stenosis and systemic artery
stenosis.

D) Closure techniques: Various procedures have been used for

nonsurgical closure of ASD, patent ductus arteriosus, and muscular VSD. The nonsurgical devices
( like amplatzer device and, occlusion coils) have the advantage of a short life stay, rapid recovery
and no surgical scar.

117
 ENDOCRINE
1. Pituitary hormones
2. functions of adrenal hormones
3. thyroid hormone
4. PCOD
5.
6.
7.
8.
9.
10.

Pituitary hormones:

The pituitary's central role in this hormonal system and its ability to interpret and respond to a
variety of signals has led to its designation as the “master gland.” The pituitary gland is
connected to the hypothalamus by the pituitary stalk. The pituitary gland is composed of an
anterior (adenohypophysis) and a posterior (neurohypophysis) lobe.
I. Anterior pituitary hormones:

Five cell types in the anterior pituitary produce 6 peptide hormones.

1. Somatotropes produce growth hormone (GH),

2. lactotropes produce prolactin (PRL),

3. thyrotropes make thyroid-stimulating hormone (TSH),

4. corticotropes express pro-opiomelanocortin (POMC), the precursor of adrenocorticotropic

hormone (ACTH), and

5. gonadotropes express luteinizing hormone (LH) and follicle-stimulating hormone (FSH).

1. Growth Hormone:

GH is secreted in a pulsatile fashion under the regulation of hypothalamic hormones. The

alternating secretion of growth hormone–releasing hormone (GHRH), which stimulates GH
release, and somatostatin, which inhibits GH release, accounts for the rhythmic secretion of GH.
Sleep, exercise, physical stress, trauma, acute illness, puberty, fasting, ghrelin, and
hypoglycemia stimulate the release of GH whereas hyperglycemia, hypothyroidism, and
glucocorticoids inhibit GH release.

The biological effects of GH include increases in linear growth, bone thickness, soft tissue
growth, protein synthesis, fatty acid release from adipose tissue, insulin resistance, and blood
glucose. The mitogenic actions of GH are mediated through increases in the synthesis of
insulin-like growth factor-1 (IGF-1).

2. Prolactin:

118
PRL is a 199-amino-acid peptide made in pituitary lactotropes. Dopamine antagonists, states of
primary hypothyroidism, administration of thyrotropin-releasing hormone (TRH), and pituitary
tumors result in increased serum levels of PRL. Dopamine agonists and processes causing
destruction of the pituitary cause reduced levels of PRL.

The primary physiologic role for PRL is the initiation and maintenance of lactation. PRL
prepares the breasts for lactation and stimulates milk production postpartum.

3. Thyroid-Stimulating Hormone:

TSH consists of 2 glycoprotein chains (α, β) linked by hydrogen bonding; the α-subunit, which
is composed of 89 amino acids and is identical to other glycoproteins (FSH, LH, and human
chorionic gonadotropin [hCG]), and the β-subunit, composed of 112 amino acids, that is
specific for TSH.

TSH is stored in secretory granules and released into circulation primarily in response to
thyrotropin-releasing hormone (TRH), which is produced by the hypothalamus. TSH stimulates
release of thyroxine (T4) and triiodothyronine (T3) from the thyroid gland. In addition to the
negative feedback inhibition by T3, the release of TRH and TSH are inhibited by dopamine,
somatostatin, and glucocorticoids.

4. Adrenocorticotropic Hormone:

ACTH is a 39-amino-acid single-chain peptide that is derived by proteolytic cleavage from

POMC.

Secretion of ACTH is regulated by corticotropin-releasing hormone (CRH). ACTH is

secreted in a diurnal pattern. It acts on the adrenal cortex to stimulate cortisol synthesis and
secretion. ACTH and cortisol levels are highest in the morning at the time of waking, are low
in the late afternoon and evening, and reach their nadir an hour or two after beginning sleep.
ACTH also appears to be the principal pigmentary hormone in humans. Physiologic
conditions such as stress, fasting, and hypoglycemia also stimulate release of CRH and ACTH.

119
 5. Luteinizing Hormone and Follicle-Stimulating Hormone:

Gonadotropic hormones include two glycoproteins, LH and FSH. Receptors for FSH on the
ovarian Granulosa cells and on testicular Sertoli cells mediate FSH stimulation of follicular
development in the ovary and of gametogenesis in the testis. On binding to specific receptors
on ovarian theca cells and testicular Leydig cells, LH promotes luteinization of the ovary
and Leydig cell function of the testis.

Secretion of LH is inhibited by androgens and estrogens, and secretion of FSH is suppressed

by gonadal production of inhibin, produced by the Sertoli cells.

II. Posterior Pituitary hormones:

The posterior lobe of the pituitary is part of a functional unit, the neurohypophysis, that consists
of the neurons of the supraoptic and paraventricular nuclei of the hypothalamus.
Arginine vasopressin (AVP; antidiuretic hormone [ADH]) and oxytocin are the 2 hormones
produced by neurosecretion in the hypothalamic nuclei and released from the posterior
pituitary. They are octapeptides and differ by only 2 amino acids.

1. Antidiuretic Hormone:

ADH regulates water conservation at the level of the kidney by increasing the permeability of
the renal collecting duct to water through its interaction with vasopressin 2 receptors in the
collecting duct. ADH has a short half-life and responds quickly to changes in hydration. The
stimuli for its release are increased plasma osmolality, perceived by osmoreceptors in the
hypothalamus, and decreased blood volume, perceived by baroreceptors in the carotid sinus of
the aortic arch.

2. Oxytocin:

Oxytocin stimulates uterine contractions at the time of labor and delivery in response to
distention of the reproductive tract and stimulates smooth muscle contraction in the breast
during suckling, which results in milk letdown.

2. Functions of adrenal hormones:

I. Actions of Glucocorticoids: Glucocorticoids are essential for survival. The term
glucocorticoid refers to the glucose-regulating properties of these hormones. In stress situations,
glucocorticoid secretion can increase up to 10-fold. This increase is believed to enhance survival
through increased cardiac contractility, cardiac output, sensitivity to the pressor effects of
catecholamines and other pressor hormones, work capacity of the skeletal muscles, and capacity to
mobilize energy stores.
A) Metabolic Effects: The primary action of the glucocorticoids on carbohydrate
metabolism is to increase glucose production by increasing hepatic gluconeogenesis.
Glucocorticoids also increase cellular resistance to insulin, thereby decreasing entry of glucose into
the cell. Glucocorticoid excess can cause hyperglycemia, and glucocorticoid deficiency can cause
hypoglycemia.

Glucocorticoids increase free fatty acid levels by enhancing lipolysis, decreasing cellular glucose
uptake, and decreasing glycerol production, which is necessary for re-esterification of fatty acids. In
the patient with glucocorticoid excess, fat is lost in the extremities, but it is increased in the trunk
(centripetal obesity), neck, and face (moon facies).
120
Glucocorticoids generally exert a catabolic or antianabolic effect on protein metabolism.
Proteolysis in fat, skeletal muscle, bone, lymphoid, and connective tissue increases amino acid
substrates that can be used in gluconeogenesis. Cardiac muscle and the diaphragm are almost entirely
spared from this catabolic effect.

B) Circulatory and Renal Effects: Glucocorticoids have a positive inotropic influence on

the heart, increasing the left ventricular work index. In the absence of glucocorticoids, decreased
cardiac output and shock can develop; in states of glucocorticoid excess, hypertension is often
observed.

C) Growth: In excess, glucocorticoids inhibit linear growth and skeletal

maturation in children, apparently through direct effects on the epiphyses. Glucocorticoids are often
given to pregnant women at risk for delivery of premature infants in an effort to accelerate these
maturational processes.

D) Immunologic Effects: Glucocorticoids play a major role in immune regulation. They

inhibit synthesis of glycolipids and prostaglandin precursors and the actions of bradykinin. They also
block secretion and actions of histamine and proinflammatory cytokines (tumor necrosis
factor[TNF]-α, interleukin[IL]-1, and IL-6), thus diminishing inflammation.

Glucocorticoids increase circulating polymorphonuclear cell counts, mostly by preventing their

egress from the circulation. Glucocorticoids decrease diapedesis, chemotaxis, and phagocytosis of
polymorphonuclear cells. High levels of glucocorticoids decrease inflammatory and cellular
immune responses and increase susceptibility to certain bacterial, viral, fungal, and parasitic
infections.

E) Effects on Skin, Bone, and Calcium: Glucocorticoids inhibit fibroblasts, leading to increased
bruising and poor wound healing through cutaneous atrophy. This effect explains the thinning of the
skin and striae that are seen in patients with Cushing syndrome. Glucocorticoids have the overall
effect of decreasing serum calcium and have been used in emergency therapy for certain types of
hypercalcemia. The most significant effect of long-term glucocorticoid excess on calcium and bone
metabolism is osteoporosis.

F) Central Nervous System Effects: Glucocorticoids readily penetrate the blood-brain barrier
and have direct effects on brain metabolism. They stimulate appetite and cause insomnia with a
reduction in rapid eye movement (REM) sleep. Glucocorticoid excess produces psychosis in some
patients.

II. Actions of Mineralocorticoids: Mineralocorticoids have more-limited actions than

glucocorticoids. Their major function is to maintain intravascular volume by conserving sodium
and eliminating potassium and hydrogen ions. Thus, patients with mineralocorticoid deficiency can
develop weight loss, hypotension, hyponatremia, and hyperkalemia, whereas patients with
mineralocorticoid excess can develop hypertension, hypokalemia, and metabolic alkalosis.

III. Actions of the Adrenal Androgens: Many actions of adrenal androgens are exerted through
their conversion to active androgens or estrogens such as testosterone, dihydrotestosterone, estrone,
and estradiol. In men, <2% of the biologically important androgens are derived from adrenal
production, whereas in women approximately 50% of androgens are of adrenal origin. Adrenal
androgens contribute to the physiologic development of pubic and axillary hair during normal
puberty. They also play an important role in the pathophysiology of congenital adrenal hyperplasia,
premature adrenarche, adrenal tumors, and Cushing syndrome.

121
ADRENAL MEDULLA: The proportions of epinephrine and norepinephrine in the
adrenal gland vary with age. In early fetal stages, there is practically no epinephrine; at birth,
norepinephrine remains predominant. Both epinephrine and norepinephrine raise mean arterial
blood pressure, but only epinephrine increases cardiac output. By increasing peripheral vascular
resistance, norepinephrine increases systolic and diastolic blood pressures with only a slight
reduction in the pulse rate. Epinephrine increases the pulse rate and, by decreasing the
peripheral vascular resistance, decreases the diastolic pressure.

3. Thyroid hormones:

T4 levels in sick intensive care nursery (ICN) infants,

healthy term infants, and normal adults. (TSH) levels in healthy
preterm infants

122
 Circulating TSH and T4 levels are minimal until approximately 18 to 20 weeks. After 20 weeks,
there is a progressive increase in TSH and free T4 level.
 There is an increase in the T4:TSH ratio, suggesting maturation of the negative feedback control
of the HPT axis
 T3 levels also progressively increase, although later, after approximately 30 weeks of gestation.

4. Hirsutism:

Hirsutism

Hirsutism is defined as abnormally increased terminal (mature, heavy, dark) hair growth in areas of
the body where hair growth is normally androgen dependent. Hirsutism as an isolated finding is to
be distinguished from masculinization. The latter includes alteration in muscle mass, clitoral
enlargement, and voice change, generally manifesting as a rapid evolution (over months).

CAUSES OF HIRSUTISM
PERIPHERAL
Idiopathic
Partial androgen insensitivity (5α-reductase deficiency)
HAIR-AN syndrome (hirsutism, androgenization, insulin resistance, and acanthosis
nigricans)
Hyperprolactinemia
GONADAL
Polycystic ovary syndrome (polycystic ovaries, chronic anovulation)
Ovarian neoplasm (Sertoli-Leydig cell, granulosa cell, thecoma, gynandroblastoma, lipoid
cell, luteoma, hypernephroma, Brenner tumor)
Gonadal dysgenesis (Turner mosaic with XY or H-Y antigen positive)
ADRENAL
Cushing syndrome
123
 Adrenal hyper-responsiveness
Congenital adrenal hyperplasia (classic, cryptic, adult onset)
21-Hydroxylase deficiency
11-Hydroxylase deficiency
3β-Hydroxysteroid deficiency
17β-Hydroxylase deficiency
Adrenal neoplasm (adenoma, cortical carcinoma)
EXOGENOUS
Minoxidil
Dilantin
Cyclosporine
Anabolic steroids
Acetazolamide (Diamox)
Penicillamine
Oral contraceptives with androgenic progestins
Danazol
Androgenic steroids
Psoralens
Hydrochlorothiazide
Phenothiazines
CONGENITAL ANOMALIES
Trisomy 18 (Edwards syndrome)
Cornelia de Lange syndrome
Hurler syndrome
Juvenile hypothyroidism

Estrogen and progestin suppression of ovarian function, with or without added antiandrogen
treatment, is the mainstay of therapy for these patients. Patients should therefore be advised that the
effects of medical therapy accrue slowly, over many months.

Idiopathic hirsutism (without evidence of androgen excess) usually responds to antiandrogen or

androgen suppression therapy similarly to hirsutism associated with elevated androgens and
anovulation (PCOS), and benign hyperandrogenism not associated with PCOS.

4. PCOD:

Polycystic ovary syndrome (PCOS) is a common disorder of reproductive hormone dysfunction,

often with associated metabolic abnormalities, that affects 5-8% of women of reproductive age.

It is characterized by the triad of (the Rotterdam criteria)

1. oligo-ovulation or anovulation,

124
 2. clinical or biochemical hyperandrogenism, and
3. ovarian cysts (≥12 immature follicles)

Pathophysiology:

Schematic of pathophysiology of polycystic ovary syndrome and mechanism of therapeutic drugs.

