Abnormal skull growth

Microcephaly
Microcephaly is the condition in which the head circumference of an
infant is below 2 standard deviations, which is below the 5 th
percentile.

Causes of microcephaly: Primary or secondary

Craniosynostosis /
Craniosynostosis results from the early closure of cranial sutures,
resulting in several other types of head shapes

Scaphocephaly /comes from the early closure of the sagittal

suture, which has a clinical presentation of anterior-posterior elongation
with bitemporal narrowing

Trigonocephaly / is the result of premature closure of the metopic

suture and gives the forehead a triangular appearance
Brachycephaly results from the premature closure of the coronal
suture and results in a broad head with a recessed forehead.

Plagiocephaly refers to a flattening of one area of the skull and is

often seen in children with a history of lying with the head in one
position.
 MACROCEPHALY
Macrocephaly is the condition in which the head circumference of an
infant is above 2 standard deviations, which is above the 97th
percentile.
Below is a list of conditions featuring macrocephaly
 HYDROCEPHALUS
Cerebrospinal fluid (CSF) is a clear, colorless plasma-like fluid that
circulates through a system of cavities found within the brain and
spinal cord; ventricles, subarachnoid space of the brain and spinal cord
and the central canal of the spinal cord.
Cerebrospinal fluid is produced by a specialized tissue called the
choroid plexus. Choroid plexuses are located in the walls of the lateral
ventricles and in the roofs of the third and fourth ventricles.
The CSF passes from the lateral ventricles to the third ventricle through
the interventricular foramen (of Monro).
From the third ventricle, the CSF flows through the cerebral aqueduct
(of Sylvius) to the fourth ventricle.
From the fourth ventricle, some CSF flows to the central canal of the
spinal cord. However, the majority of CSF passes through the apertures
of the fourth ventricle; the median aperture (of Magendie) and two
lateral apertures (of Luschka). From there, the CSF flows through the
subarachnoid space of the brain and spinal cord. it is finally
reabsorbed into the dural venous sinuses through arachnoid
granulations.
Causes of hydrocephalus:
• Acquired Hydrocephalus: This is the type of hydrocephalus that
develops at birth or in adulthood caused by:
o Tumor o Meningitis o

Infection o

Hemorrhage o

Traumatic brain injury

• Congenital Hydrocephalus: It is present at birth and may be
caused by events that occur during fetal development or as a
result of genetic abnormalities.
Hydrocephalus can be divided into categories.
1. Communicating Hydrocephalus: This type of hydrocephalus
occurs when there is no obstruction to the flow of CSF within the
ventricular system.
The condition arises either due to
a. Inadequate absorption
b. Abnormal increase in the quantity of CSF produced.
c. Impaired resorption in the subarachnoid spaces (results
from meningeal inflammation, due to infection or to blood in
the subarachnoid space).

2. Non-communication (Obstructive) Hydrocephalus: It occurs

when the flow of CSF is blocked along one of more of the
passages connecting the ventricles, causing enlargement of the
pathways upstream of the block. Obstruction most often occurs
in the aqueduct of Sylvius but sometimes at the outlets of the 4th
ventricle (Luschka and Magendie foramina).

The most common causes of obstructive hydrocephalus are:

1. Aqueductal stenosis
2. Dandy-Walker malformation
3. Chiari II type malformation
 [Link] stenosis is narrowing of the outflow pathway
for CSF from the 3rd ventricle to the 4th ventricle. It may be either
primary, or secondary to scarring or narrowing of the aqueduct
resulting from a tumor, hemorrhage, or infection. Primary aqueductal
stenosis may be X-linked

[Link]-Walker malformation comprises progressive cystic

enlargement of the 4th ventricle in fetal life, resulting in agenesis of the
cerebellar vermis and [Link]-Walker malformation
accounts for 5 to 10% of cases of congenital hydrocephalus.
 [Link] II (formerly Arnold-Chiari),
hydrocephalus occurs with spina bifida and syringomyelia. Cerebellar
tonsils protrude through the foramen magnum.

Symptoms
The symptoms of hydrocephalus tend to vary across different age groups.
Infants
• Unusually large head size
• Rapidly increasing head circumference
• Bulging and tense fontanelle or soft spot
• Prominent scalp veins
• Downward deviation of eyes or sunset sign
• Vomiting
• Sleepiness
• Irritability
• Seizures
Children and Adolescents
• Nausea and vomiting
• Swelling of the optic disc or papilledema
• Blurred or double vision
• Balance and gait abnormalities
• Slowing or loss of developmental progress
• Changes in personality
• Inability to concentrate.
• Seizures
• Poor appetite

Diagnosis
Examination in infants may reveal the following findings:

• Head enlargement (head circumference ≥98th percentile for age),

especially crossing percentiles on the growth chart
• Dysjunction/splaying of sutures
• Dilated scalp veins
• Tense/bulging fontanelle.
• Setting-sun sign: Characteristic of increased intracranial pressure (ICP);
downward deviation of the ocular globes, retracted upper lids, visible
white sclerae above irises
• Increased limb tone (spasticity preferentially affecting the lower limbs)

Children and adults may demonstrate the following findings on physical

examination:
• Papilledema (optic nerve swelling),
• Failure of upward gaze:
• Unsteady gait
• Large head
• Unilateral or bilateral sixth nerve palsy (secondary to increased ICP)
• Children may also exhibit the Macewen sign, in which a "cracked pot"
sound is noted on percussion of the head.

Testing
A complete neurological examination, and the following tests to confirm
the diagnosis For neonates, cranial ultrasonography
• Computed tomography scan (CT or CAT scan)
• Magnetic resonance imaging (MRI)
• Lumbar puncture (spinal tap)
• Intracranial pressure monitoring
TREATMENT OF HYDROCEPHALUS

1. Medical treatment: Acetazolamide or furosemide may be

acceptable for CSF fluid reduction
2. Repeat lumbar punctures (LPs).
3. Surgical treatment is the preferred therapeutic option

The principle of shunting is to establish a communication between the

CSF and a drainage cavity (peritoneum, right atrium, pleura).
• A ventriculoperitoneal (VP) shunt is used most commonly.
• A ventriculoatrial (VA) shunt also is called a "vascular shunt." It
shunts the cerebral ventricles through the jugular vein and
superior vena cava into the right cardiac atrium.
• A ventriculopleural shunt is considered second line Complication
of shunt:
1. Shunt Obstruction or blockage
2. Shunt Infections
3. Shunt disconnection
4. A shunt kinking or becoming compressed
5. Shunt valve failure
6. Over drainage
7. Under drainage
8. A subdural hematoma
Alternatives to shunting include the following:

1. Choroid plexectomy in cases of CSF over-production.

2. Cerebral aqueductoplasty.
3. In cases where a tumor is the cause, removal cures the
hydrocephalus in 80%.
4. Endoscopic third ventriculostomy (ETV), involves the surgical
creation of an opening in the floor of the third ventricle to enable
the passage of CSF.