DHT, dihydrotestosterone; LH, luteinizing hormone; SHBG, sex hormone binding globulin; OCPs,
oral contraceptive pills

LIFELONG HEALTH COMPLICATIONS

PRENATAL OR ADOLESCENCE, REPRODUCTIVE

POSTMENOPAUSAL
CHILDHOOD YEARS
REPRODUCTIVE
Menstrual irregularity
Hirsutism
Premature adrenarche
Acne
Early menarche Delayed menopause
Infertility
Endometrial cancer
Miscarriage

125
 PRENATAL OR ADOLESCENCE, REPRODUCTIVE
POSTMENOPAUSAL
CHILDHOOD YEARS
Pregnancy complications
METABOLIC
Obesity Obesity
Impaired glucose tolerance Impaired glucose
Insulin resistance tolerance
Abnormal fetal growth
Dyslipidaemia Insulin resistance
Type 2 diabetes Dyslipidaemia
Type 2 diabetes
OTHER
Sleep apnea
Fatty liver Cardiovascular disease
Depression

Investigations:
s. androgens, free T4, TSH, Prolactin. Fasting glucose, insulin. USG

Treatment:

Life style modifications:

OCP
Metformin
Antiandrogens

126
 ENVIRONMENT

1. Radiation
2. Environmental pollution
3. Bioterrorism
4. Biomedical waste
5. Disaster management

1. Radiation:
Radiation exposure may be natural (50%) or environmental (man-made) (50%).
The contribution of man-made radiation has dramatically increased to 50% from 15% in the
mid-1980s.
Sources with %
Radon and thoron 37%
CT 24%
Nuclear medicine 12%
Interventional fluoroscopy 7%
Biological effects:
1. Deterministic effects (determined by the dose) are characterized by a threshold dose: For example,
cataracts occur with an acute exposure to > 200 rad or with long-term exposure to > 500 rad.
Deterministic effects never occur from the doses generally used in diagnostic radiation.
2. Stochastic (random) effects are of greater concern because they can occur at any dose; that is,
there is no threshold, with the probability of an effect increasing with rising dose.
3. Syndromes associated with increased exposure to radiation:
Ataxia telangiectasia, downs, ushers, fanconi’s anemia and basal cell nevoid syndrome.
Side effects Early:
The acute effects of therapy (occurring less than 3 months after therapy begins) are usually related
to the area of the body being irradiated (except fatigue, which can begin during this time period).
These acute effects include radiation-caused pneumonitis, dermatitis, mucositis and esophagitis,
cerebral edema, and swelling of the organ irradiated.
Late:
LATE EFFECTS OF RADIATION THERAPY IN CHILDREN TREATED FOR CANCER

SYSTEM LATE EFFECT

Muscular hypoplasia
Musculoskeletal Scoliosis, kyphosis, lordosis
Osteocartilaginous exostosis
Impaired growth hormone
Adrenocorticotropic hormone deficiency
Neuroendocrine (cranial or cranial spinal) Thyrotropin-releasing deficiency
Precocious puberty (females mostly)
Gonadotropin deficiency
Ovarian failure
Gonad failure
Testicular failure
Structured changes
Central nervous system dysfunction
Cognitive changes

127
SYSTEM LATE EFFECT
Pulmonary fibrosis
Nephropathy
Liver failure
Arteritis
Other
Eye impairment
Ear impairment
Bone marrow dysfunction
Cardiac impairment

Treatment: (rbcde)
The most effective treatment requires knowledge of both the radionuclide and the chemical form.
Treatment must be instituted quickly to be effective.
1. Removal treatment involves cleaning a contaminated wound and performing stomach lavage
or administration of cathartics in the case of ingestion. Administration of alginate-containing
antacids also usually helps in removal by decreasing absorption in the gastrointestinal tract.
2. Blocking therapy is the administration of potassium iodine or other stable iodine-containing
compounds to patients with known internal contamination with radioactive iodine.
3. Chelation therapy: Cases of internal contamination with transuranic elements (americium and
plutonium) may require chelation therapy with calcium diethylene triamine pentaacetic acid (DTPA)
and ZINC.
4. Dilution therapy is used in cases of tritium (radioactive hydrogen as water) contamination.
Forcing fluids promotes excretion.
5. Enhancing elimination: Prussian blue has been approved for internal contamination with
cesium or thallium. It can speed fecal elimination of radioactive cesium from the body. Prussian blue
can be given days after ingestion, unlike potassium iodine.
Prevention:
1. No exposure during pregnancy.
2. Radon exposure can be minimised by increasing ventilation at home.
3. Sealing of cracks in the foundation.
4. Creating negative pressure under the basement floor.
5. Prohibiting the use of building materials containing radium may help.
6. Window glass blocks all the ultraviolet rays.
7. Use of sunscreen lotions though controversial has some benefits.
8. Wearing a hat and using sunglasses is advisable.
9. Health education and improving literacy levels.
10. Active role of media in educating people.

2. Environmental pollution:
Can be caused by
1. Air a) gases b) particulate like dust, smoke, smog, fumes, aerosols, industrial stack
emissions. c) Chemical and gaseous substances
2. Water pollution – contamination by industrial wastes, agricultural wastes, domestic wastes
and pathogenic organisms.
3. Soil pollution - improperly disposed excreta, waste materials from industries dumped on
land, fertilisers, pathogenic organisms, parasites and radioactive materials.
4. Food contamination- milk, meat, ice, fruits and vegetables.

128
 5. House hold hazards- medicine, kitchen gas connection and sharps.
Prevention:
1. Control population explosion.
2. Monitoring of pollution levels frequently especially near industrial areas.
3. Educating the public on the causes and effects of pollutants and how best these can be minimised.
4. Building of factories away from the living areas.
5. Careful planning of factory stacks to prevent health hazards.
6. Enforcement of rigorous controls on emission including transport vehicles.
7. Adequate vector control.
8. Conservation of forest and wild life.
9. Health education and improvement of literacy levels.
10. Active role by media.

3. CRITICAL BIOLOGIC AGENTS OF TERRORISM (TAP SVB)

ISOLATION INITIAL
CLINICAL I Period PROPHYLAX
DISEASE PRECAUTIO TREATMEN
FINDINGS (DAYS) IS
NS T
Anthrax
(inhalational)
Febrile
Patients who
prodrome with Ciprofloxacin
are clinically
rapid OR
stable after 14 Ciprofloxacin
progression to doxycycline
d can be 10-15 mg/kg
mediastinal AND
switched to a 1-5 Standard PO q12h OR
lymphadenitis clindamycin
single oral doxycycline 2.2
and
agent mg/kg PO q12h
mediastinitis, AND
(ciprofloxacin
sepsis, shock, penicillin
or doxycycline)
and meningitis
to complete a
60-d course.
Febrile
prodrome with
rapid
Doxycycline 2.2
progression to Gentamicin
mg/kg PO q12h
fulminant Droplet (for OR
Plague OR
pneumonia, 2-3 first 3 d of doxycycline
(pneumonic) Ciprofloxacin
hemoptysis, therapy) OR
20 mg/kg PO
sepsis, ciprofloxacin
q12h
disseminated
intravascular
coagulation

129
 ISOLATION INITIAL
CLINICAL I Period PROPHYLAX
DISEASE PRECAUTIO TREATMEN
FINDINGS (DAYS) IS
NS T
Pneumonic:
abrupt onset of
fever with
fulminant Same as for Same as for
Tularemia 2-10 Standard
pneumonia plague plague
Typhoidal:
fever, malaise,
abdominal pain
Vaccination
Febrile
may be
prodrome with
effective if
synchronous, Airborne Supportive
Smallpox 7-17 given within the
centrifugal, (+ contact) care
first several
vesiculopustula
days after
r exanthema
exposure
Supportive
Afebrile
care;
descending
antitoxin
symmetric
may halt the
Botulism flaccid 1-5 Standard None
progression of
paralysis with
symptoms but
cranial nerve
is unlikely to
palsies
reverse them
Febrile
prodrome with Contact Supportive
rapid (consider care;
Viral
progression to airborne in ribavirin
hemorrhagic 4-21 None
shock, cases of may be
fevers
purpura and massive beneficial in
bleeding hemorrhage) select cases
diatheses

DISEASES CAUSED BY AGENTS OF CHEMICAL AND BIOLOGIC TERRORISM,

CLASSIFIED BY SYNDROME
NEUROMUSCULAR RESPIRATORY DERMATOLOGIC
SYMPTOMS SYMPTOMS FINDINGS
PROMINENT PROMINENT PROMINENT

Chlorine
Sudden-o Mustard
Nerve agents Phosgene
nset Lewisite
Cyanide

Tularemia
Delayed-
Botulism Anthrax Smallpox
onset
Plague

130
 EYE, EAR, SKIN, RHEUMATOLOGY
1. Acne:
2. Seborrheic dermatitis
3. Developmental dysplasia of hip
4. Osteogenesis imperfecta
5. Achondroplasia
6. Jia/ mas
7. Kawasaki
8. Heat injuries
9. Performance enhancing drugs
10. Hearing impairment
11. AOM
12. Cutaneous reactions to Sunlight
13. Osteomyelitis
14. Torticollis
15. Hypopigmented patch
16. Childhood vasculitis
17. Cutaneous manifestations of systemic diseases
18. Atopic dermatitis
19. Differential diagnosis for limping gait
20. Bowing of legs
21. Hyperpigmentation
22. HSP
23. Impetigo
24. Scabies
Acne:
It is a common chronic inflammation of pilosebacious units that mainly affect adolescents during
puberty.
Etiology: multifactorial
1. Genetic 2. Emotional stress 3. Endocrine factors-
androgens
4. Exposure to acnegenic mineral oils, hair preparations and greasy cosmetics.
5. Drugs- lithium, steroids
6. Triggered by menstruation, pressure on the skin by leaning face on hands.
7. Proliferation of Propionibacterium acnes within the follicle.
8. Increased production of sebum by sebaceous glands.
9. Diet – little evidence that particular foods can trigger acne.
10. Climate - flaring during winter and remission during summer.
Clinical features:
 Acne vulgaris is characterized by 4 basic types of lesions:
open and closed comedones, papules, pustules and nodulocystic lesions.
 Sites of predilection include face, chest, upper back and deltoid.
 Acne can also be classified by mild, moderate, moderately severe and severe.
CLASSIFICATION OF ACNE
SEVERITY DESCRIPTION
Comedones (noninflammatory lesions) are the main lesions. Papules and pustules
Mild
may be present but are small and few in number (generally < 10).
Moderate numbers of papules and pustules (10-40) and comedones (10-40) are
Moderate
present. Mild disease of the trunk may also be present.

131
 SEVERITY DESCRIPTION
Numerous papules and pustules are present (40-100), usually with many
Moderately
comedones (40-100) and occasional larger, deeper nodular inflamed lesions (up to
severe
5). Widespread affected areas usually involve the face, chest, and back.
Nodulocystic acne and acne conglobata with many large, painful nodular or
Severe pustular lesions are present, along with many smaller papules, pustules, and
comedones.
Treatment:
A) General measures:
 No evidence shows that early treatment, with the exception of isotretinoin, alters the course of
acne.
 Therapy must be individualized and aimed at preventing microcomedone formation through
reduction of follicular hyperkeratosis, sebum production, the P. acnes population in follicular
orifices, and free fatty acid production.
 It is also important to address the potentially severe emotional impact of acne on adolescents.
 Diet: Little evidence shows that ingestion of particular foods can trigger acne flares. When a
patient is convinced that certain dietary items exacerbate acne, it is prudent for him or her to
omit those foods.
 Climate: Climate appears to influence acne, in that improvement frequently occurs in
summer and flares are more common in winter. Emotional tension and fatigue seem to
exacerbate acne in many individuals.
 Cleansing: Cleansing with soap and water removes surface lipid and renders the skin less
oily in appearance, but no evidence shows that surface lipid has a role in generating acne
lesions. Only superficial drying and peeling are achieved by cleansing, and almost any mild
soap or astringent is adequate. Repetitive cleansing can be harmful because it irritates and
chaps the skin. Greasy cosmetic and hair preparations must be discontinued because they
exacerbate pre-existing acne and cause further plugging of follicular pores. Manipulation and
squeezing of facial lesions only ruptures intact lesions and provokes a localized inflammatory
reaction
B) Topical
1. Topical antibiotics (Clindamycin, erythromycin)
2. Benzoyl peroxide gels (2%, 5%) - antimicrobial
3. Topical retinoids (tretinoin, adapalene, tazarotene)- gradual increase in conc and frequency, over a
period of over 2 to 5 months.
4. Combination of any of the above three.
C) Sytemic:1. Tetracycline, minocycline, doxycycline and erythromycin.
2. Hormonal agents: OCP (only in females) and spironolactone.
3. Oral 13- cis- retinoic acid --Birth defects; adherence to pregnancy prevention program.
hypertriglyceridemia, elevated results on liver function tests, abnormal night vision, benign
intracranial hypertension are possible common or important side effects; laboratory testing of lipid
profiles and liver function tests monthly should be performed monthly until dose is stabilized.
D) Surgery for scars: intralesional steroids, intralesional 5-FU, intralesional bleomycin and vascular
laser
2. Seborrheic dermatitis:
Seborrheic dermatitis is a chronic inflammatory disease most common in infancy and adolescence
that .
The cause is unknown, as is the role of the sebaceous glands in the disease. Malassezia furfur has
been implicated as a causative agent.

Clinical features:

 The disorder may begin in the 1st mo of life and may be most troublesome in the 1st yr.
132
  Diffuse or focal scaling and crusting of the scalp, sometimes called cradle cap, may be the
initial and at times the only manifestation.
 A greasy, scaly, erythematous papular dermatitis, which is usually nonpruritic, may
involve the face, neck, retroauricular areas, axillae, and diaper area.
 In adolescents-

Histopathology is not diagnostic but most characteristic feature is neutrophils at the tips of the
dilated follicular opening.

Differntial diagnosis

Treatment:

For scalp: Scalp lesions should be controlled with an antiseborrheic shampoo (selenium sulfide,
sulfur, salicylic acid, zinc pyrithione, tar), used daily if necessary. Inflamed lesions usually respond
promptly to low- to medium-potency topical corticosteroid therapy.

Face: Topical antifungal agents (ketoconazole, bifonazole) effective against Malassezia

Intertrigenous areas: castellanis paint
Wet compressions in fissured areas.
3.Developmental dysplasia of hip:
Developmental dysplasia of the hip (DDH) refers to a spectrum of pathology in the development of
the immature hip joint.
Classification:
1. Acetabular dysplasia
2. Hip subluxation – partial contact b/n hip and acetabulum
3. Hip dislocation- no contact
4. DDH
(a) typical in normal children
(b) teratologic – have identifiable genetic cause

Etiology and risk factors:

Exact etiology is unknown usually multi factorial including genetic, intra uterine and environmental
factors.
1. Antenatal: oligohydramnios, large baby and first pregnancy supporting the theory of crowding
phenomenon
2. Increased laxity of hip capsule probably the result of hormonal, mechanical and genetic factors.
3. Risk factors- breech presentation, family history and torticollis.
4. Female sex. 5. Left hip is more involved.
Clinical features and treatment:
Age Clinical features treatment
Neonate DDH in the neonate is asymptomatic and must Braces- pavlik, frejka pillow and
be screened for by specific maneuvers. von rosen splint
The Barlow provocative maneuver assesses the By maintaining hip in a Pavlik
potential for dislocation of a nondisplaced hip. harness on a full-time basis for 6
The Ortolani test is the reverse of Barlow test wk, hip instability resolves in 95%
of cases
Infant apparent shortening of the thigh, The goals in the management of
proximal location of the greater trochanter, DDH are to obtain and maintain a
asymmetry of the gluteal or thigh folds concentric reduction of the
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 Limitation of abduction is the most reliable femoral head within the
sign of a dislocated hip in this age group. acetabulum to provide the optimal
Galeazzi test environment for the normal
Klisic test examiner places the 3rd finger over development of both the femoral
the greater trochanter and the index finger of the head and acetabulum. The later the
same hand on the anterior superior iliac spine. In diagnosis of DDH is made, the
a normal hip, an imaginary line drawn between more difficult it is to achieve these
the two fingers points to the umbilicus. In the goals.
dislocated hip, the trochanter is elevated, and the 6months to 2 years:
line projects halfway between the umbilicus and Surgery either open or closed
the pubis reduction
Older than 2 years
Pelvic osteotomy by open
reduction
Walking The walking child often presents to the physician Complications
child after the family has noticed a limp, a waddling Redislocation
gait, or a leg-length discrepancy. Residual subluxation
Trendelenburg sign is positive. Avascular necrosis of femoral
Excessive lordosis. epiphysis
Post op complications- infection
Investigations:
Ultrasonography: Because it is superior to radiographs for evaluating cartilaginous structures,
ultrasonography is the diagnostic modality of choice for DDH before the appearance of the femoral
head ossific nucleus.
Radiographs: Radiographs are recommended for an infant once the proximal femoral epiphysis
ossifies, usually by 4-6 months. Shenton line is broken. Acetabular index is less than 30 degrees
by 4 months in normal infant.
Perkins line, hilgenreiner line are also disrupted.
4. Osteogenesis imperfecta:
Osteogenesis imperfecta (OI) (brittle bone disease), the most common genetic cause of osteoporosis,
is a generalized disorder of connective tissue.
Etiology: Type I collagen is the primary component of the extracellular matrix of bone and skin.
Structural or quantitative defects in type I collagen cause the full clinical spectrum of OI.
Clinical Manifestations:

OI has the triad of fragile bones, blue sclera and early deafness.

Other features: Recurrent fractures, easy bruising, joint laxity, short stature, bowing of
extremities, scoliosis, vertebral compression and respiratory insufficiency.

Types: The Sillence classification divides OI into four types based on clinical and
radiographic criteria. Additional types have been proposed based on histologic distinctions.

Type1- mild OI
Type 2- perinatal - lethal

Type 3- progressive deforming

Type 4- moderately severe

Diagnosis:

1. Clinical features 2. Blood normal /increased

SAP

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3. X ray a.osteoporotic bones
b. metaphyseal flaring

c. popcorn formation of growth plates

d. vertebral compression

4. Dual energy x-ray absorptiometry (DEXA) L1-L2 z-score in the −6 to −7 range.

5. Collagen biochemical studies 6. Gel

electrophoresis for collagen

7. Antenatal: fetal ultra sound and cvs biopsy

8. Spirometry: decreased pulmonary functions

Complications:

Neuro- Basilar invagination, brainstem compression, hydrocephalus, and syringohydromyelia.

Resp- Recurrent pneumonias and declining pulmonary function occur in childhood.

Treatment:

 There is no cure for OI.

 Active physical rehabilitation in the early years.
 Psychologic support with body image issues.
 Orthopedic- fracture management and correction of deformity to enable function.
 Bisphosphonates (IV pamidronate or oral olpadronate) confers some benefits.
 Growth hormone improves bone histology in growth-responsive children.

Add a note on prognosis and genetic counselling.

5. Achondroplasia:
Mode of inheritance- AD
Genetics- typical achondroplasia have mutations at FGFR3.
Clinical Manifestations:

1. Infants usually exhibit delayed motor milestones, often not walking alone until 18-24 mo.
2. Intelligence is normal unless central nervous system complications develop.
3. As the child begins to walk, the gibbus usually gives way to an exaggerated lumbar lordosis.
4. Virtually all infants and children with achondroplasia have large heads, although only a
fraction has true hydrocephalus.
5. The spinal canal is stenotic and spinal cord compression can occur at the foramen magnum
and in the lumbar spine.
6. Other common problems include dental crowding, articulation difficulties, obesity, and
frequent episodes of otitis media, which can contribute to hearing loss.
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Diagnosis:

Skeletal radiographs confirm the diagnosis.

1. The calvarial bones are large, whereas the cranial base and facial bones are small.
2. The vertebral pedicles are short throughout the spine as noted on a lateral radiograph.
3. The interpedicular distance, which normally increases from the 1st to the 5th lumbar vertebra,
decreases in achondroplasia.
4. The iliac bones are short and round and the acetabular roofs are flat.
5. The fibula is disproportionately long compared with the tibia.

Treatment: Supportive. Prenatal diagnosis is available.

6. Juvenile idiopathic arthritis:

Juvenile idiopathic arthritis (JIA) (formerly juvenile rheumatoid arthritis) is the most common
rheumatic disease in children and one of the more common chronic illnesses of childhood. JIA
represents a heterogeneous group of disorders all sharing the clinical manifestation of arthritis.
INTERNATIONAL LEAGUE OF ASSOCIATIONS FOR RHEUMATOLOGY
CLASSIFICATION OF JUVENILE IDIOPATHIC ARTHRITIS (JIA)
CATEGORY DEFINITION
Arthritis in ≥1 joints with, or preceded by, fever of at least 2 wk in
duration that is documented to be daily for at least 3 days and
accompanied by ≥1 of the following:
Systemic-onset JIA 1 Evanescent (nonfixed) erythematous rash.
2 Generalized lymph node enlargement.
3 Hepatomegaly or splenomegaly or both.
4 Serositis.

Arthritis affecting 1-4 joints during the 1st 6 mo of disease. Two

subcategories are recognized:
1 Persistent oligoarthritis—affecting ≤4 joints throughout the disease
Oligoarticular JIA course.
2 Extended oligoarthritis—affecting >4 joints after the 1st 6 mo of
disease.
Polyarthritis Arthritis affecting ≥5 joints during the 1st 6 mo of disease; a test for RF is
(RF-negative) negative.
Polyarthritis Arthritis affecting ≥5 joints during the 1st 6 mo of disease; ≥2 tests for RF at
(RF-positive) least 3 mo apart during the 1st 6 mo of disease are positive.
Arthritis and psoriasis, or arthritis and at least 2 of the following: POND
1. Dactylitis.
Psoriatic arthritis
2. Nail pitting and onycholysis.
3. Psoriasis in a 1st-degree relative.
Enthesitis-related Arthritis and enthesitis, or arthritis or enthesitis with at least 2 of the
arthritis following:
1 Presence of or a history of sacroiliac joint tenderness or inflammatory

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CATEGORY DEFINITION
lumbosacral pain or both.
2 Presence of HLA-B27 antigen.
3 Onset of arthritis in a male > 6 yr old.
4 Acute (symptomatic) anterior uveitis.
5 History of ankylosing spondylitis, enthesitis-related arthritis, sacroiliitis
with inflammatory bowel disease, Reiter syndrome, or acute anterior
uveitis in a 1st-degree relative.
Undifferentiated
Arthritis that fulfills criteria in no category or in ≥2 of the above categories
arthritis

Macrophage activation syndrome (MAS) is a rare but potentially fatal complication of SoJIA that
can occur at anytime during the disease course. It is also referred to as secondary hemophagocytic
syndrome or hemophagocytic lymphohistiocytosis (HLH).

MAS classically manifests as acute onset of profound anemia associated with thrombocytopenia or
leukopenia with high, spiking fevers, lymphadenopathy, and hepatosplenomegaly.

PRELIMINARY DIAGNOSTIC GUIDELINES FOR MACROPHAGE ACTIVATION

SYSTEM (MAS) COMPLICATING SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS
(JIA)
LABORATORY CRITERIA
1 Decreased platelet count (≤262 ? 109/L).
2 Elevations of aspartate aminotransferase (>59 U/L).
3 Decreased white blood cell count (≤4.0 ? 109/L).
4 Hypofibrinogenemia (≤2.5 g/L).

CLINICAL CRITERIA
1 Central nervous system dysfunction (headache, lethargy, disorientation, irritability, seizures,
coma).
2 Hemorrhages (purpura, easy bruising, mucosal bleeding).
3 Hepatomegaly (edge of liver ≥3 cm below the costal arch).
HISTOPATHOLOGIC CRITERION
• Evidence of macrophage hemophagocytosis in the bone marrow aspirate
DIAGNOSTIC RULE
• The diagnosis of MAS requires the presence of any 2 or more laboratory criteria or of any 2 or 3
or more clinical and/or laboratory criteria. A bone marrow aspirate for the demonstration of
hemophagocytosis may be required only in doubtful cases.

Emergency treatment with high-dose intravenous methylprednisolone, cyclosporine, or anakinra may

be effective. Severe cases may require therapy similar to that for primary HLH.

Laboratory tests: 1. ANA seropositivity

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2. Elevated white blood cell and platelet counts and a microcytic anemia. ESR elevated except in
MAS.
3. Anti–cyclic citrullinated peptide (CCP) antibody, like RF, is a marker of more aggressive
disease.
4. Ferritin values are typically elevated.
5. Radiographic changes: soft tissue swelling, Periarticular osteoporosis, erosions and bony
destruction.
6. MRI is more sensitive than radiography to early changes.
7. Ophthal slit lamp examination : for uveitis
Treatment: Dmards Biological agents
Nsaids Methotrexate Anti TNF α- etanercept, infliximab, adalimumab
Naproxen Sulfasalazine Anti-Cytotoxic T Lymphocyte–Associated Antigen-4
Ibubrofen leflunomide Immunoglobulin- abatacept
meloxicam Anti CD 20 – rituximab
Interlukin 1 receptor antagonist- ankinra
Non pharmacological:
1. Dietary advice with appropriate calcium, vitamin D, protein and calorie intake.
2. Physical therapy and occupational therapy.
Differential diagnosis:
1. Rheumatic and inflammatory diseases: juvenile idiopathic arthritis, SLE, Behcet, Kawasaki,
HSP
2. Seronegative spondyloarthropathies: juvenile AS, IBD, psoriatic arthritis
3. Infectious illness: bacterial (staphy, pneumo), lyme disease, viral (mumps, EBV, rubella),
fungal
4. Reactive arthritis: acute rheumatic fever, reactive arthritis
5. Immunodeficiency: HIV, hypogammaglobulinemia
6. Congenital and metabolic disorders: gout, pseudogout, scurvy, hypo/hyperthyroidism
7. Bone and cartilage disorders: trauma, avascular necrosis, benign bone tumours
8. Neuropathic disorders: peripheral neuropathies, carpal tunnel syndrome
9. Neoplastic disorders: leukemia, lymphoma, bone tumours
10. Haematological disorders: hemophilia
11. Miscellaneous: raynaud phenomenon, fibromyalgia, growing pains.

7. Kawasaki: Kawasaki disease (KD), formerly known as mucocutaneous lymph node

syndrome and infantile polyarteritis nodosa.
Etiology:
Unknown infectious origin genetic predisposition
Clinical and laboratory features of Kawasaki:
EPIDEMIOLOGIC CASE DEFINITION (CLASSIC CLINICAL CRITERIA)
1.Fever persisting at least 5 days
2. Presence of at least 4 principal features:
Changes in extremities:
Acute: Erythema of palms, soles; edema of hands, feet
Subacute: Periungual peeling of fingers, toes in weeks 2 and 3
Polymorphous exanthem
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 Bilateral bulbar conjunctival injection without exudate
Changes in lips and oral cavity: Erythema, lip cracking, strawberry tongue, diffuse
injection of oral and pharyngeal mucosa
Cervical lymphadenopathy (>1.5 cm diameter), usually unilateral
3. Exclusion of other diseases with similar findings

Other clinical and laboratory evidence:

Cvs- myocarditis, ccf, coronary artery aneurysms
Cns- extreme irritability, aseptic meningitis, hearing loss
Git- nausea, vomiting, diarrhoea, abdominal pain and hepatic dysfunction
Musculo skeletal- arthritis, arthralgia
Genitourinary – urethritis, meatitis
Skin: erythema and induration at BCG site and desquamating rash in groin
eye: Anterior uveitis

In the absence of treatment, KD can be divided into 3 clinical phases.

The acute febrile phase is characterized by fever and the other acute signs of illness and usually lasts
1-2 wk.
The subacute phase is associated with desquamation, thrombocytosis, the development of coronary
aneurysms, and the highest risk of sudden death in patients in whom aneurysms have developed,
and generally lasts about 2 wk.
The convalescent phase begins when all clinical signs of illness have disappeared and continues
until the erythrocyte sedimentation rate (ESR) returns to normal, typically about 6-8 wk after the
onset of illness.
Laboratory findings:
Blood- leukocytosis, anemia, elevated CRP, ESR, hypoalbuminemia, hyponatremia, thrombocytosis
(2 nd week), increased Transaminases
Urine- sterile pyuria
CSF- pleocytosis and leukocytosis
Echo- pericarditis, pericardial effusion, mitral regurgitation, coronary aneurysms > 8 mm pose
greater risk.
Predictors of poor outcome:
Male gender, young age and (3 increase and 3 decrease)
lab evidence of neutrophilia, thrombocytopenia, hepatic transaminase elevation,
hyponatremia, hypoalbuminemia and elevated CRP.