For rapid-onset hydrocephalus with increased intracranial pressure

(ICP) is an emergency.
The following can be done:
• Ventricular tap in infants
• Open ventricular drainage in children
• LP in posthemorrhagic and postmeningitic hydrocephalus
• VP or VA shunt

MDT (Ped Neuro, Neurosurgery, rehabilitation team)

Rehabilitation (Physiotherapy, occupational therapy, early intervention
sessions, speech therapy)
Muscle relaxant for spasticity (if present)
Treatment of seizures
Treatments for swallowing problems
Treatment of recurrent UTI (in case of meningomyelocele)
Psychological support of family
 Encephalopathy and Central Motor Neuron
Disorders
Cerebral Palsy
Cerebral palsy may be defined as a disorder of tone, posture or movement,
which is due to a static lesion affecting the developing nervous system (up
to 3 years of age). Despite the unchanging nature of the causative lesion,
its existence in a developing nervous system means that its manifestations
may change over time. It is considered as static encephalopathy Causes
of cerebral palsy:
Prenatal insults:
• Intrauterine hypoxic–ischaemic injury
• Intrauterine infection
• Toxins
• Chromosomal disorders
Perinatal insults:

• Hypoxic–ischaemic injury

• Intracranial haemorrhage

• Bilirubinencephalopathy

Postnatal insults:

•Trauma
•Bacterial meningitis
• Viral encephalitis
•Asphyxia
NB:

• Preterm ……intracerebral hemorrhage/ periventricular leukomalacia

• The immediate effect of asphyxia is hypoxic ischemic encephalopathy (HIE)
• The immediate effects of kernicterus are lethargy, increased tone, decreased Moro and
opisthotonos, long-term effect includes choreoathetoid cerebral palsy, sensorineural
deafness

Pathophysiological/systemic classification of CP
[Link] (Spastic): 77%, Lesion is usually in the motor
cortex, internal capsule and/or cortico- spinal tracts.
exaggerated tone, reflexes, and pathological reflexes,
contractures.
2. Extrapyramidal (Dyskinetic): 23%, Lesion is usually in the
basal ganglia.
Dystonia, chorea, athetosis
Rigidity, no clonus and Babinski
3. Cerebellar (Hypotonic): decreased tone, exaggerated
reflexes, may be Ataxia and incoordination
Topographic Classification of CP
(anatomical distribution of motor abnormalities)

• Quadriplegia - all 4 extremities

• Hemiplegia - one side of the body
• Diplegia - 4 limbs, legs worse than arms
• Paraplegia - legs only
• Monoplegia - one extremity
Spastic diplegia is most frequently seen as the result of periventricular
leukomalacia in preterm infants.

How can you diagnose CP clinically?

• Delay in motor development
• Abnormal posture and gait
• Abnormal muscle tone
• Abnormal reflexes
• Persistence of some primitive reflexes (Moro).
• Delayed appearance of normal posture protective reflexes
e.g., failure to do parachute reflex at 9 mo.
NB / CP should be diffrentiated from progressive disorders of CNS
including degenerative diseases, metabolic disorders, muscular
dystrophies , so MRI brain should be done. Also, we may consider
metabolic screaning tests and genetic studies in some cases
Associated disabilities/ Complications:
• Mental retardation, microcephaly, epilepsy, hearing and visual
impairments and pseudobulbar palsy.
• Attention deficits, learning disabilities.
• Dysphagia causes malnutrition, poor growth.
• Gastroesophageal reflux, constipation.
• Recurrent chest infections
• Deformities, Joint contractures and scoliosis.

Treatment: is supportive.
Children with cerebral palsy need the care of a multidisciplinary team
directed toward maximizing functional abilities

• Managing concurrent medical problems e.g., seizures, GERD,

constipation, and nutritional rehabilitation (some need feeding by
gastrostomy tube)
• Physical and occupational therapy, special education,
psychology, audiology, and orthotics).
• Treatment of spasticity:
• Physical therapy
• Orthoses
• Muscle relaxants e.g., baclofen (lioresal)
• Botulinum toxin (botox)
• Orthopedic Surgery
 Encephalopathy
• Encephalopathy is a generalized disorder of cerebral function
that may be acute or chronic, progressive or static
• It is a clinical state characterized by an alteration of
consciousness, behavior and/or cognition
• it can present with a range of focal neurological manifestations
such as seizures, visual disturbances, speech abnormalities, motor
weakness, and sensory and autonomic deficits.

• Consciousness is a cortical function that allows for awareness of

self and environment (place, time). Arousal represents the system
that initiates and maintains consciousness and is mediated by the
reticular activating system (RAS), which extends from the pons
through the midbrain to the hypothalamus and thalamus.

• Acute changes in consciousness vary in degree from mild lethargy

and confusion to deep coma.
• Lethargic patients have difficulty maintaining an aroused state.
Patients who are obtunded have decreased arousal but are responsive
to stimuli.
• Stupor is a state of responsiveness to pain but not to other stimuli.
• Coma is a state of unresponsive unconsciousness and is caused by
dysfunction of the cerebral hemispheres bilaterally, the bilateral
thalami, and/or the brainstem.
 Causes of Altered Mental Status:
Postinfectious (e.g., acute Post immunization (e.g., whole
Infection disseminated cell pertussis vaccine)
Meningitis encephalomyelitis (ADEM
Encephalitis (e.g., herpes simplex
virus, arboviruses)
Brain abscess or subdural
empyema
Tuberculosis meningitis
Toxic shock syndrome

Trauma Toxins (Intoxication or

Abusive head trauma Withdrawal) Epilepsy
Hemorrhage (e.g., epidural, Ethanol Subclinical (or nonconvulsive)
subdural, subarachnoid) Narcotics status epilepticus
Brain contusion Barbiturates Postictal states
Concussion Aspirin (Reye syndrome)
Illicit drugs
Lead poisoning

Stroke Migraine
Arterial ischemic stroke Increased Intracranial Systemic Disorders
Cerebral sinovenous thrombosis Pressure Gastrointestinal (e.g.,
Hemorrhage Brain tumor intussusception)
Cerebral edema Vasculitis (e.g., systemic lupus
Hydrocephalus erythematosus)
Hepatic failure
Hypertensive encephalopathy
Reye syndrome
Endocrine disorders (e.g., adrenal
insufficiency, thyroid disorders)
Renal disorders (e.g., uremia
Demyelinating disorders
e.g., multiple sclerosis,
Acute disseminated
enceph alomyelitis (ADEM)
Diagnostic approach:
Coma is a medical emergency, early identification of the underlying
cause of coma can be crucial for patient management and prognosis.
Evaluation and early therapeutic interventions should proceed
simultaneously

Rapid assessment and stabilization: Assessing vital signs and the

ABC
(airway patency, breathing [ventilation and oxygenation], and
circulation) are crucial for initial stabilization, also provide clues
about the underlying etiology
History: laying stress on: -known illness or injury -Onset:
abrupt and unexplained .. intracranial hemorrhage, seizure, trauma, or
intoxication.
Acute …infectious process, metabolic abnormality
Gradual…slowly expanding intracranial mass lesion.
recurrent …metabolic
-Symptoms of increased intracranial pressure (ICP).
-vague or inconsistent history… nonaccidental trauma (child abuse)
Examination:
General examination: head or scalp injury, dysmorphic facies, color
complexion, odor, skin for rash or petechia
Neurologic examination: focal signs, meningeal irritation signs
Assessment of level of consciousness: Glasgow coma scale
Assessment of brain stem affection: pupillary examination,
oculocephalic response and /or vestibulocephalic response, motor
response
Early recognition of herniation syndromes
RAPID BED SIDE TEST: blood glucose level
Investigations:

Routine laboratory testing

Glucose
Sodium, potassium, calcium, magnesium, chloride, bicarbonate,
BUN, creatinine, AST, ALT, blood gases, ammonia, TSH
Blood, urine analyses for toxic substances
Blood, urine cultures if infection suspected
Skeletal survey, ophthalmologic examination if child
abuse suspected Neuroimaging
Head CT
Brain MRI, MRA, MRV
CSF analysis (if no evidence for increased intracranial
pressure on neuroimaging) Opening pressure
White and red blood cell counts, protein, glucose
Culture (+viral PCR testing)
EEG
Secondary laboratory testing (if cause remains unknown)
Lead level, pyruvate, lactate, serum amino acids, urine
organic acids, acylcarnitine prof

Treatment:
*Stabilize the patient (ABC, IV access, treat hypoglycemia and definite
seizure),
*Give empiric treatment till reaches the underlying cause then treat
accordingly:
For suspected infection: Ceftriaxone and vancomycin/ Acyclovir
For suspected opioid ingestion: Naloxone
For suspected increased ICP: Mannitol / Hypertonic saline 3% Also,
elevate head and keep midline
For suspected nonconvulsive status epilepticus: treat as status
epilepticus
 CNS infection
Histologically:
• Meningitis…. infection of meninges
• Encephalitis…. infection of brain parenchyma
• Meningoencephalitis…. usually caused by viruses
• Focal infection (brain abscess)

How to suspect CNS infection?

Common symptoms:
• Headache, photophobia
• nausea, vomiting, anorexia
• Restlessness, altered state of consciousness
• Common signs
• Fever
• Neck pain and rigidity
• Focal neurologic deficits
• Seizures
• Obtundation and coma
 Bacterial meningitis

• It is one of the most serious pediatric infections that is

associated with high risk of mortality and morbidity. However,
deployment of antibiotics and vaccines altered the spectrum of
the disease
• Streptococcus pneumoniae, Hemophilus influenzae, Neisseria
meningitidis are the most frequent causative organisms
• Transmission through droplets of respiratory or throat secretions
from carriers……hematogenous spread…BBB
• OR direct inoculation from penetrating head injury

Clinical manifestations:

Usually preceding upper respiratory tract symptoms.

• Rapid onset is typical of S. pneumoniae and

[Link].

• Fever usually is present

 • Manifestations of meningeal inflammation

include headache, irritability, nausea, vomiting, nuchal rigidity,

lethargy, photophobia.

In young infants, signs of meningeal inflammation may be

minimal with only irritability,
restlessness, depressed mental status, and poor feeding
Kernig and Brudzinski signs of meningeal irritation usually
are positive in children older than 12 months of age.
.
• Focal neurologic signs, seizures, petechial or purpuric
lesions, sepsis, shock, and coma may occur.

• Manifestations of increased intracranial pressure:

headache, diplopia, and vomiting. sixth nerve palsy. A

bulging fontanel may be present in infants.
Cushing triad: bradycardia with hypertension, and apnea are
signs of increased intracranial pressure with brain herniation.
Papilledema is uncommon, unless there is occlusion of the
venous sinuses, subdural empyema, or brain abscess.
Complications:
◦ subdural effusion,
◦ intracranial infection (subdural empyema, brain
abscess),
◦ cerebral infarction,
◦ hydrocephalus,
◦ diabetes insipidus
◦ disseminated infection (arthritis, pneumonia). ◦
Neurologic sequelae include focal deficits,
seizures, hearing loss, and vision impairment. The
most common permanent neurologic sequel is
hearing loss.
 Diagnosis:
- CT or MRI:
- Lumber puncture:
Cytology: cell count and type
Chemistry: glucose and proteins
Culture and sensitivity

Treatment:
• In infants and children outside of the neonatal age group,
third-generation cephalosporin &Vancomycin

Third-generation cephalosporin is generally used empirically,

as it treats pathogens most likely recovered at this age,
including S. pneumoniae, N. meningitidis & H. influenzae
type b.

• Vancomycin is added for resistant S. pneumoniae.

Duration of treatment ranges between10 to 14 days.

• Dexamethasone shown to decrease hearing loss in those

with meningitis due to H. influenzae type b (given before or
concurrently with first dose of antibiotics).
Antibiotic prophylaxis of close contacts to those with
meningococcal meningitis and H. influenzae type b
meningitis is indicated.
 Viral meningoencephalitis
Etiology:

• Enteroviruses (polio, echo, coxsackie and enterovirus)

• Herpesviridae(HSV-1,HSV-2,varicella zoster,
CMV,HHV type 6)
• Mumps, measles, rubella,
• respiratory viruses (adenovirus, corona virus, influenza
virus.)
Arboviruses (WNV, Japanese encephalitis virus)

Clinical picture:
the same as bacterial one. BUT may find exanthems either
precede or accompany CNS signs

Outcome:
quite variable, some pathogens are self limited, others cause
significant long- term neurologic sequelae

Diagnosis:
suspected by CSF cells are less than 1000/mm3, mononuclear
Confirmed by PCR
Treatment:
for most causes, no effective antiviral agents except herpes
virus family……. Acyclovir, ganciclovir, others.

supportive management: IV fluids, seizure control, treat

cerebral edema…
 Brain abscess
• Often associated with an underlying etiology; contiguous
spread from nearby infection like :
➢ Meningitis
➢ OM,
➢ Mastoiditis
➢ sinusitis
OR directcompromise of BBB due to penetrating head injury

Organisms:
• Streptococcus anginosus group is the most common.
• Staph. Aureus is the 2nd most common

• Clinical picture:
• Early; asymptomatic or non specific [Link] grade fever,
headache…
• Then, severe headache, vomiting, seizures, focal signs,
papilledema, up to coma
• If cerebellar, may present with nystagmus and ataxia
• Diagnosis:

MRI is the best diagnostic tool as it can differentiate the

abscess from cysts or necrotic tumors

• Treatment:
➢ Antibiotc regimen: usually start empirically with

3rd generation cephalosporin+metronidazole+vancomycin

➢ Aspiration of large abscess for diagnosis,culture and

decompression
 Weakness and Hypotonia in Pediatrics
Hypotonia and Weakness are neurological findings that can be found
due to central and peripheral motor neuron affection:

• Central hypotonia:
1- HIE (atonic type)
2- Stroke (Hemorrhagic and thromboembolic)
3- Genetic syndromes like Down syndrome and Prader-Willi syndrome.
4- Metabolic disorders like lipid storage disease.
5- Spinal cord lesions like shock stage of transverse myeitis, tumor, trauma
and vascular injury.
• Peripheral Hypotonia:
Motor neuron unit disorders (see later).
Note:
- Hypotonia is about muscle tone. Weakness is about muscle power.
- Hypotonia and weakness manifest as delayed motor development if
early in life and primary/Secondary inability of motor function later on.
Demonstrating Hypotonia:
• Supine position
• Head lag or traction response In neonates
• Ventral/ horizontal and infants
suspension
• Vertical suspension.
• Passive tone around the joints.
1- Frog Position: In the Supine position; frog's leg position, spontaneous
movements are lacking & the arms lie either extended at the sides of the
body or flexed at the elbow with the hand beside the head.

2- Traction response: Shoulders don't raise promptly and there is marked

head lag.

3- Ventral suspension: More marked back curve, his head drops well below
45° from the horizontal and head & legs are hanging limply.
4- Vertical suspension; When a hypotonic infant is suspended vertically, the
head falls forwards, the legs dangle and the infant may slip \through the
examiner's hands because of weakness in shoulders.

5- Passive tone; Shows marked decrease in resistance to stretch.

Note:
• Tone is the resistance of a muscle to stretch.
• The muscle is said to be hypotonic or flaccid when it offers little resistance
to stretch.
• Tone vs. Power?
• Causes of Hypotonia and Weakness in Pediatrics:
Neuron Cause of Hypotonia and weakness
UMNL
• • Hypoxic-ischemic encephalopathy
• Intracranial hemorrhage
Stroke (thrombotic or embolic)
•
Genetic syndromes (Down syndrome and PraderWilli)
• Cortex
• Inborn errors of metabolism (Folate deficiency states)
• Storage diseases (Lipid storage Diseases)
• Cervical spine injury Corticospinal Tract Paraspinal
• infections and tumors
• Corticospinal tract
• Postinfectious Transverse Myelitis
LMNL
• Anterior Horn Cell • Spinal muscular atrophy type 1 (Werding-Hoffman
disease)
• Poliomyelitis
• Peripheral nerve root/nerve • Hereditary sensory motor neuropathy Gulilian
• Bacre syndrome

• Other autoimmune and inflammatory neuropathies

• Heavy metals, toxins and drugs intoxication
• Neuromuscular junction • Congenital myasthenic Syndromes
• Transient acquired neonatal myasthenia
• Myasthenia Gravis
• Aminoglycosides and organophosphorus toxicity
• Infantile botulism
• Muscle • Congenital myopathies
• Congenital muscular dystrophy
• Hypokalemic periodic paralysis
Motor Examination in LMNL vs LMNL
UMNL LMNL

Increased (spasticity or
Tone Decreased
rigidity)

Reflexes Increased Decreased

Babinski reflex Present Absent

Atrophy Disuse- Possible Denervation-Possible

Possible (nerve
Fasciculations Absent
disease?)

Quadriplegia-Diplegia
Proximal (myopathy)
Muscle Weakness paraplegia-
Distal (Neuropathy)
Hemiplegia
Causes of Cerebral Hypotonia:
➢ Hypoxic Ischemic Encephalopathy (Atonic CP)
➢ Intracranial Hemorrhage and Thromboembolic stroke
➢ Genetic Syndromes e.g., Down syndrome and Prader-Willi.
➢ Metabolic disorders e.g. Lipid storage, etc.
Causes of Spinal Cord Hypotonia
➢ Shock stage of Transverse Myelitis
➢ Spinal cord infections and inflammation
➢ Spinal cord trauma
➢ Spinal cord tumors
➢ Spinal cord vascular lesions.

Transverse Myelitis

• Acute demyelinating spinal cord disorder evolving in hours or days.

• Attributed or preceded by viral infection or immunization.
• Usually thoracic and demarcated by the sensory loss (sensory level).
• Usually presented as symmetric leg weakness, asymmetric presentation is
common.
• No voluntary bladder emptying.
• Tendon reflexes may be high or low?
• Recovery begins after app. a week
• 10% do not recover
• 40% have incomplete recovery).
Diagnosis:

MRI to exclude acute cord compression and show swelling and signs of
inflammation at level of myelitis.
Treatment:
• Steroids methyl prednisolone
• IV IG\plasmapheresis are also used.
 The Motor Neuron Diseases in Pediatrics
Anatomical background of the motor neuron unit:
• Disorders of the motor neuron unit (lower motor neuron lesion) include four
components:

1) A motor neuron in the ventral horn of the spinal cord (AHC).

2) Axons of motor neurons (efferent nerve) which form the peripheral nerve.
3) Neuromuscular junction.
4) Muscle fiber innervated by a single motor unit.
Clinical manifestation of motor unit disease
• Hypotonia
• Muscle weakness which is more proximal > distal in myopathies and the
reverse in neuropathy.
• Tendon stretch reflexes are lost or diminished.
• Fasciculations as a sign of denervation.
• Fasciculations; brief contraction of small number of muscle fibres leading
to flicker under the skin (eg. tongue).
• Contractures occur at birth or later whether in neuropathic or myopathic
disorders.
• Funnel shape thorax usually encountered in congenital neuromuscular
disorders.
Motor Unit Disorders
I. Anterior Horn Cell disorders
• Spinal Muscle Atrophy (SMA) \
Poliomyelitis
• Non polio Enteroviral infections

Spinal Muscular Atrophies (SMA)

• It is an autosomal recessive genetic defect in SMN gene which encodes for
a protein which is necessary for survival of motor neurons; low level of this
protein leads to dysfunction of LMN (A.H.C.) of the spinal cord and brain
stem.
• It may begin in intrauterine life or any time thereafter.
• Broad phenotype spectrum ranging in age of onset.

SMA Type I
Werding-Hoffman or the severe infantile form (2 – 6 months):
• Starts in utero or may be delayed to the 1st 24 hours of life.
• Generalized hypotonia and weakness more proximal and distal with
characteristic fasciculations (best seen in the tongue)
• Fasciculations of the tongue (denervation).
• With progression, breathing becomes rapid, shallow, and predominantly
abdominal.
• Extraocular muscles, sphincters and diaphragm are spared.
• The heart isn’t involved and the IQ is normal.
• Cause of death: bronchopneumonia and respiratory failure.
•

SMA Type II:

• It is the more slowly progressive late infantile form (6 – 18 months).
• Reach sitting position and live till adolescence.

SMA Type III:

• It is a more chronic or juvenile form (onset > 18 months).