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 Supplemental laboratory criteria include albumin ≤3.0 g/dL, anemia for age, elevation of alanine
aminotransferase, platelet count after 7 days ≥450,000/mm3, white blood cell count ≥15,000/mm3,
and urine white blood cell count ≥10 /high-power field

TREATMENT OF KAWASAKI DISEASE

ACUTE STAGE
• Intravenous immunoglobulin 2 g/kg over 10-12 hr
AND
• Aspirin 80-100 mg/kg/day divided every 6 hr orally until patient is afebrile for at least 48 hr
CONVALESCENT STAGE
• Aspirin 3-5 mg/kg once daily orally until 6-8 wk after illness onset
LONG-TERM THERAPY FOR PATIENTS WITH CORONARY ABNORMALITIES
• Aspirin 3-5 mg/kg once daily orally
• Clopidogrel 1 mg/kg/day (max 75 mg/day)
• Most experts add warfarin or low-molecular-weight heparin for those patients at particularly
high risk of thrombosis
ACUTE CORONARY THROMBOSIS
• Prompt fibrinolytic therapy with tissue plasminogen activator or other thrombolytic agent
under supervision of a pediatric cardiologist

Ivig resistant KD: Defined by persistent or

recrudescent fever 36 hr after completion of the initial IVIG infusion. Patients with IVIG resistance
are at increased risk for coronary artery abnormalities. Typically, another dose of IVIG at 2 g/kg is
administered to patients with IVIG resistance. Other therapies that have been used to date include

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intravenous methylprednisolone and, less often, cyclophosphamide and plasmapheresis. A tumor
necrosis factor inhibitor, infliximab, has also been tried.

DIFFERENTIAL DIAGNOSIS OF KAWASAKI DISEASE

VIRAL INFECTIONS
• Adenovirus
• Enterovirus
• Measles
• Epstein-Barr virus
BACTERIAL INFECTIONS
• Scarlet fever
• Rocky Mountain spotted fever
• Leptospirosis
• Bacterial cervical lymphadenitis
RHEUMATOLOGIC DISEASE
• Systemic-onset juvenile idiopathic arthritis
OTHER
• Toxic shock syndrome
• Staphylococcal scalded skin syndrome
• Drug hypersensitivity reactions
• Stevens-Johnson syndrome

8. Heat injuries:

In human beings a group of reflex responses that are primarily integrated in the hypothalamus
operate to maintain body temperature within a narrow range inspite of wide fluctuations in
environmental temperature.

Temperature regulating mechanisms:

Mechanisms activated by cold Mechanisms activated by heat

Increasing heat production Decrease heat production

Shivering Hunger Anorexia
Increased activity Apathy and inertia
Increased secretion of epinephrine and
Norepinephrine Increase heat loss
Decreased heat loss Cutaneous vasodilatation
Cutaneous vasoconstriction Shivering
Horripulation Curling up Increased respiration

Why children are more vulnerable to heat illness than adults:

1. They have greater ratio of surface area to body mass than adults.
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2. Produce greater heat per kilogram of body weight than adults during activity.

3. The sweat rate is lower in children and the temperature at which sweating occurs is higher.

4. Children can take longer to acclimatize to warmer, more humid environments.

5. Children also have a blunted thirst response compared to adults and might not consume enough
fluid during exercise to prevent dehydration.

Categories:

Three categories for heat illness are generally used: heat cramps, heat exhaustion, and heat stroke.

1. Heat cramps are the most common heat injury and usually occur in mild dehydration and or salt
depletion, usually affecting the calf and hamstring muscles. They tend to occur later in activity, as
muscle fatigue is reached and water loss and sodium loss worsen. They respond to oral rehydration
with electrolyte solution and with gentle stretching. Heat syncope is fainting after prolonged exercise
attributed to poor vasomotor tone and depleted intravascular volume, and it responds to fluids,
cooling, and supine positioning. Heat edema is mild edema of the hands and feet during initial
exposure to heat; it resolves with acclimatization. Heat tetany is carpopedal tingling or spasms
caused by heat-related hyperventilation. It responds to moving to a cooler environment and
decreasing respiratory rate (or rebreathing by breathing into a bag).

2. Heat exhaustion is a moderate illness with core temperature 100-103?F (37.7-39.4?C).

Performance is obviously affected, but central nervous system (CNS) dysfunction is mild, if present.
It is manifested as headache, nausea, vomiting, dizziness, orthostasis, weakness, piloerection, and
possibly syncope. Treatment includes moving to a cool environment, cooling the body with fans,
removing excess clothing, and placing ice over the groin and axillae. If a patient is not able to
tolerate oral rehydration, IV fluids are indicated. If rapid improvement is not achieved, transport to
an emergency facility is recommended.

3. Heat stroke is a severe illness manifested by CNS disturbances and potential tissue damage. It is
a medical emergency; the mortality rate is 50%. Sports-related heat stroke is characterized by
profuse sweating and is related to intense exertion, whereas “classic” heatstroke with dry, hot skin is
of slower onset (days) in elderly or chronically ill persons. Rectal temperature is usually >104?F
(40?C). Significant damage to the heart, brain, liver, kidneys, and muscle occurs with possible fatal
consequences if untreated.

Treatment is immediate whole-body cooling via cold water immersion. Airway, breathing,
circulation, core temperature, and CNS status should be monitored constantly. Rapid cooling should
be ceased when core temperature is ~101-102?F (38.3-38.9?C). IV fluid at a rate of 800 mL/m2 in
the first hour with normal saline or lactated Ringer solution improves intravascular volume and the
body's ability to dissipate heat. Immediate transport to an emergency facility is necessary.

Prevention:
1. Athletes are advised to be well hydrated before exercise and should drink every 20 min during
exercise.
2. Free access to cold water should be advocated to coaches.
3. Practices and competition should be scheduled in the early morning or late afternoon to avoid the
hottest part of the day.
4. Proper clothing such as shorts and t-shirts without helmets can improve heat dissipation.
5. Prepractice and postpractice weight can be helpful in determining the amount of fluid necessary to
replace (8 oz for each pound of weight loss).
6. Salt pills should not be used by most people because of their risk of causing hypernatremia and
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delayed gastric emptying.
9. Performance enhancing drugs: AAG - CDE
GOALS OF
ERGOGENIC DRUG CATEGORY ADVERSE EFFECTS
USE

Multiple organ systems:

infertility, gynecomastia, female
Anabolic-androgenic Controlled Gain muscle
virilization, hypertension,
steroids substance mass, strength
atherosclerosis, physeal closure,
aggression, depression

Increase
Increase estrogens in men;
Controlled testosterone to
Androstenedione overlaps systemic risks with
substance gain muscle
steroids
mass, strength

Increase
Dehydroepiandrosterone Nutritional testosterone to Increase estrogens in men;
(DHEA) supplement gain muscle impurities in preparation
mass, strength

Increase muscle Acromegaly effects: increased

Controlled
Growth hormone mass, strength, lipids, myopathy, glucose
substance
and definition intolerance, physeal closure

Dehydration, muscle cramps,

Nutritional Gain muscle
Creatine gastrointestinal distress,
supplement mass, strength
compromised renal function

Cerebral vascular accident,

Possibly returning Increase weight
arrhythmia, myocardial infarction,
Ephedra alkaloids as nutritional loss, delay
seizure, psychosis, hypertension,
supplement fatigue
death

10. Hearing loss:

Types of Hearing Loss and causes:

Hearing loss can be peripheral or central in origin.

A. Peripheral hearing loss can be conductive, sensorineural, or mixed.

Conductive hearing loss (CHL) the most common type is caused by dysfunction in the transmission
of sound through the external or middle ear or by abnormal transduction of sound energy into neural
activity in the inner ear and the 8th nerve. Common causes of CHL in the ear canal include atresia or
stenosis, impacted cerumen, or foreign bodies. In the middle ear, perforation of the tympanic
membrane (TM), discontinuity or fixation of the ossicular chain, otitis media (OM) with effusion,
otosclerosis, LCH and cholesteatoma can cause CHL.

Sensorineural hearing loss (SNHL) - damage to or maldevelopment of structures in the inner ear.
Causes include genetic (waardenberg, pendred and usher), infections (CMV,EBV, rubella, varicella,
H. influenza), trauma and also can occur secondary to exposure to toxins, chemicals, and
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 antimicrobials.

A combination of CHL and SNHL is considered a mixed hearing loss.

B. Central (or retrocochlear) hearing loss - an auditory deficit originating along the central
auditory nervous system pathways from the proximal 8th nerve to the cerebral cortex. Tumors or
demyelinating disease of the 8th nerve and cerebellopontine angle.

Screening techniques: The recommended hearing screening techniques are either

otoacoustic emissions (OAE) testing or auditory brainstem evoked responses (ABR).

1. The ABR test, an auditory evoked electrophysiologic response that correlates highly with
hearing, has been used successfully and cost-effectively to screen newborns and to identify
further the degree and type of hearing loss. The ABR test does not assess “hearing.” A normal
ABR result only suggests that the auditory system, up to the level of the midbrain, is responsive to
the stimulus used.

2. OAE tests, used successfully in most universal newborn screening programs, are quick, easy to
administer, and inexpensive, and they provide a sensitive indication of the presence of hearing
loss. Results are relatively easy to interpret.

3. Behavioural observation audiometry

Clinical audiological evaluation:

Audiometry
Speech- recognition threshold
Play audiometry
Visual reinforcement audiometry
Tympanometry

Treatment:
1. Once a hearing loss is identified, a full developmental and speech and language evaluation is
needed.
2. Counselling and involvement of parents are required in all stages of the evaluation and
treatment or rehabilitation.
3. A conductive hearing loss often can be corrected through treatment of a middle-ear effusion
(i.e., ear tube placement) or surgical correction of the abnormal sound-conducting mechanism.

4. Children with SNHL should be evaluated for possible hearing aid use by a pediatric
audiologist.
5. Infants and young children with profound congenital or prelingual onset of deafness have
benefited from multichannel cochlear implants.
6. Total communication approach; depending on the individual child's needs, this technique uses
a mixture of sign language, lip-reading, hearing aids, and speech.

11. AOM: It is the most common cause of hearing loss in children.

The term otitis media has 2 main categories:
acute infection, which is termed suppurative or acute otitis media (AOM); and
Inflammation accompanied by effusion, termed nonsuppurative or secretory OM, or otitis
media with effusion (OME).

Factors believed to affect the occurrence of OM include (total 11 points)

age, gender, race, genetic background, socioeconomic status,
type of milk used in infant feeding, degree of exposure to tobacco smoke, season of the year,
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degree of exposure to other children, presence or absence of respiratory allergy,
and vaccination status.

Etiology: (4 + 3)
S.pneumoniae, H.influenza Moraxella catarrhalis S. Aureus
rhinovirus RSV influenza

Diagnosis:
(1) a history of acute onset of signs and symptoms,
(2) the presence of MEE (bulging of TM, absent or diminished mobility of TM, otorrhea, air fluid
level)
(3) signs and symptoms of middle-ear inflammation.(distinct erythema and otalgia)

Inv – Tympanometry, tympanogram

Treatment: 1. Medical:

AGE CERTAIN DIAGNOSIS UNCERTAIN DIAGNOSIS

<6 mo Antibacterial therapy Antibacterial therapy
6 mo-2 Antibacterial therapy if severe illness;
Antibacterial therapy
yr observation option* if non severe illness
Antibacterial therapy if severe illness;
≥2 yr observation option* if nonsevere Observation option*
illness

*
Non severe illness is mild otalgia and fever <39?C in the past 24 hr.
Severe illness is moderate to severe otalgia or fever ≥39?C.

Drugs and duration:

First line: amoxicillin 80-90 mg/kg/day for 10 days
Second line drugs: amoxiclav, cefdinir, ceftriaxone cefuroxime
Add antifungal if no
improvement.

2. Surgical: myringotomy with tympanocentesis or myringotomy with tympanostomy tube

insertion

Complications:
Intratemporal: dermatitis, tympanic membrane perforation, chronic suppurative OM (CSOM),
hearing loss, facial nerve paralysis, cholesteatoma formation, mastoiditis and labyrinthitis.

Intracranial : Meningitis, epidural abscess, subdural abscess, brain abscess, focal encephalitis,
sigmoid sinus thrombosis (also called lateral sinus thrombosis), and otitic hydrocephalus.

12. Cutaneous reactions to sunlight:

Sun burn

Photo allergic eruptions

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Phototoxic drug eruptions

Genetic disorders with photosensitivity- xeroderma pigmentosa, bloom syndrome

Inborn errors of metabolism—porphyrias, hartnup disease

Infectious diseases associated with photosensitivity- recurrent herpes

Skin diseases precipitated or exacerbated by light- lichen planus, lupus erythematosus, psoriasis

Deficient protection due to lack of pigment- vitiligo, oculocutaneous albinism.

13. Osteomyelitis:

Bone infections in children are relatively common and important because of their potential to cause
permanent disability. Early recognition of osteomyelitis in young patients before extensive infection
develops and prompt institution of appropriate medical and surgical therapy minimize permanent
damage.

MOST COMMON CLINICAL

MICROORGANISM
ASSOCIATION
Frequent microorganism in any type of Staphylococcus aureus (susceptible or resistant to
osteomyelitis methicillin)
Coagulase-negative staphylococci, other skin flora,
Foreign body–associated infection
atypical mycobacteria
Enterobacteriaceae, Pseudomonas aeruginosa,
Common in nosocomial infections
Candida spp.
Salmonella spp., S. aureus, or Streptococcus
Sickle cell disease
pneumoniae
Aspergillus spp., Candida albicans, or Mycobacteria
Immunocompromised patients
spp.
Populations in which tuberculosis is
Mycobacterium tuberculosis
prevalent

Clinical features:

1. The earliest signs and symptoms of osteomyelitis, often subtle and nonspecific, are generally
highly dependent on the age of the patient.
2. Neonates might exhibit pseudoparalysis or pain with movement of the affected extremity
(e.g., diaper changes). Half of neonates do not have fever and might not appear ill.
3. Older infants and children are more likely to have fever, pain, and localizing signs such as
edema, erythema, and warmth. With involvement of the lower extremities, limp or refusal to

146
 walk is seen in approximately half of patients.
4. Focal tenderness over a long bone can be an important finding.
5. Long bones are principally involved in osteomyelitis.
6. Conditions causing pseudoparalysis include unrecognized trauma, transient (toxic) synovitis,
acute osteomyelitis, acute rheumatic fever, scurvy, and congenital syphilis (pseudoparalysis of
Parrot).