SMA type IV
Adult-onset form.
Diagnosis of SMA:
• Nerve Conduction Velocity (NCV)
• Genetic studies for SMA gene
• Prenatal and pre-implantation diagnosis by genetic testing.

Treatment by Multidisciplinary team:

• Orthopedics, Physiotherapy and orthotics, Nutrition, Respiratory care,
etc…

Gene therapy:
• The FDA has approved three medications to treat SMA:
• All are forms of gene therapy that affect the genes involved in SMA.

II. Peripheral Neuropathy

• Hereditary Sensory-Motor Neuropathy.
• Gullain-Barrè Syndrome.
• Other autoimmune and inflammatory neuropathies.
• Tumors
• Toxins and Heavy metals.
• Drug intoxication.

Hereditary Sensory-Motor Neuropathy (HSMN)

• They are group of progressive diseases of peripheral nerves genetically
determined.
• Motor components generally dominate but sensory
involvement
(hypothesia) can be present.
• Autonomic involvement can happen.
• Diagnosis: Genetic testing
Guillain Barre Syndrome (Post-infectious Polyneuropathy)
• Demyelination (loss of myelin) of mainly motor nerves sometimes also
sensory and autonomic, affect all ages and isn’t hereditary.
• Preceded by vaccination, or viral infection (measles, mumps, echovirus, or
coxsakie) by 1-2 weeks,
• Autoimmune in nature.
• Starts as ascending paralysis to ultimately cause bilateral symmetrical
hypotonia with areflexia.
• Ocular affection: Millter-Fisher syndrome (acute external ophthalmoplegia,
ataxia and areflexia).
• The course is either regressive, progressive or follows a chronic neuropathy
causing flaccid tetraplegia with bulbar and respiratory muscle involvement
and ventilation may be needed.

Diagnosis:
a) Nerve conduction velocity.
b) CSF examination (Cyto-albuminous dissociation?).
c) MRI.
Management:
• Plasmapheresis/Intravenous Immunoglobulin are the mainstay kind of
treatment.
III. Disorders of neuromuscular transmission
Congenital myasthenic Syndromes
• Transient acquired neonatal myasthenia.
• Myasthenia Gravis
• Aminoglycosides and organophosphorus toxicity
• infantile botulism

Myasthenia Gravis
• It is characterized by progressive fatigability along the day of striated
muscle, the cause is an immune- mediate neuromuscular blockade
(Antibodies to the Acetyl Choline receptors and others).

• Diagnosis:
• EMG-Antibodies detection in blood- Edrophonium Test.
• EMG with repetitive stimulation
• TTT:
• Anticholinesterase medications.
• Infants born to myasthenic mothers can have transient neonatal myasthenic
syndrome.

IV. Disorders of muscle

• Congenital myopathies (non-progressive genetic)
• Muscular dystrophy (1ry progressive genetic causing progressive weakness
and degeneration of skeletal muscles)
• Metabolic myopathy (due to error or defective metabolic problem)
• Hypokalemia, Hypophosphatemia.
• Inflammatory myopathy
• Acute rhabdomyolysis

Congenital Myopathies
• It is non-progressive, genetically determined disorders; the definitive
diagnosis of each type is determined by histopathological finding in muscle
biopsy.
Note:
Congenital myopathy vs Muscular dystrophy?

Muscle Dystrophies:
Duchenne Muscular Dystrophy
• A muscular dystrophy is a primary myopathy, genetic basis, progressive.
• Degeneration and death of muscle fibers occur at some stage in the disease
XLR disease.
• Dystrophin (a muscle protein) is deficient causing functional abnormalities
in skeletal muscles, cardiac muscles and brain.
• In infancy: mild hypotonia may be present. mild delay in motor
development.

Proximal weakness with pseudohypertrophy of calf muscles, tongue due to

proliferation of connective tissue in muscle. and sparing of hand muscles as
well as extraocular muscles and uretheral sphincter.
• An early Gowers sign is often evident by age 3 yr and is fully expressed by
age 5 or 6 years.

• Gower sign winging of scapula

• The length of time a patient remains ambulatory varies greatly 7-10years
• Contractures most often involve the ankles, knees, hips, and elbows.
Scoliosis is common.
• The thoracic deformity further compromises pulmonary capacity and
compresses the heart.
• Cardiomyopathy is a constant finding IQ affection occurs in 25%.
• Milder form = Becker’s.
Diagnosis:

• EMG.
CPK Enzyme assay.
• Genetic studies For dystrophin gene in blood and muscle. o Echo and ECG.
• Pulmonary Functions.
Management:

• Treatment of cardiorespiratory complications. o Non

exhausting physiotherapy.
• Orthopedic choices (bracing and tendon lengthening surgery)
Use of Steroids in DMD
• Glucocorticoids can decelerate the myofiber necrosis in muscular
dystrophy.
• DMD treated early with steroids appear to have an improved long-term
prognosis in muscle and myocardial outcome, as well as short-term
improvement in muscle strength, and steroids can help keep patients
ambulatory for more years than expected without treatment
• Heart medications, such as angiotensin-converting enzyme (ACE)
inhibitors or beta blockers, if muscular dystrophy damages the heart.

Causes of Death in DMD

• Respiratory muscle involvement is expressed as a weak and ineffective
cough, frequent pulmonary infections, and decreasing respiratory reserve.
• The thoracic deformity further compromises pulmonary capacity and
compresses the heart.
• Pharyngeal weakness can lead to episodes of aspiration, nasal regurgitation
of liquids, and an airy or nasal voice quality.
• Cardiac failure.
Gene therapy:
• Gene therapy is already established and was approved by FDA in certain
mutations

How do you investigate a motor unit disease or lower motor neuron

disease to localize the lesion and determine its etiology? Where is the
lesion? What is the lesion?)

I. Laboratory Findings:
• Several Lysosomal enzymes are released by damaged or degeneration of
muscle fibers and could be measured in serum. The most useful is Creatine
Phosphokinase (CPK).
• CPK level is characteristically elevated in muscular dystrophies and
breakdown.
• Molecular genetic marker: DNA markers from samples .

II. Nerve conduction velocity (NCV):

• Motor and sensory nerve conduction velocity (NCV) electro-physiologically
determined through surface electrodes by which we can localize the site of
lesion anterior horn cell (A.H.S.), peripheral nerve.
III. Electromyography (EMG):
• Electrophysiological studies through inserting electrodes in the muscle. It is
used mainly to diagnose myasthenic decremental response and myopathic
involvement.

IV. Imaging of Neuromuscular Disorders:

MRI (image of choice) in muscle dystrophy, dermatomyositis and spinal
cord or nerve roots (Transverse Myleitis) or plexues (Brachial plexues
lesions) injuries.

V. Muscle Biopsy:
• The most important and specific diagnosis (Quadriceps femoralis) to be
examined by light and electron microscopy and immuno-histochemistry and
genetic studies.

VI. Nerve Biopsy:

• Sural nerve is a pure sensory nerve, the mostly sampled nerve (90% involved
in all neurons) electron microscopy and special stain for specific disease.

VII. Echocardiography & ECG:

• Cardiac evaluation in myopathies
Important points:

• Not all causes of inability to walk is due to CNS disorder whether

central or peripheral.
• Non-paralytic causes especially bone disease rickets, arthritis and
congenital hip dislocation, systemic illness or even physiological
delay must be considered.
• Hypotonia and motor developmental delay may be an expression of
other diseases as endocrine, rickets, systemic metabolic or non-
specific expression of chronic systemic illness or malnutrition.
• Primary vs Secondary inability to walk.
• Acute vs Chronic flaccid paralysis
 Acute Flaccid Paralysis in Infants and Children

Common
Type Presenting Site of Cause Clues to Diagnosis
features Lesion
UMNL AFP and Cerebral - Intracranial Hge. -History of trauma-Signs of increase
hypotonia Cortex ICT and signs of lateralization.
are the initial - Known Tumor and signs of
presentations -Brain Tumor. increased ICT. -Todds paralysis
for following seizure activity. - History
UMNL. -Seizures. of Perinatal asphyxia.
AFP occurs on
the opposite - HIE
side of the - History of trauma- Sensory
CNS. level/loss-Bowel/Bladder
Spasticity involvement- Pain spine and
- S.C. Trauma.
develops later. Spinal Cord movement.
Hyperreflexia (UMN - Sensory level/loss-
and positive below the Bowel/Bladder involvement-
Babinski. lesion) - S.C. Tumor. Painful spine and movement. -
Fever- Sensory level/loss-
- Paraspinal infections and Bowel/Bladder involvement- Pain
inflammations. spine and movement.
-Fever- Neck stiffness-Sensory
- Transverse Myelitis. level/loss-Bowel/Bladder
involvement- Pain spine and
movement.
LMNL AFP and AHC - Poliomyelitis and non - Fever……..
hypotonia disease. polio Enteroviruses.
are persistent - Preceding viral
presentations Peripheral - Guillian-Barre infections/vaccinationAscending
of Nerve weakness- Autonomic
LMNL. diseases. manifestations- vague sensory
Muscle weakness - Peripheral nerve Toxins. symptoms and pain.
Hypotonia - Exposure.
Fasciculations
in neve disease. - Botulism
Decreased spinal NMJ - exposure- constipation- descending
cord disorders weakness- facial weakness.
- Mysthenia Gravis
reflexes - Prominent and early ptosis- facial
weakness - fluctuating symptoms-
fatiguability.
- Rabdomyolysisi
Muscle
- Painfull muscles- Dark urine.
disorder
Chapter (): SEIZURE DISORDER

Prof. Hoda Tomoum

Intended learning outcomes:

By the end of this chapter the student should be able to:
• Identify the different types and causes of seizures in infants and children
• Identify febrile seizures and the basic management plan
• formulate a plan for diagnosis and management of infants and children
presenting with seizure episode in the emergency room.
• Be familiar with long term management of epilepsy (basic principles)
• Recognize the some of the common conditions mimicking seizures
(Audiovisual and case based review)

DEFINITIONS

A seizure* is a transient occurrence of signs and/or symptoms

resulting from abnormal excessive or synchronous neuronal activity
in the brain.

Acute symptomatic seizures occur secondary to an acute problem

affecting brain excitability such as electrolyte imbalance, structural,
inflammatory, acute stroke, or metabolic disorders of the brain (Table
1). The prognosis depends on the underlying disorder, including its
reversibility and likelihood of developing epilepsy.

Epilepsy is a disorder of the brain characterized by an enduring

predisposition to generate seizures and by the neurobiologic,
cognitive, psychological, and social consequences of this condition.
For epidemiologic purposes, epilepsy is considered to be present when
at least two unprovoked seizures** occur in a time frame of more than
24 hours.
 Table (1) Etiology of acute symptomatic seizures

Etiology of epilepsy can be categorised into three major groups:

The epilepsy is the direct result of a known or presumed genetic
defect(s) in which seizures are the core symptom of the disorder and
Genetic in which there is no gross neuroanatomic or neuropathologic
abnormality.
There is a distinct other structural or metabolic condition or disease
that has been demonstrated to be associated with a substantially
Structural/Metabolic
increased risk of developing epilepsy See Table 2 )
(
Unknown is meant to be viewed neutrally and to designate that the
nature of the underlying cause is as yet unknown; it may have a
Unknown cause fundamental genetic defect at its core or it may be the consequence
of a separate as yet unrecognized disorder.

*Seizure disorder is a general term that is usually used to include any one of
several disorders including epilepsy, febrile seizures, single seizures and seizures
secondary to metabolic, infectious, or other etiologies (hypocalcemia,
meningitis,…etc).
**The term “unprovoked” implies absence of a temporary or reversible factor
producing a seizure at that point in time.
 Table ( 2 ) Conditions and disorders frequently associated with epilepsy

Subcategory Examples*

Neurocutaneous syndromes Tuberous sclerosis; neurofibromatosis;…

Organic acidurias; pyridoxine-dependent epilepsy; Urea cycle

Disorders of metabolism disorders; disorders of cobalamin and folate metabolism,..

Chromosomal and genetic Down syndrome; Fragile X syndrome;..

disorders
Developmental anomalies of
cerebral structure Hemimegalencephaly; focal cortical dysplasia; arachnoid cyst

Perinatal and infantile causes In utero infection; ischemic insult;…

Open head injury; closed head injury; epilepsy after epilepsy

Cerebral trauma surgery

Cerebral tumor Glioma; ganglioglioma and hamartoma

Viral meningitis and encephalitis; bacterial meningitis and

Cerebral infection abscess

Cerebral hemorrhage; cerebral infarction; arteriovenous

Cerebrovascular disorders malformation

Cerebral immunologic SLE and collagen vascular disorders

disorders
Degenerative and other
neurologic conditions Neurodegenerative; hydrocephalus; porencephaly;..
*
These examples are not comprehensive, and in every category there are other
causes.
 CLASSIFICATION OF SEIZURE TYPES:

ILAE Proposal for Revised Terminology for Organization of Seizures and

Epilepsies 2010

Mode of seizure onset and classification of seizures:

➢ Generalized epileptic seizures are regarded as arising in and rapidly
engaging bilaterally distributed networks,
➢ while focal (partial) epileptic seizures as originating within networks
limited to one hemisphere.