Diagnosis:

1. The diagnosis of osteomyelitis is clinical; blood cultures should be performed in all suspected
cases.
2. There are no specific laboratory tests for osteomyelitis.
3. The white blood cell count and differential, erythrocyte sedimentation rate (ESR), or
C-reactive protein (CRP) are generally elevated in children with bone infections but are
nonspecific.
4. Monitoring elevated ESR and CRP may be of value in assessing response to therapy or
identifying complications.
5. Depending on the results of imaging studies aspiration or biopsy of bone or subperiosteal
abscess for Gram stain, culture, and possibly bone histology provides the optimal specimen
for culture to confirm the diagnosis.

Imaging:

1. Plain radiograph - Within 72 hr of onset of symptoms of osteomyelitis, plain radiographs of the

involved site using soft-tissue technique and compared to the opposite extremity, if necessary, can
show displacement of the deep muscle planes from the adjacent metaphysis caused by deep-tissue
edema.
2. MRI is more sensitive than CT or radionuclide imaging in acute osteomyelitis and is the best
radiographic imaging technique for identifying abscesses and for differentiating between bone and
soft-tissue infection.
3. Radionuclide imaging can be valuable in suspected bone infections, especially early in the course
of infection and/or if multiple foci are suspected or an unusual site is suspected, as in the pelvis.

Antibiotic therapy:
The initial empirical antibiotic therapy is based on knowledge of likely bacterial pathogens at various
ages, the results of the Gram stain of aspirated material, and additional considerations.

In neonates, an antistaphylococcal penicillin, such as nafcillin or oxacillin (150-200 mg/kg/24 hr

divided q6h IV), and a broad-spectrum cephalosporin, such as cefotaxime (150-225 mg/kg/24 hr
147
divided q8h IV), provide coverage for the S. aureus, group B streptococcus, and gram-negative
bacilli.
If methicillin-resistant Staphylococcus is suspected, vancomycin is substituted for nafcillin.

Duration of antibiotic therapy is individualized depending on the organism isolated and clinical
course. For most infections including those caused by S. aureus, the minimal duration of antibiotics is
21-28 days, provided that the patient shows prompt resolution of signs and symptoms and the CRP
and ESR have normalized.

Surgical Therapy When frank pus is obtained from subperiosteal or

metaphyseal aspiration or is suspected based on MRI findings, a surgical drainage procedure is
usually indicated. Surgical intervention is also often indicated after a penetrating injury and when a
retained foreign body is possible.

Physical Therapy: The affected extremity should be kept in extension with

sandbags, splints, or, if necessary, a temporary cast. Casts are also indicated when there is a
potential for pathologic fracture. After 2-3 days, when pain is easing, passive range of motion
exercises are started and continued until the child resumes normal activity.

14. DIFFERENTIAL DIAGNOSIS OF TORTICOLLIS NACO-I

CONGENITAL
Osseous anomalies (Hemivertebra, unilateral atlanto-occipital fusion, Klippel-Feil
syndrome)
Soft tissue abnormalities (unilateral absence of sternocleidomastoid, pterygium colli)
ACQUIRED
Positional deformation or congenital muscular torticollis
Trauma (muscular injury, fractures)
Cervical instability (atlanto-occipital subluxation, atlantoaxial subluxation, subaxial
subluxation)
Atlantoaxial rotatory displacement
INFLAMMATION
Cervical lymphadenitis
Retropharyngeal abscess
Diskitis or vertebral osteomyelitis
Rheumatoid arthritis

NEUROLOGIC
Visual disturbances (nystagmus, superior oblique paresis)
Dystonic drug reactions (phenothiazines, haloperidol, metoclopramide)
Neoplasia (cervical spinal cord or posterior fossa tumor)
Chiari I malformation and/or syringomyelia
148
 Wilson disease
Dystonia
Spasmus nutans (nystagmus, head bobbing, head tilting)
OTHER

Sandifer syndrome (gastroesophageal reflux, hiatal hernia)

Benign paroxysmal torticollis of infancy
Bone tumors (eosinophilic granuloma)
Soft tissue tumor
Hysteria

15. Approach to hypopigmented patch

hypopigmented
lesions

Hypopigmention without surface Hypopigmention with surface with organ involvment

changes
changes

vitilligo p.Alba hypomelanosis of ito

nevus depigmentosus P.versicolor Tuberous sclerosus
topical steroid Hansen
PLE
post infla.

Congenital and Acquired Disorders of Hypopigmentation and Depigmentation:

149
Disorder Cong vs acq Hypo vs dep Clinical features
Piebaldism Cong dep Autosomal dominant inheritance

Leukoderma of frontal scalp, White forelock

Special variants includes Waardenburg syndrome,

associated with sensorineural deafness

Within areas of depigmentation, may have areas

of normal or hyperpigmentation
Nevus Cong hypo Well-circumscribed hypopigmented patch (not
depigmentosis depigmented as the name suggests)

Usually present at birth or early infancy

Wood lamp examination may aid in diagnosis

Hypomelanosis Cong hypo Whorls or streaks of hypopigmentation that
of Ito follow lines of blaschko
No evidence
Both sexes of genetic Usually present at birth or manifests within first
equally transmission year of life
affected
Possible systemic associations include CNS,
eye and musculoskeletal abnormalities
Nevus Cong hypo Asymptomatic. Often unilateral on trunk
anemicus
Rubbing or temperature change causes erythema
of surrounding skin
Ash leaf spot Cong hypo Often present at birth

Wood lamp examination may aid in the diagnosis

Atleast 3 must be present to meet one criteria for

tuberous sclerosis

Full examination for other signs of tuberous

sclerosis
Pityriasis alba Acq Hypo Post inflammatory hypopigmentation

Poorly demarcated, hypopigmented, slightly

scaly patches often located on the cheeks

Repigmentation usually occurs

Vitiligo Acq Dep Complete loss of pigment in involved areas

Symmetric May be segmental/ non segmental in

lesions distribution
Puva
Topical therapy Hyperpigmentation may be present at borders of
steroids, lesion
topical Avoid
tacrolimus sunexposure Infrequently associated with autoimmune
pimercolimus disorders, including hypothyroidism
150
albinism

16. CLASSIFICATION OF CHILDHOOD VASCULITIS

I. PREDOMINANTLY LARGE VESSEL VASCULITIS

• Takayasu arteritis
II. PREDOMINANTLY MEDIUM VESSEL VASCULITIS
• Childhood polyarteritis nodosa
• Cutaneous polyarteritis nodosa
• Kawasaki disease
III. PREDOMINANTLY SMALL VESSEL VASCULITIS
A Granulomatous:
• Wegener granulomatosis
• Churg-Strauss syndrome
B Nongranulomatous:
• Microscopic polyangiitis
• Henoch-Schonlein purpura
• Isolated cutaneous leukocytoclastic vasculitis
• Hypocomplementemic urticarial vasculitis
IV. OTHER VASCULITIDES
• Behcet disease
• Vasculitis secondary to infection (including hepatitis B–associated polyarteritis nodosa),
malignancies, and drugs, including hypersensitivity vasculitis
• Vasculitis associated with connective tissue disease
• Isolated vasculitis of the central nervous system
• Cogan syndrome
• Unclassified

17. CHARACTERISTICS OF CUTANEOUS SIGNS OF SYSTEMIC DISEASES

DIAGNOSTIC ASSOCIATED
AGE OF SKIN DISTRIBUT
DISEASE EVALUATION(S) SYMPTOMS/SI
ONSET LESIONS ION
AND FINDINGS GNS
Erythematous
ANA panel
patches;
palpable Anti–double-strand
purpura; livedo ed DNA Arthritis
Systemic Leukopenia/lymph Nephritis
reticularis; Photodistribut
lupus openia
Any Raynaud ion; “malar” Cerebritis
erythematos
phenomenon; face Thrombocytopenia Serositis
us
thrombocytopen Complement levels
ic and
Urinalysis
nonthrombocyto
penic purpura
Discoid Adolesce Annular, scaly Photodistribut ANA Scarring

151
 DIAGNOSTIC ASSOCIATED
AGE OF SKIN DISTRIBUT
DISEASE EVALUATION(S) SYMPTOMS/SI
ONSET LESIONS ION
AND FINDINGS GNS
lupus nce plaques; ion
atrophy;
dyspigmentation
Annular, Photodistribut ANA Heart block
Neonatal Newborn
erythematous, ion; Anti-Ro Thrombocyto
lupus to 6 mo
scaly plaques head/neck penia
Periocular ANA Proximal
Erythematous to
face; shoulder Jo-1 antibody muscle
violaceous scaly,
Juvenile girdle; weakness
macules; Aldolase
dermatomyo Any extensor
discrete papules Creatine kinase Calcifications
sitis extremities;
overlying Lactate Vasculopathy
knuckles;
knuckles dehydrogenase
palms
Urinalysis
Childhoo Abdominal
Henoch-Sch Buttocks; Blood urea pain
d and Purpuric papules
onlein lower nitrogen/creatinine
adolescen and plaques Arthritis
purpura extremities ratio
ce
Skin biopsy
Erythematous Strawberry
maculopapular Leukocytosis tongue
to urticarial ESR Conjunctivitis
Infancy,
Kawasaki plaques; acral
childhoo Diffuse C-reactive protein Lymphadenopa
disease and groin
d Thrombocytosis thy
erythema,
edema, Cardiovascular
desquamation complications
Aphthae; Abdominal
erythema ESR pain
Childhoo
Inflammator nodosum; Oral ulcers; Thrombocytosis Diarrhea
d and
y bowel pyoderma perianal Radiographic
adolescen Cramping
disease gangrenosum; fissures abnormalities
ce Arthritis
thrombophlebiti
s Conjunctivitis
Infiltrated Skin biopsy Fever
Sweet erythematous, Leukocytosis Flulike illness
Any Diffuse
syndrome edematous
plaques ESR Conjunctivitis
Acute: Head and Skin biopsy Fever
Graft versus erythema, neck; Mucositis
Any Liver function
host disease papules, palms/soles;
vesicles, bulla diffuse Hepatitis

Erythema; Liver function Perioral edema

Hypersensiti urticarial Eosinophilia Lymphadenopa
Any Diffuse
vity reaction macules and Atypical thy
plaques lymphocytosis Fever
152
 DIAGNOSTIC ASSOCIATED
AGE OF SKIN DISTRIBUT
DISEASE EVALUATION(S) SYMPTOMS/SI
ONSET LESIONS ION
AND FINDINGS GNS
Hepatitis
Fever
Serum Lymphadenopa
Edematous,
sickness–lik Any Acral; diffuse ESR thy
purpuric plaques
e reaction Arthritis,
nephritis
ANA, antinuclear antibodies; ESR, erythrocyte sedimentation rate

18. Atopic dermatitis:

Atopic dermatitis (AD), or eczema, is the most common chronic relapsing skin disease seen in
infancy and childhood. Frequently occurs in families with other atopic diseases, such as asthma,
allergic rhinitis, and food allergy.
Etiology:

AD is a complex genetic disorder that results in a defective skin barrier, reduced skin innate
immune responses, and exaggerated T-cell responses to environmental allergens and microbes that
lead to chronic skin inflammation.

Pathogenesis:

Two forms of AD have been identified. Atopic eczema is associated with IgE-mediated sensitization
(at onset or during the course of eczema) and occurs in 70-80% of patients with AD. Nonatopic
eczema is not associated with IgE-mediated sensitization and is seen in 20-30% of patients with AD.
Both forms of AD are associated with eosinophilia.

Clinical features:

AD is diagnosed on the basis of 3 major features: pruritus, an eczematous dermatitis that fits into a
typical presentation, and a chronic or chronically relapsing course. Associated features,
such as a family history of asthma, hay fever, elevated IgE, and immediate skin test reactivity, are
variably present.

Triggering factors: Foods (cow milk, egg, peanut, soy, wheat, fish, shellfish), inhalant allergens,
bacterial infection, reduced humidity, excessive sweating, and irritants (wool, acrylic, soaps, toiletries,
fragrances, detergents) can exacerbate (trigger) pruritus and scratching.

Laboratory Findings:

There are no specific laboratory tests to diagnose AD. Many patients have peripheral blood
eosinophilia and increased serum IgE levels. Serum IgE measurement or prick skin testing can
identify the allergens to which patients are sensitized

Treatment: The treatment of AD requires a systematic and multifaceted approach.

1. Bathing and moisturization - Lukewarm soaking baths for 15-20 min followed by the application
of an occlusive emollient to retain moisture provide symptomatic relief.

2. Topical Corticosteroids-- Topical corticosteroids are the cornerstone of anti-inflammatory

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treatment.

3. Topical Calcineurin inhibitors—Pimecrolimus in mild to moderate AD and Tacrolimus in mod to

severe AD.

4. Tar preparations 5. Antihistamines 6. Systemic steroids

7. avoid triggering factors 8. treat superinfection

9. Phototherapy Natural sunlight is often beneficial to patients with AD as

long as sunburn and excessive sweating are avoided. Phototherapy is generally reserved for patients
in whom standard treatments fail.

10. Other- omalizumab, interferon γ, allergen immunotherapy, Probiotics, Chinese herbal medicines
and antimetabolites.

Prevention:
1. Breast-feeding or a feeding with a hypoallergenic hydrolyzed formula may be beneficial.

2. Avoid/ eliminate triggering factors

3. Maintain adequate hydration of skin.

19. Approach to a limping child:

Most cases of limp are transient and may improve with time without any specific treatment.
Diseases causing tenderness, weakness or asymmetry of the weight bearing apparatus, result in a
limping gait.