I. Partial (focal, local) seizures

• The seizure is first classified according to level of awareness. If awareness
is impaired at any point in the seizure, the seizure is a focal impaired
awareness seizure.
• Because the first symptom/sign of the seizure is the most useful feature
for identification of the regional brain network in which the seizure arises,
focal onset seizures are also classified by their initial onset feature, even if
this is not the most prominent feature overall in the seizure.
 The following seizure types are therefore recognized for classifying
focal seizures:
➢ Aware or Impaired Awareness
And
➢ Motor onset OR Non motor onset:

Non motor includes: o Focal sensory seizure

o Focal cognitive seizure
o Focal emotional seizure
o Focal autonomic seizure
o Focal behavioural arrest seizure

Focal seizures can spread widely in the brain to engage bilateral

networks, including cortical and subcortical structures, resulting in a
tonic-clonic seizure with loss of consciousness. This seizure type is
known as a focal with secondary bilateral tonic-clonic seizure.

II- Generalized seizures:

➢ Tonic Seizures:
o No clonic phase
o A generalized tonic seizure involves bilaterally increased tone of the
limbs typically lasting 3 seconds to 2 minutes.

➢ Tonic-Clonic Seizures:
o Generalized tonic-clonic seizures are bilateral and symmetric
generalized motor seizures, that occur in an individual with loss of
consciousness.
o The tonic-clonic seizure consists of a tonic (bilateral increased tone,
lasting seconds to minutes) and then a clonic (bilateral sustained
rhythmic jerking) phase, typically in this order.
o Myoclonic Seizures:
o A myoclonic seizure is a single or series of jerks (brief muscle
contractions). Each jerk is typically milliseconds in duration. Brief
jerks with sudden onset & offset.
o May occur singly or in series.
➢ Atonic Seizures:
o An atonic seizure involves sudden loss or diminution of muscle tone
without apparent preceding myoclonic or tonic features. o Classically
drops to floor.
o May be limited to head nodding / knee sagging.
➢ Clonic Seizures
o Not preceded by tonic phase.
o A clonic seizure is a seizure with bilateral, sustained rhythmic jerking
and loss of consciousness.
o It is distinguished from repetitive serial myoclonic seizures by the
rhythmicity of the jerking and that it occurs in the setting of loss of
consciousness
➢ Absence seizures
• Absence seizures with impairment of consciousness only, mild clonic
components, atonic components, tonic components, automatisms,
autonomic components

Aura: The portion of seizure which occurs before consciousness is lost

and for which memory is retained after-wards. In simple partial
convulsion, it is the whole seizure.

Postictal: The transient clinical and / or electrophysiologic brain

dysfunction that results from the seizure and appears when it has ended,
featured by drowsiness, confusion, sleep or automatism.
 Infantile spasms are brief contractions of the neck, trunk, and arm
muscles, followed by a phase of sustained muscle contraction lasting
less than 2 seconds.
Each jerk is followed by a brief period of relaxation with repeated
spasms in clusters of variable duration.
The peak age at onset of infantile spasms is 3-8 months.
Infantile spasms are a neurological emergency since rapid initiation of
effective therapy offers the best chance for favorable
neurodevelopmental outcomes.

INVESTIGATIONS:
Electroencephalogram (EEG) should be performed to support a diagnosis of
epilepsy. EEG may help determine seizure type and epilepsy syndrome and
thus provide the most suitable therapy.
Please note: The EEG should not be used in isolation to make a diagnosis of epilepsy or exclude
it when the clinical presentation supports a diagnosis of a non-epileptic event.

Sleep EEG increases the yield of 50% of cases with unhelpful wake EEG.
Serial EEGs will increase the yield of abnormalities

Use of EEG:
• Classify epileptic syndromes.
• Evidence of photosensitivity.
• Hyperventilation may provoke absence seizures
• To identify individuals with non-convulsive status epilepticus
• Guide for likelihood of relapse on ASM withdrawal

Video-EEG monitoring can help characterize the type of seizure and thus
optimize pharmacologic treatment and for presurgical workup.

Neuroimaging should be used to identify structural abnormalities that

cause certain epilepsies. MRI should be the imaging investigation of
choice. CT should be used to identify underlying gross pathology if MRI
is not available or is contraindicated.

Other investigations, including blood, CSF and urine biochemistry,

genetic testing, advanced radiologic imaging should be undertaken at the
discretion of the specialist to exclude other diagnoses, and to determine an
underlying cause of epilepsy.

Some of the disorders that may mimic epilepsy

Breath-holding attacks*
Collapsing attacks with cardiac dysrhythmias
Behavioral staring attacks
Self-stimulatory behavior, especially in children with autistic
spectrum disorders
Night terrors**

*Breath-holding attacks typically affect pre-school children. The child will

begin crying after some form of upset and then stop breathing in expiration
with what appears a silent cry or a series of expiratory grunts. With this
prolonged expiratory apnoea the child's face becomes blue with deep
cyanosis. They may recover at this point and breathe in, or go on to a
syncope with transient loss of consciousness.
** Night terrors: The onset usually occurs by 4 years of age and always by
age 6. Two hours after falling asleep, the child awakens in a terrified state,
does not recognize people, and is inconsolable. An episode usually lasts for
5 to 15 minutes but can last for an hour.
 EVALUATION OF THE FIRST SEIZURE
Initial evaluation of an infant or child during or shortly after a
suspected seizure should include an assessment of the adequacy of the
airway, ventilation, and cardiac function as well as measurement of
temperature, blood pressure, and glucose concentration.

For acute evaluation of the first seizure, the physician should search
for potentially lifethreatening causes of seizures such as meningitis,
systemic sepsis, unintentional and intentional head trauma, and ingestion
of drugs of abuse and other toxins. The history should attempt to define
factors that might have promoted the convulsion and to provide a detailed
description of the seizure.

(Table 3 )Differential diagnosis for a patient being evaluated in the ER

for first seizure should include:
(1) Infections: meningitis, encephalitis (herpes simplex or other viruses),
brain abscesses, parasitic infections.
(2) Metabolic derangements: hypoglycemia, hypocalcemia, hyponatremia,
inborn errors of metabolism, pyridoxine deficiency, uremia.
(3) Vascular: cerebrovascular accident, hypertensive encephalopathy,
intracranial hemorrhage.
(4) Toxicological: ingestion, inhalation, exposure or withdrawal of
substances of abuse.
(5) Trauma: non-accidental trauma, closed head injury.
(6) Oncological: brain tumor, metastatic disease.
(7) Neurological: epilepsy, febrile seizure.

At least initial workup should include blood glucose, CBC, electrolytes,

urine analysis, CSF analysis and possibly neuroimaging.
 Status Epilepticus
The definition of status epilepticus is refined to reflect the time at which
treatment should be
initiated (t1 ) and time at which continuous seizure activity leads to long-term
sequelae (t2 ) such as neuronal
injury, depending on the type of SE.

For generalized tonic-clonic seizures, SE is defined as continuous

convulsive activity or recurrent generalized convulsive seizure activity
without regaining of consciousness (t1 = 5 min, t2 ≥ 30 min).
In established epilepsy, status may be precipitated by:
▪ drug withdrawal,
▪ intercurrent illness,
▪ metabolic disturbances, or
▪ the progression of the underlying disease, and is commoner in
symptomatic epilepsy.