Common conditions resulting in a limp:

1. NEUROMUSCULAR diseases:

 Paralysis of muscles- poliomyelitis and traumatic neuritis

 Hemiplegia
 Myopathies and muscular dystrophies
 Hemi hypertrophy of muscles
 Cerebral palsy

2. Disorders of bones and joints:

 HIP - CDH, pyogenic arthritis, transient synovitis, trauma, rickets, slipped epiphysis, perthes
disease

 KNEE and ANKLE: Tb, rheumatoid arthritis, transient synovitis, trauma and osteochondritis

 FOOT- painful lesions of the nail, toes and soles (warts, corns, blisters, paronychial, fracture)
Ill fitting shoes, osteochondritis

 SPINE- Tb, scoliosis and congenital defects

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3. Bone tumours both benign and malignant

Approach:
History should include the following

CHARACTERIZATION OF PAIN AND PRESENTING SYMPTOM

Age of presentation
Location: Whether pain is localized to a particular segment or involves a larger area.
Intensity: Usually on a pain scale of 1 to 10.
Quality: Tumor pain is often unrelenting, progressive, and often present during the night.
Pain at night particularly suggests osteoid osteoma. Pain in inflammation and infection is
usually continuous.
Onset: Was it acute and related to specific trauma or was it insidious? Acute pain and
history of trauma are more commonly associated with fractures.
Duration: Whether transient, only lasting for minutes, or lasting for hours or days. Pain
lasting for longer than 3-4 wk suggests a serious underlying problem.
Progress: Whether static, increasing, or decreasing.
Radiation: Pain radiating to upper or lower extremities or complaints of numbness, tingling,
or weakness require appropriate work-up.
Aggravating factors: Relationship to any activities such as swimming or diving or any
particular position.
Alleviating factors: Is the pain relieved by rest, heat, and/or medication?
Gait and posture: Disturbances associated with pain.

Examination should help to localise the cause of limp:

1. Child with painful knee will try to walk with extended knee.
2. In spinal disease, trunk is held rigidly.
3. With septic arthritis one would refuse to walk
4. In legg calve perthes disease- trendlenburg gait
5. In neuromuscular disorders look for atrophy, asymmetry and torsion of muscles

20. DIFFERENTIATION OF LEG BOWING

PHYSIOLOGIC BOWING BLOUNT DISEASE

Gentle and symmetric deformity Asymmetric, abrupt, and sharp angulation

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PHYSIOLOGIC BOWING BLOUNT DISEASE

Metaphyseal-diaphyseal angle <11 degrees Metaphyseal-diaphyseal angle >11 degrees

Medial sloping of the epiphysis
Normal appearance of the proximal
Widening of the physis
tibial growth plate
Fragmentation of the metaphysis
No significant lateral thrust Significant lateral thrust

Classification of genu varum - bow legs

1. Physiologic
2. Asymmetric growth
 Tibia vara (blount disease)
 Focal fibrocartilagenous dysplasia
 Trauma
 Infection
 Tumour
 Physeal injury
3. Metabolic disorders
 Nutritional (vit D deficiency) rickets
 Vitamin D resistant rickets
 Hypophosphatasia
4. Skeletal dysplasia
 Metaphyseal dysplasia
 Achondroplasia
 Enchondromatosis

Causes of back pain:

1. Inflammatory/ infectious- diskitis, vertebral osteomyelitis, spinal epidural abscess,
pyelonephritis, pancreatitis
2. Rheumatological- juvenile rheumatoid arthritis, reiter syndrome, ankylosing spondylitis,
psoriatic arthritis
3. Developmental- spondylolysis, spondylolisthisis, scoliosis
4. Traumatic
5. Neoplastic – benign and malignant tumours of verterbra

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 6. Spinal cord, ganglia and nerve roots
7. Others- following LP
21. Hyperpigmentation
Freckles Acquired Small, tan to brown, 1- to 5-mm macules
Increase in number and pigmentation in summer and spring
during exposure to sunlight
Seen in fair-skinned individuals in sun-exposed areas
Lentigines Acquired Uniform, dark, brown/black 2- to 5-mm macules
No seasonal variation or change with sun exposure
Involve any part of the body, including mucous membranes
Café au lait Congenital/ May be seen at birth or later in life
acquired
spots Tan to brown discrete macules or patches; usually round or oval
Six or more lesions larger than 5 mm in prepubertal persons and
larger than 15 mm in postpubertal persons to meet criteria for
neurofibromatosis
Neurofibromatosis lesions: smooth, well-demarcated borders
resembling “coast of California”
McCune-Albright syndrome: larger lesions with more jagged,
not as well-demarcated borders resembling “coast of Maine”
Mongolian Congenital Brown, blue-gray patches often seen in the lower trunk and
spot lumbosacral area.
Usually fades later in life
Benign with no known extracutaneous findings
Nevus of Ota Congenital/ 50% present at birth, 50% during second decade
acquired Unilateral blue-gray pigmentation in trigeminal nerve
distribution
May increase in size and color with time
Nevus of Ito Congenital/ Patchy blue-gray pigmentation of shoulder, supraclavicular area
acquired and deltoid areas
May increase in size and color with time
Nevus spilus Congenital/ Well-demarcated, hyperpigmented patch with smaller, darker
Patch within acquired macules and papules within larger patch
May look like a “chocolate chip cookie”
a patch
Small risk of malignant transformation; follow clinically
Congenital Congenital Tan, brown/dark brown macules, patches, or plaques seen at
melanocytic birth or early infancy
Variable color and texture

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nevus Small (<2 cm), medium (2-20 cm), large (>20 cm)
Large or multiple (>3) nevi carry risk of neurocutaneous
melanosis or melanoma
Acquired Acquired May start as hyperpigmented macules
melanocytic Peaks in number during 2nd-3rd decade of life
Abnormalities in color, borders, size, symmetry may suggest
nevi
malignant transformation
Melanoma Acquired Variegation in color, texture or border of congenital and acquired
melanocytic nevus
Rare in childhood; risk correlated with family history and sun
exposure in childhood

AUTOANTIBODY SPECIFICITY AND DISEASE ASSOCIATIONS

ANTIBODY DISEASE SPECIFICITY

Associated with increased risk of
uveitis in JIA and psoriatic
SLE, juvenile rheumatoid arthritis,
Antinuclear antibody arthritis
dermatomyositis, scleroderma,
(ANA) Up to 30% of children testing
psoriatic arthritis, MCTD
positive for ANAs have no
underlying rheumatic disease
Double-stranded DNA High specificity for SLE;
SLE
(dsDNA) associated with lupus nephritis
Highly specific for SLE;
Smith (Sm) SLE
associated with lupus nephritis
Smooth muscle (Sm) Autoimmune hepatitis —
Pm-Scl
(polymyositis-sclerode Sclerodermatomyositis —
rma)
Associated with neonatal lupus
SSA (Ro) SLE, Sjogren syndrome
syndrome,
SSB (La) SLE, Sjogren syndrome
Ribonuclease protein
MCTD, SLE
(RNP)
Histone Drug-induced lupus, SLE —
Centromere Limited cutaneous systemic sclerosis
Topoisomerase I
Systemic sclerosis
(Scl-70)
158
 ANTIBODY DISEASE SPECIFICITY
Antineutrophil
cytoplasmic antibodies Vasculitis —
(ANCAs):
Cytoplasmic cANCAs associated with
(cANCAs) Wegener granulomatosus,
pANCAs associated with
Perinuclear (pANCAs) microscopic polyangiitis,
polyarteritis nodosa, SLE,
READ ALSO 2 TABLES IN NELSON REGARDING MULTIDISCIPLANRY APPROACH AND
VARIOUS DRUGS USED IN CTD

Henoch-Schonlein Purpura:
Henoch-Schonlein purpura (HSP) is the most common vasculitis of childhood and is characterized
by leukocytoclastic vasculitis and immunoglobulin (Ig) A deposition in the small vessels in the
skin, joints, gastrointestinal tract, and kidney.
Epidemiology:
HSP affects males more than females. Approximately 90% of HSP cases occur in children, usually
between the ages of 3 and 10 yr. HSP is more common in the fall, winter, or spring and is unusual
in summer months. Many cases of HSP follow a documented upper respiratory infection.

Pathogenesis:
The exact pathogenesis of HSP remains unknown. Given the frequency of preceding upper
respiratory infections, including group A streptococcal infections, an infectious trigger is suspected.
Skin biopsies demonstrate vasculitis of the dermal capillaries and postcapillary venules. In all tissues,
immunofluorescence identifies IgA deposition in walls of small vessels, accompanied to a lesser
extent by deposition of C3, fibrin, and IgM.

Clinical Manifestations:
1. The hallmark of HSP is its rash: palpable purpura starting as pink macules or wheals and
developing into petechiae, raised purpura, or larger ecchymoses. The skin lesions are usually
symmetric and occur in gravity-dependent areas (lower extremities) or on pressure points
(buttocks). The skin lesions often evolve in groups, typically lasting 3-10 days, and may recur up to
4 mo after initial presentation. Subcutaneous edema localized to the dorsa of hands and feet,
periorbital area, lips, scrotum, or scalp is also common.
2. Musculoskeletal involvement, including arthritis and arthralgias. The arthritis tends to be
self-limited and oligoarticular, with a predilection for the lower extremities, and does not lead to
deformities.

159
3. Gastrointestinal manifestations of HSP occur in up to 80% of children with HSP. They include
abdominal pain, vomiting, diarrhea, paralytic ileus, melena, intussusception, and mesenteric ischemia
or perforation.
4. Renal involvement occurs in up to 50% of children with HSP, manifesting as hematuria,
proteinuria, hypertension, frank nephritis, nephrotic syndrome, and acute or chronic renal failure.
5. Neurologic manifestations of HSP, due to hypertension or central nervous system (CNS) vasculitis,
may also occur. They include intracerebral hemorrhage, seizures, headaches, and behavior changes.
6. Other less common potential manifestations of HSP are orchitis, carditis, inflammatory eye
disease, testicular torsion, and pulmonary hemorrhage.

Diagnosis:CLASSIFICATION CRITERIA FOR HENOCH-Schonlein PURPURA

AMERICAN COLLEGE OF RHEUMATOLOGY CLASSIFICATION CRITERIA
Two of the following criteria must be present:
• Palpable purpura
• Age at onset ≤20 yr
• Bowel angina (postprandial abdominal pain, bloody diarrhea)
• Biopsy demonstrating intramural granulocytes in small arterioles and/or venules
Differential diagnosis: acute hemorrhagic edema (The younger age, the nature of the lesions,
absence of other organ involvement, and a biopsy may help distinguish AHE from HSP)
Laboratory diagnosis:
1. No laboratory finding is diagnostic of HSP.
2. Common but nonspecific findings include leukocytosis, thrombocytosis, mild anemia, and
elevations of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP).
3. Occult blood is frequently found in stool specimens.
4. Assessment of renal involvement with blood pressure, urinalysis, and serum creatinine is
necessary.
5. Ultrasound is often used in the setting of gastrointestinal complaints to look for bowel wall
edema or the rare occurrence of an associated intussusception.
6. Barium enema can also be used to both diagnose and treat intussusception.
7. Although often unnecessary in typical HSP, biopsies of skin and kidney can provide
important diagnostic information, particularly in atypical or severe cases, and
characteristically show IgA deposition in affected tissues.
Treatment:
Treatment of HSP is supportive, with an emphasis on assuring adequate hydration,
nutrition, and analgesia.

 Steroids are most often used to treat significant gastrointestinal involvement or other
160
 life-threatening manifestations. Empiric use of prednisone (1 mg/kg/day for 1 to 2 wk,
followed by taper) reduces abdominal and joint pain but does not alter overall prognosis nor
prevent renal disease.
 Other drugs: IVIG, plasma exchange, immunosuppressants, including azathioprine,
cyclophosphamide, and mycophenolate mofetil.

Complications:

GIT- Intestinal perforation

Renal- Renal disease is the major long-term complication, occurring in 1-2% of children with
HSP. It is recommended that children with HSP undergo serial monitoring of blood pressure
and urinalyses for 6 mo after diagnosis, especially those who presented with hypertension or
urinary abnormalities. End-stage renal disease develops in up to 8% of children with HSP
nephritis.

Prognosis:

Overall, the prognosis for childhood HSP is excellent, and most children experience an acute,
self-limited course. About 30% of children with HSP experience one or more recurrences, typically
within 4-6 mo of diagnosis. With each relapse, symptoms are usually milder than at presentation.

161
 METABOLIC
1. Carbohydrate metabolism
a.FEATURES OF THE DISORDERS OF CARBOHYDRATE METABOLISM
i. Liver glycogenoses
ii. Muscle glycogenoses
2. Type I Glycogen Storage Disease (Glucose-6-Phosphatase or Translocase Deficiency, Von
Gierke Disease)

3. MPS

4. gout

1. FEATURES OF THE DISORDERS OF CARBOHYDRATE METABOLISM

Liver glycogenoses (1 3 4 6)

DISORDERS BASIC DEFECTS CLINICAL PRESENTATION

Glucose-6-phosphata Growth retardation, hepatomegaly, hypoglycemia; elevated
Ia/Von Gierke se in liver, kidney blood lactate, cholesterol, triglyceride, and uric acid levels.
and intestine Intermittent diarrhea, PCOD in females
Glucose-6-phosphate Same as type Ia, with additional findings of neutropenia and
Ib
translocase impaired neutrophil function
Childhood: hepatosplenomegaly, growth retardation, muscle
Liver and muscle weakness, hypoglycemia, hyperlipidemia, elevated
IIIa/Cori or
debrancher transaminase levels;
Forbes
deficiency liver symptoms can progress to liver failure later in life. Liver
biopsy shows fibrosis
Liver debrancher
deficiency; normal
IIIb Liver symptoms same as in type IIIa; no muscle symptoms
muscle enzyme
activity
IV/Andersen so Failure to thrive, hypotonia, hepatosplenomegaly, progressive
remember 4 Branching enzyme cirrhosis (death usually before 5th yr), elevated transaminase
features levels. No hypoglcemia
Hepatomegaly, typically mild hypoglycemia, hyperlipidemia, and
VI/Hers Liver phosphorylase
ketosis

Muscle glycogenoses: (2 5 7)
Cardiomegaly, hypotonia, hepatomegaly; onset: birth to 6 mo. Specific
II/Pompe Acid α-glucosidase
enzyme replacement therapy (ERT) with recombinant human acid
Infantile (acid maltase)
α-glucosidase (alglucosidase alfa, [Myozyme]) is available

Acid α-glucosidase
Juvenile Myopathy, variable cardiomyopathy; onset: childhood
(acid maltase)

Acid α-glucosidase
Adult Myopathy, respiratory insufficiency; onset: adulthood
(acid maltase)

162
V/McArdle Myophosphorylase Exercise intolerance, muscle cramps, increased fatigability
Exercise intolerance, muscle cramps, hemolytic anemia,
VII/Tarui Phosphofructokinase
myoglobinuria

2. Type I Glycogen Storage Disease (Glucose-6-Phosphatase or Translocase Deficiency, Von

Gierke Disease)

Type I GSD an autosomal recessive disorder, is caused by the absence or deficiency of

glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa.

Clinical Manifestations:

1. GENERAL: These children often have doll-like faces (cherubic appearance) with fat
cheeks, relatively thin extremities, short stature, and a protuberant abdomen that is due to
massive hepatomegaly; the kidneys are also enlarged, whereas the spleen and heart are normal
2. GIT: Intermittent diarrhea.
3. BLOOD: Easy bruising and epistaxis may occur in GSD I.
4. OVARIES: Virtually all females have ultrasound findings consistent with polycystic ovaries;
5. Symptoms of gout usually start around puberty from long-term hyperuricemia.
6. PANCREAS: Secondary to the lipid abnormalities, there is an increased risk of pancreatitis.
7. BONE: Frequent fractures and radiographic evidence of osteopenia are common.
8. LIVER: By the 2nd or 3rd decade of life, most patients with type I GSD exhibit hepatic
adenomas that can hemorrhage and, in some cases, become malignant.
9. LUNG: Pulmonary hypertension has been seen in some long-term survivors of the disease.
10. KIDNEY: Renal disease is another complication, and most patients with type I GSD who are
>20 yr of age have proteinuria. Many also have hypertension, renal stones,
nephrocalcinosis, and altered creatinine clearance.

Diagnosis:
1. The diagnosis of type I GSD is suspected on the basis of clinical presentation and the
laboratory findings of hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.
Neutropenia is noted in GSD Ib patients, typically after the 1st 2-3 yr of life.

2. Gene-based mutation analysis provides a noninvasive way of diagnosis for most patients
with types Ia and Ib disease.
3. The histologic appearance of the liver is characterized by a universal distention of
hepatocytes by glycogen and fat. The lipid vacuoles are particularly large and prominent.
There is little associated fibrosis.

Treatment: Treatment is designed to maintain normal blood glucose levels and is achieved
by continuous nasogastric infusion of glucose or oral administration of uncooked cornstarch.

1. Frequent feedings with high-carbohydrate content are given during the day.
2. Uncooked cornstarch acts as a slow-release form of glucose and can be introduced at a dose
of 1.6 g/kg every 4 hr for infants <2 yr of age. The response of young infants is variable. As
the child grows older, the cornstarch regimen can be changed to every 6 hr at a dose of
1.75-2.5 g/kg of body weight.
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 3. Restrict fructose, sorbitol, sucrose, lactose and galactose.
4. For hyperuricemia -allopurinol
5. For
hyperlipidemia- HMG-CoA reductase inhibitors and fibrate.
6. Microalbuminuria-is treated with angiotensin-converting enzyme (ACE) inhibitors.
7. Growth hormone should be used with extreme caution.
8. In patients with type Ib GSD, granulocyte and granulocyte-macrophage colony–stimulating
factors.
9. Smaller adenomas (<2 cm) percutaneous ethanol injection or transcatheter arterial
embolization.
10. Large adenomas (>2 cm) may require partial hepatic resection.
11. Orthotropic liver transplantation is a potential cure of type I GSD.

Prognosis:
1. Previously, the prognosis was guarded for those who survived.
2. Early diagnosis and effective treatment have improved the outcome.
3. Renal disease and formation of hepatic adenomas with potential risk for malignant
transformation remain serious complications.

3. Mucopolysacchridosis:

Defective
eponym Clinical features Stored material
enzyme
C corneal clouding
H hearing loss,
I- hydrocephalus
H U dysostosis multiplex
Pfaundler-Hurl α-L-Iduronida Derman sulfate
R oar shaped ribs and
er Severe form se heparan sulfate
Ovoid shaped vertebral bodies
L limited learning
E enlarged ventricles
R recurrent URI
S Joint Stiffness
O onset after > 5 years of
age
I- Scheie N normal intelligence α-L-Iduronida Derman sulfate
S Milder form and stature se heparan sulfate
E (eye) corneal clouding,
glaucoma
A aortic valve disease
Hurler-Scheie M micrognathia
I-
intermediate S spondylolisthisis α-L-Iduronida Derman sulfate
H
type D dysostosis multiplex se heparan sulfate
S
C cord compression

164
 Defective
eponym Clinical features Stored material
enzyme
C corneal clouding
H hearing loss,
I- hydrocephalus
H U dysostosis multiplex
Pfaundler-Hurl α-L-Iduronida Derman sulfate
R oar shaped ribs and
er Severe form se heparan sulfate
Ovoid shaped vertebral bodies
L limited learning
E enlarged ventricles
R recurrent URI
Severe course similar to I-H but
clear corneas. Mild course: less
pronounced features, later
manifestation, survival to
Hunter Iduronate
adulthood with mild or no Derman sulfate
II X- linked sulfate
mental deficiency. heparan sulfate
recessive sulfatase
C chronic diarrhoea
C carpal tunnel syndrome
Grouped skin papules are present
in some patients
AB aggressive behavior
CC coarse hair, clear corneas
D D progressive dementia,
III mild Heparan-S-sul
Sanfilippo A Heparan sulfate
-A dysmorphism, famidase
S S sleeping disorder,
survival to
adulthood possible
Heparan sulfate
III N-Ac-α-gluco
Sanfilippo B
-B saminidase

Heparan sulfate
Ac-CoA-gluco
III
Sanfilippo C saminide-N-ac
-C
etyltransferase

Heparan sulfate
N-Ac-glucosa
III
Sanfilippo D minine-6-sulfa
-D
te sulfatase

C fine corneal opacities

S short-trunk dwarfism
N-Ac-galactos
IV F final height <125 cm
Morquio A amine-6-sulfat Keratin sulfate
-A B characteristic bone
e sulfatase
dysplasia
P Preservation of intelligence
Same as IV-A, but milder;
IV β-Galactosida
Morquio B adult height >120 cm Keratin sulfate
-B se
Preservation of intelligence

165
 Defective
eponym Clinical features Stored material
enzyme
C corneal clouding
H hearing loss,
I- hydrocephalus
H U dysostosis multiplex
Pfaundler-Hurl α-L-Iduronida Derman sulfate
R oar shaped ribs and
er Severe form se heparan sulfate
Ovoid shaped vertebral bodies
L limited learning
E enlarged ventricles
R recurrent URI
Hurler phenotype but normal N-Ac-galactos
intelligence -amine-α-4-su
Maroteaux-La
VI 4c corneal clouding cardiac lfate sulfatase Dermatan sulfate
my
disease, cord compression (arylsulfatase
communicating hydrocephalus B)
Varying from fetal hydrops to
VI β-Glucuronida Derman sulfate
Sly(seven) mild dysmorphism; dense
I se heparan sulfate
inclusions in granulocytes

Hyaluronidase Periarticular masses, normal

IX Hyaluronidase
def intelligence

4. GOUT:
Gout is associated with hereditary disorders in three different enzyme disorders that result in
hyperuricemia. These include the severe form of hypoxanthine-guanine phosphoribosyltransferase
(HPRT) deficiency (Lesch-Nyhan disease) and partial HPRT deficiency and glycogen storage disease
type I (glucose-6-phosphatase deficiency).

166
 GENETICS
1. Genetic counselling
2. Cytogenetics/ fish
3. Dysmorphology – sagar sir notes endocrinology
4. Modes of inheritance
5. Gene therapy and also my notes (black and white crane classmate note book)
6. Enzyme replacement
7. Mitochondrial inheritance
8. Chromosomal abnormalities--------iap text book
9. Mutations iap text book
10. Downs syndrome------ muthuram sir notes
11.

1. Genetic counselling:
Genetic counselling is a communication process in which the genetic contribution to health is
explained, along with specific risks of transmission of a trait and options to manage the condition and
its inheritance.
INDICATIONS FOR GENETIC COUNSELING
1. Advanced parental age
• Maternal age ≥35 yr
• Paternal age ≥50 yr
2. Previous child with or family history of
• Congenital abnormality
• Dysmorphology
• Mental retardation
• Isolated birth defect
• Metabolic disorder
• Chromosome abnormality
• Single-gene disorder
3. Adult-onset genetic disease (pre symptomatic testing)
• Cancer
• Huntington disease
4. Consanguinity
5. Teratogen exposure (occupational, abuse)
6. Repeated pregnancy loss or infertility
7. Pregnancy screening abnormality
• Maternal serum α-fetoprotein
• Maternal triple or quad screen or variant of this test
• Fetal ultrasonography
• Fetal karyotype
8. Heterozygote screening based on ethnic risk
• Sickle cell anemia
• Tay-Sachs, Canavan, Gaucher
167
 diseases
• Thalassemia
9. Follow-up to abnormal neonatal genetic testing

Genetic Counselling (remember total 9 points)

Providing accurate information to families requires
A) Specific Condition or Conditions
If a specific diagnosis is made and confirmed, that should be discussed with the family and
information should be provided in writing. However, often the disorder fits into a spectrum (e.g., one
of many types of arthrogryposis) or the diagnosis is clinical rather than laboratory based. In those
situations, the family needs to understand the limits of present knowledge and that additional
research will probably lead to better information in the future.
B) Knowledge of the Diagnosis of the Particular Condition
Although it is not always possible to make an exact diagnosis, having a diagnosis as accurate as
possible is important. When a specific diagnosis cannot be made (as in many cases of multiple
congenital anomalies), the various possibilities in the differential diagnosis should be discussed
with the family and empirical information should be provided.
C) Natural History of the Condition
It is very important to discuss the natural history of the specific genetic disorder in the family.
Affected persons and their families have questions regarding the prognosis and potential therapy
that can be answered only with knowledge of the natural history. If there are other possible diagnoses,
their natural history may also be discussed. If the disorder is associated with a spectrum of clinical
outcomes or complications, the worst and best scenarios, as well as treatment and referral to the
appropriate specialist, should be addressed.
D) Genetic Aspects of the Condition and Recurrence Risk
The genetic aspects and risk of recurrence are important because all family members need to be
aware of their reproductive choices. The genetics of the disorder can be explained with visual aids
(e.g., diagrams of chromosomes). It is important to provide accurate occurrence and recurrence
risks for various members of the family, including unaffected individuals. Counselling should give
patients the necessary information to understand the various options and let the patients make their
own informed decisions regarding pregnancy, adoption, artificial insemination, prenatal diagnosis,
screening, carrier detection, and termination of pregnancy. It may be necessary to have more than 1
counselling session.
E) Prenatal Diagnosis and Prevention
Many different methods of prenatal diagnosis are available, depending on the specific genetic
disorder. The use of ultrasonography allows prenatal diagnosis of anatomic abnormalities such as
congenital heart defects. Amniocentesis and chorionic villous sampling are used to obtain fetal
tissue for analysis of chromosomal abnormalities, biochemical disorders, and DNA studies.
Maternal blood or serum sampling is used for some types of screening. Fetal cells can be retrieved
from the umbilical cord or from maternal blood (free fetal DNA) for testing, although mothers might
harbour cells from all previous pregnancies.
F) Therapies and Referral
A number of genetic disorders require the care of a specialist. Girls with Turner syndrome usually
need to be evaluated by an endocrinologist. Prevention of known complications is a priority. The
psychologic adjustment of the family might require specific intervention. When to discuss the
diagnosis of a chronic disease with the patient is always a difficult decision. The decision to do so
should always involve the parents and an assessment of the maturity and capacity of the child or
adolescent.
Alternative medicines or non-traditional therapies are often brought to attention by parents after
exhaustive Internet searches. Such treatments should not necessarily be dismissed out of hand
because the physician and counsellor should serve as an important resource for helping parents
navigate the maze of nonstandard treatments. Instead, the relative merits of treatments should be

168
framed in the context of cost and benefit, scientific rationale, evidence from controlled and/or
observational studies, the placebo effect, safety of the treatment, and the gaps on our own scientific
knowledge base.
G) Support Groups
A large number of community lay support groups have been formed to provide information and to
fund research on specific genetic and non genetic conditions. An important part of genetic
counselling is to give information about these groups to patients and to suggest a contact person for
the families. Many groups have established websites with very helpful information.
H) Follow-up
Families should be encouraged to continue to ask questions and keep up with new information about
the specific disorder. New developments often influence the diagnosis and therapy of specific
genetic disorders. Lay support groups are a good source of new information.
I) Nondirective Counselling
Genetic counselling is usually nondirective; choices about reproduction are left to the family to
decide what is right for them. The role of the counsellor (physician, genetic counsellor, nurse,
medical geneticist) is to provide information in understandable terms and outline the range of options
available.

2. Cytogenetics: Clinical cytogenetics is the study of chromosomes: their structure, function,

inheritance, and abnormalities.
Chromosome analyses are indicated in persons presenting with
1. Multiple congenital anomalies, dysmorphic features, and/or mental retardation with or without
associated anatomic abnormalities.
2. Advanced maternal age (>35 yr)
3. Multiple abnormalities on fetal ultrasound (prenatal testing), multiple congenital anomalies,
unexplained growth retardation in the fetus.
4. Postnatal problems in growth and development
5. Ambiguous genitalia
6. Primary amenorrhea or infertility, recurrent miscarriages (≥3) or prior history of stillbirths and
neonatal deaths
7. A 1st-degree relative with a known or suspected structural chromosome abnormality
8. Clinical findings consistent with a known anomaly, some malignancies, and chromosome breakage
syndromes (Bloom syndrome, Fanconi anemia).
Cytogenetic studies are usually performed on
1. Peripheral blood lymphocytes, although cultured fibroblasts may also be used.
2. Prenatal (fetal) chromosome studies are performed with cells obtained from the amniotic fluid,
chorionic villus tissue, and fetal blood.
3. Preimplantation diagnosis, by analysis of a blastomere.
4. Cytogenetic studies of bone marrow have an important role in tumor surveillance, particularly
among patients with leukemia.
Methods:
Karyotyping - Banding (G, Q, C, R)
Molecular cytogenic techniques: FISH, Genomic array hybridization studies, Spectral
karyotyping (SKY), multicolour FISH (M-FISH), RFLP, Linkage analysis and Comparative genomic
hybridization (CGH).
FISH:

169
Fluorescence in situ hybridization (FISH) involves

Denaturation of double-stranded DNA as present in metaphase chromosomes or interphase nuclei on

cytogenetic slide preparations (A) into single-stranded DNA (B).