Most episodes of status, however, develop de novo due to acute

cerebral disturbances; e.g. cerebral infection, trauma, tumour, acute
toxic or metabolic disturbances and febrile illness
THERAPY OF EPILEPSY

Antiseizure Medication (ASM)

It is worth noting that initiation of ASM is a major event in the patient’s life. Patients must
take ASM for a long time and all ASM have side effects.
The goal of antiepileptic therapy is to achieve maximum normal function by balancing
seizure control against drug toxicity. Start therapy with a single drug. The drug chosen
should be introduced gradually and increased slowly to its target maintenance dose based
on the child’s body weight and recommended guidelines.

Which drug and in what dose? It is the identification of the seizure type (Table
4) and safety profile of the drug that determines the choice of anticonvulsant.

Most children with epilepsy achieve complete seizure control with

monotherapy when using the correct drug for the seizure type.
(Table 4 ) Example of ASM according to seizure type
Seizure- type Antiseizure medications
Generalised tonic–clonic Sodium valproate (not in a female in a child bearing
period)
Lamotrigine
Tonic or atonic Sodium valproate
Absence Ethosuximide
Myoclonic Sodium
valproate
Focal Lamotrigine

Non pharmacologic lines of treatment: Ketogenic diet, surgical (curative and

palliative) and vagal nerve stimulation.
Epilepsy surgery:
5 – 10% of chronic medically refractory epileptics may be surgery candidates.

Candidates for surgery:

 Confirmed diagnosis.

 Disabling seizures.

 No progressive underlying disease.

 Medical intractability; adequate trial of 2-3 first choice drugs with no acceptable

control(1;2y).

Surgical approach:

 Focal cerebral resection

• -Temporal lobectomy and amygdalohippocampectomy

• Non temporal lobe resection

 Hemispherectomy

 Corpus callosotomy

Ketogenic diet
• The ‘classic’ ketogenic diet is a high-fat, moderate protein, low
carbohydrate diet designed to mimic the biochemical changes
associated with prolonged starvation, which had been reported to
produce a dramatic decrease in uncontrollable seizures.
• As the diet provides minimal carbohydrate, the fats are incompletely
metabolized and ketone bodies result. The diet provides adequate
protein for growth.
 • The classic ketogenic diet is determined by a ratio of grams of fat to
grams of protein plus carbohydrate combined. A 4:1 ratio (90%
calories from fat) is typically used for children
• There was no clear influence of age, seizure type, or etiology on
seizure reduction overall. Vagal nerve stimulation:
• VNS may prevent or lessen seizures by sending regular, mild pulses
of electrical energy to the brain via the vagus nerve.
?unclear mechanism of action
• VNS seems to improve seizures in children and patients with both
focal and generalized epilepsy.

Febrile seizures:

They occur in 2–5% of children and are the most common form of
childhood seizures.

Febrile seizures are the most common seizures of childhood, occurring in

2 to 5% of children between the ages of 6months and 6 years(peak 12-
18 months) with a temperature of 38°C or higher.

As defined by the American Academy of Pediatrics (AAP), febrile seizures

occur in the absence of intracranial infection, metabolic disturbance, or
history of afebrile seizures.

A simple febrile seizure is a primary generalized, usually tonic-clonic attack, 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.
 Work-up:

 Each child who presents with a febrile seizure requires a detailed history and a thorough
general and neurologic examination. Febrile seizures often occur in the context of otitis media,
roseola, or similar infections, making the evaluation more demanding.

 Lumbar puncture is recommended in children <12 months of age and possibly up to 18

months after their first febrile seizure to rule out meningitis because clinical symptoms of
meningitis may be subtle in this age group. For children >18 months of age, a lumbar puncture
is indicated if the history and/or physical examination otherwise suggest intracranial infection.

 Blood glucose should be determined in children with prolonged postictal obtundation

or those with poor oral intake (prolonged fasting). If clinically suggestive (e.g., in a history or
physical examination suggesting dehydration) serum electrolyte essay may be indicated.

 A CT or MRI is not recommended in evaluating the child after a first simple febrile seizure.

 The work-up of children with complex febrile seizures needs to be individualized.

This can include EEG and neuroimaging, particularly if the child is neurologically abnormal

Please note: Not all seizures associated with fever are FEBRILE seizures. It can be due to CNS
infection or a metabolic abnormality.

Treatment: In general, antiepileptic therapy, continuous or intermittent, is

not recommended for children with febrile seizures. Rectal diazepam is often
prescribed to be given at the time of recurrence of febrile seizure if lasting >
5 min.

Prognosis of Febrile seizures: The presence of a neurodevelopmental

abnormality, the occurrence of a family history of epilepsy, and the
occurrence of complex febrile seizures are associated with an increased risk
of subsequent epilepsy
 Miscellaneous Pediatric neurology cases

Benign Increase Tension (Idiopathic intracranial

hypertension) (pseudotumor cerebrii)

• Headache syndrome characterized by elevated ICP in the absence of ventricular

dilatation, intracranial mass lesion, or CSF abnormalities.
• The diagnosis requires an ICP greater than 25 cm of water as measured on LP in
addition to normal neuroimaging and CSF studies.
• Most common in obese females between 15 and 44 years of age

Secondary Causes of Intracranial Hypertension in Childhood

• CNS infection
• Cerebral sinus venous thrombosis
• Malnutrition
• Head trauma
• Endocrine abnormalities (hypoparathyroidism, hypothyroidism)
• Obesity
• Medications (Corticosteroids, Lithium, Vitamin A, Tetracyclines, Cis-retinoic
acid, Levothyroxine, Growth hormone)

Management

• An appropriate amount of spinal fluid should be removed by LP to lower the

closing pressure to less than 20 cm of water.
• Potentially causative medications should be stopped
• Weight loss and exercise should be recommended in the case of obesity
• Underlying medical conditions should be treated appropriately
• Medical treatment with carbonic anhydrase inhibitors (acetazolamide)
• Surgery is reserved for patients with rapidly deteriorating vision due to
papilledema.
• CSF shunting: ventriculoperitoneal shunt
 Acute Disseminated Encephalomyelitis (ADEM)
•An immune-mediated inflammatory demyelinating disease of the CNS,
which is typically transient and self-limiting.
•It is characterized by an acute or sub-acute encephalopathy with
polyfocal neurological deficits, typically presents as a monophasic
illness.
•Most of the case are reported post-viral infection or vaccination.
•Characteristic clinical features include a depressed level of
consciousness, change in behaviour and psychosis with multifocal
neurologic disturbances such as visual field defects, aphasia, motor and
sensory deficits, ataxia, movement disorders, focal or generalized
seizures,
•Neuroimaging is crucial in diagnosing ADEM . MRI shows multiple
hyperintense lesions in both white and gray matter

Treatment
• Because of its presumed autoimmune basis, the
most widely used therapy is immunosuppression