The slide-bound (in situ) DNA is then renatured or reannealed in the presence of excess copies of a
single-stranded, fluorochrome-labeled DNA base-pair sequence or probe (C).

The probe anneals or “hybridizes” to sites of complementary DNA sequence (D) within the
chromosomal genome.

Probe signal is visualized and imaged on the chromosome by fluorescent microscopy.

Advantages: FISH can reliably detect deletions as small as 50 to 200 kb of

DNA. This has allowed the clinical characterization of a number of microdeletion syndromes.

Disadvantages: FISH requires the clinical

knowledge and tests only 1 area at a time. Needs cell culture to generate sufficient DNA.

Applications:

1. Preimplantation chromosomal analysis

2. Pre and post natal diagnosis

3. Chromosomal microdeletion syndromes

170
4. Age related losses

5. Oncology

6. Chromosomal structure study

7. Specific probe preparation

RECOGNIZABLE POISON SYNDROMES

SIGNS
Poison
Mental Bowel Possible Toxins
Syndrome Vital Pupils Skin Other
Status Sounds
Amphetamines,
Hypertensio
cocaine,
n, Agitated,
Sympathomim Dilate Diaphore Normal to ecstasy,
tachycardia, psychosis,
etic d tic increased pseudoephedrin
hyperthermi delirium
e, caffeine,
a
theophylline
Antihistamines,
Hypertensio
Agitation, tricyclic
n,
Anticholinergi delirium, Dilate Decrease antidepressants,
tachycardia, Dry
c mumbling d d atropine, jimson
hyperthermi
speech weed,
a
phenothiazines
Bradycardia
Diarrhea,
(though
urination,
may show Confusion, Organophospha
bronchorrhea,
tachycardia coma, Diaphore Hyperacti tes, nerve gases,
Cholinergic Small bronchospasm
), BP and fasciculatio tic ve Alzheimer
, emesis,
temp ns medications
lacrimation,
typically
salivation
normal
Vitals:
Respiratory
depression
(hallmark Methadone,
of toxicity), suboxone,
Depression Pinpoi Normal to
Opioids bradycardia Normal morphine,
, coma nt decreased
, oxycodone,
hypotension heroin, etc.
,
hypothermi
a
Respiratory
depression,
HR normal
Barbiturates,
Sedative-Hypn to Somnolenc
Small Normal Normal benzodiazepine
otics decreased, e, coma
s, ethanol
BP normal
to
decreased,
171
 SIGNS
Poison
Mental Bowel Possible Toxins
Syndrome Vital Pupils Skin Other
Status Sounds
temp
normal to
decreased

Neuromuscula
Hypertherm
r
ia,
hyperexcitabil SSRIs, lithium,
tachycardia,
Agitation, ity: clonus, MAOIs,
Serotonin hypertensio Dilate Diaphore
confusion, Increased hyperreflexia linezolid,
syndrome n or d tic
coma (lower tramadol,
hypotension
extremities > meperidine
(autonomic
upper
instability)
extremities)
Nausea,
vomiting,
Aspirin,
Tachypnea, tinnitus, ABG
bismuth
hyperpnea, Agitation, with primary
Norma Diaphore subsalicylate
Salicylates tachycardia, confusion, Normal respiratory
l tic (Pepto-Bismol),
hyperthermi coma alkalosis and
methyl
a primary
salicylates
metabolic
acidosis

Tachycardia Withdrawal
Lethargy,
, tachypnea, Dilate Diaphore from opioids,
Withdrawal confusion, Increased
hyperthermi d tic sedative-hypnot
delirium
a ics, ethanol

Enzyme Replacement

Enzyme replacement therapy (ERT) is a component of the treatment of cystic fibrosis to manage
intestinal malabsorption. Pancreatic enzymes are easily administered orally, because they must be
delivered to the gastrointestinal tract.

Enzyme replacement strategies are effective for some lysosomal storage disorders. Enzymes are
targeted for the lysosome by modification with mannose-6-phosphate, which binds to a specific
receptor. This receptor is also present on the cell surface, so lysosomal enzymes with exposed
mannose-6-phosphate residues can be infused into the blood and are taken into cells and transported
to lysosomes. Enzyme replacement therapies are available for Gaucher disease and Fabry disease,
some mucopolysaccharidoses (I, II, VI), Niemann-Pick disease type C, and Pompe disease.

One complication of ERT is antibody response to the enzyme. The magnitude of this response is
172
not always predictable and varies depending on the enzyme preparation and the disease. In most
cases, the patient's antibody response does not affect the treatment's efficacy (e.g, in Gaucher disease),
but in other situations it may be a significant hurdle (e.g., in Pompe disease).

173
 GIT
1. DENTAL CARIES
2. Wilsons disease
3. Pancreatic function tests
4. Chronic diarrhea
5. Malabsorption
6. Peptic ulcer disease and H. pylori
7. Liver transplantation
8. Liver abscess
9. Viral markers in hepatitis
10. c/f of metabolic liver disease
11. autoimmune hepatitis
12. Reyes syndrome
13. portal hypertension
14. Hypertrophic pyloric stenosis
15. mechanisms of diarrhea
16. constipation
17. achalasia
18. duodenal obstruction
19. Hirschsprungs disease
20. Celiac disease
21. Ascites/ SAAG
22. vomiting
23. chronic abdominal pain
24. short bowel syndrome
25. upper GI bleed
26. intussusception
27. antibiotic associated diarrhea
28. GSD
29. portal venous system
30. acute fulminant hepatic failure
31. GERD
32. Pancreatitis (acute, chronic)
33. Indian childhood cirrhosis
34. Liver function tests
35. Neonatal cholestasis approach notes
36. Neonatal hepatitis approach
37. Tracheosophageal fistula
38. Diarrhea – acute and persistent
39. GI bleed (upper and lower)
40. Pre- probiotics
41. gall stones (article)
42.

1. DENTAL CARIES

ETIOLOGY: The development of dental caries depends on interrelationships among the

174
tooth surface, dietary carbohydrates, and specific oral bacteria. The initial demineralization
appears as an opaque white spot lesion on the enamel, and with progressive loss of tooth mineral,
cavitation of the tooth occurs. The group of microorganisms Streptococcus mutans are associated
with the development of dental caries.

CLINICAL FEATURES: Dental caries of the primary dentition usually begins in the pits and
fissures. Small lesions may be difficult to diagnose by visual inspection, but larger lesions are
evident as darkened or cavitated lesions on the tooth surfaces. Rampant dental caries in infants and
toddlers is usually referred as early childhood caries (ECC). Children who develop caries at a young
age are known to be at high risk for developing further caries as they get older.

Complications:

1.Pulpitis 2. Pulp necrosis 3. Dental abscess sepsis

infection of the facial space cerebral abscess.

Treatment:
1. Oral analgesics, such as ibuprofen, are usually adequate for the pain control.
2. Oral antibiotics are indicated for dental infections associated with fever, cellulitis, and facial
swelling, or if it is difficult to anesthetize the tooth in the presence of inflammation.
3. Dental treatment, using silver amalgam, plastic composite, or stainless steel crowns, can restore
most teeth affected with dental caries. If caries involves the dental pulp, a partial removal of the pulp
(pulpotomy) or complete removal of the pulp (pulpectomy) may be required.
4. Dental infection localized to the dentoalveolar unit can be managed by local measures (extraction,
pulpectomy).

Prevention: 1. Fluoride: The most effective preventive measure against dental

caries is communal water supplies optimized to 1 ppm fluoride.

SUPPLEMENTAL FLUORIDE DOSAGE SCHEDULE

FLUORIDE IN HOME WATER (ppm)

AGE
<0.3 0.3-0.6 >0.6
6 mo-3 yr 0.25* 0 0
3-6 yr 0.50 0.25 0
6-16 yr 1.00 0.50 0
*
Milligrams of fluoride per day

2. Fluoridated toothpaste
3. Fluoride varnish is ideal for professional applications in preschool children.

4. Oral hygiene: Daily brushing, especially with fluoridated toothpaste, atleast twice daily helps
prevent dental caries.
5. Diet: Frequent consumption of fruit juice is not generally recognized by parents for its high
cariogenic potential. Special efforts must be made to instruct parents that their child should only
consume juices at meal times and not exceed 6 oz per day.

6. Dental Sealant: Sealants are most effective when placed soon after teeth erupt and used in
175
children with deep grooves and fissures in the molar teeth.

2. Wilson Disease (also read notes for management in siblings with Wilson’s disease)

Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder that can be

associated with degenerative changes in the brain, liver disease, and Kayser-Fleischer rings in the
cornea.

The incidence is 1/50,000 to 1/100,000 births. It is progressive and potentially fatal if

untreated.

Pathogenesis: The abnormal gene for Wilson disease is localized to the

long arm of chromosome 13.
The Wilson disease gene encodes a copper transporting P-type ATPase, ATP7B, which is critical for
biliary copper excretion and for copper incorporation into ceruloplasmin. Absence or malfunction of
ATP7B results in decreased biliary copper excretion and diffuse accumulation of copper in the
cytosol of hepatocytes. With time, liver cells become overloaded and copper is redistributed to other
tissues, including the brain and kidneys, causing toxicity, primarily as a potent inhibitor of enzymatic
processes.

Clinical Manifestations (Total 8 points)

Forms of Wilsonian hepatic disease include

176
1. Asymptomatic hepatomegaly (with or without splenomegaly),

2. Subacute or chronic hepatitis

3. Acute hepatic failure (with or without hemolytic anemia).

4. Cryptogenic cirrhosis, portal hypertension, ascites, edema, variceal bleeding, or other effects of
hepatic dysfunction (delayed puberty, amenorrhea, and coagulation defect) can be manifestations of
Wilson disease.

The younger the patient, the more likely hepatic involvement will be the predominant manifestation.
Girls are 3 times more likely than boys to present with acute hepatic failure.

5. After 20 yr of age, neurologic symptoms predominate. Neurologic disorders can develop

insidiously or precipitously, with intention tremor, dysarthria, rigid dystonia, parkinsonism,
choreiform movements, lack of motor coordination, deterioration in school performance, or
behavioral changes. Kayser-Fleischer rings may be absent in young patients with liver disease but
are always present in patients with neurologic symptoms.

6. Psychiatric manifestations include depression, personality changes, anxiety, or psychosis.

7. Coombs-negative hemolytic anemia may be an initial manifestation, possibly related to the

release of large amounts of copper from damaged hepatocytes; this form of Wilson disease is usually
fatal without transplantation.

8. Unusual manifestations include arthritis, infertility or recurrent miscarriages, cardiomyopathy,

and endocrinopathies (hypoparathyroidism).

Pathology: All grades of hepatic injury occur with steatosis, heptocellular ballooning and
degeneration, glycogen granules, minimal inflammation, and enlarged Kupffer cells. The lesion
may be indistinguishable from that of autoimmune hepatitis. With progressive parenchymal damage,
fibrosis and cirrhosis develop.

Diagnosis:

1. Wilson disease should be considered in children and teenagers with 1. Unexplained acute or
chronic liver disease, 2. Neurologic symptoms of unknown cause, 3. Acute hemolysis, 4.
Psychiatric illnesses, behavioral changes, 5. Fanconi syndrome or 6. Unexplained bone
(osteoporosis, fractures) or muscle disease (Myopathy, arthralgia).
2. Most patients with Wilson disease have decreased Ceruloplasmin levels (<20 mg/dL).
3. The serum copper level may be elevated in early Wilson disease.
4. Urinary copper excretion (usually <40 µg/day) is increased to >100µ g/day and often up to
1,000 µg or more per day.
5. d- Penicillamine challenge test: In equivocal cases, the response of urinary copper output to
chelation may be of diagnostic help. During the 24 hr urine collection patients are given two
500 mg oral doses of d-penicillamine 12 hr apart; affected patients excrete >1,600 µg/24 hr.
6. Demonstration of Kayser-Fleischer rings, requires a slit-lamp examination by an
ophthalmologist.
177
 7. Liver biopsy is of value for determining the extent and severity of liver disease and for
measuring the hepatic copper content (normally <10 µg/g dry weight). In Wilson disease,
hepatic copper content exceeds 250 µg/g dry weight.
8. Screening: Family members of patients with proven cases require screening for pre
symptomatic Wilson disease.
9. Genetic screening by either linkage analysis or direct DNA mutation analysis is possible.

Treatment:

A major attempt should be made to restrict dietary copper intake to <1 mg/day.

Foods such as liver, shellfish, nuts, and chocolate should be avoided.

Demineralise the water if necessary.

The initial treatment in symptomatic patients is the administration of copper-chelating agents,

which leads to rapid excretion of excess deposited copper.

d- penicillamine 10 -50% of patients have worsening of their

condition.

hypersensitivity reactions.
20 mg/kg/day for pediatric
patients deficiency of other elements such as zinc.

aplastic anemia and nephrosis

antimetabolite of vitamin B6 tujhfv

Triethylene tetramine Few side effects

dihydrochloride
20 mg/kg/day for children
Ammonium 120 mg/day (20 mg anemia, leukopenia, thrombocytopenia, and
tetrathiomolybdate between meals tid and 20 mild elevations of transaminases.
mg with meals tid)
Side effects are mostly limited to gastric
upset.
Zinc 25 mg 3 times a day in
children >5 yr of age. Zinc has also been used as adjuvant
therapy, maintenance therapy, or primary
therapy in presymptomatic patients,
owing to its unique ability to impair the
gastrointestinal absorption of copper

Prognosis:

Untreated patients with Wilson disease can die of hepatic, neurologic, renal, or hematologic
complications. The prognosis for patients receiving prompt and continuous penicillamine is variable
178
and depends on the time of initiation of and the individual response to chelation.

Liver transplantation should be considered for patients with fulminant liver disease, decompensated
cirrhosis, or progressive neurologic disease.

In asymptomatic siblings of affected patients, early institution of chelation or zinc therapy can
prevent expression of the disease.

Approach to evaluation and treatment of asymptomatic siblings (or other first-degree relatives) of a
patient with Wilson’s disease. Illustrated are both a “phenotype” and a “genotype” approach to
evaluation

179
3. Pancreatic Function Tests:

Pancreatic function ca