Contents

General Paediatrics : Growth  1

General Paediatrics : Development and Nutrition  8

General Paediatrics : Genetics, Infections and Metabolic Disorders  16

Neonatology  25

Systemic Paediatrics : Neurology  34

Systemic Paediatrics : Pulmonology and Cardiology  41

Systemic Paediatrics : Gastroenterology,

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Nephrology and Endocrinology  50

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 General Paediatrics : Growth 1

GENERAL PAEDIATRICS : GROWTH ----- Active space -----

Normal Growth [Link]

Growth Phases :
Period of growth Days of life
Ovum 0 - 14 days of gestation
Prenatal
Embryo 14 days - 8 weeks of gestation
(Before birth)
Fetus 9 weeks - Birth
Perinatal 22 weeks of gestation - 7 days after birth
Early 0 - 7 days after birth
Newborn

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Late 8 - 28 days after birth

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Infancy Till 1 yr
Toddler gm 1 - 3 yrs
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Postnatal Preschool 3 - 6 yrs
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School age 6 - 12 yrs

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Early 10 - 13 yrs
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Adolescence Mid 14 - 16 yrs

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Late 17 - 19 yrs
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Growth Patterns :
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A : Brain growth (Max at 2 yrs).

Parabolic.
B : Lymphoid growth (E.g : Tonsils).
>100% adult size.
C : Somatic growth.
Growth spurt after 12 yrs.
D : Gonadal growth

Age

Scammon growth curve

Anthropometry [Link]

Weight :
• Average birth weight : 2.9 kg.
• Low birth weight (LBW) : < 2.5 kg.

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----- Active space ----- Weight loss after birth : D/t loss of excess extracellular fluid.
Weight loss (In % in 1st week) Regains weight by
Term 10 10th day
Preterm 15 15th day

Weight gain :
• Doubles : 5 - 6 months
Age ↑ in weight
• Triples : 1 year After birth.
Till 3 months 30 g/day
• Quadruples : 2 years
Till 1 yr 400 g/month
1 - 7 yrs 2 kg/yr
>7 yrs 3 kg/yr
Height/Length (< 2 years) :
Arm span : Height equivalent in older children.

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Comparison Age

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Arm span (< 2.5 cm) < Length Birth Tip of finger
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Arm span = Length 11 yrs
to another
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Arm span (> 1 cm) > Length > 11 yrs

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Arm span
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Increase in height :
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Age Height
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At birth 50 cm
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At 1 year 75 cm
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At 2 years 87.5 cm (Height = Half of adult height at 18 to 24 months)

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> 2 yrs - Till puberty ↑ of 6 cm/yr

Growth spurt • Boys : 20 - 30 cm
at puberty • Girls : 16 - 28 cm
Adult 160 - 170 cm
• Doubles (100 cm) : 4 years.
• Triples (150 cm) : 12 years.
Circumference :
Mid arm circumference (MAC) :
• Nutritional status assessment.
• Age : 1 - 5 years.
Shakir’s tape :
• Normal : >12.5 cm
• Malnutrition : 11.5 - 12.5 cm
• Severe malnutrition : <11.5 cm
Shakir’s tape

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 General Paediatrics : Growth 3

Head circumference : ----- Active space -----

Brain growth assessment.
Age Head circumference & growth rate
At birth 33 - 35 cm (34 cm)
First 3 months 2 cm/month (40 cm)
3 - 6 months 1 cm/month (43 cm)
6 months - 1 yr 0.5 cm/month (46 cm)
1 - 2 yr 2 cm/year (48 cm)
At 12 yrs Adult value : 52 cm

WHO Growth Chart, Dentition & Puberty [Link]

97th/+2 SD
WHO Growth Chart : 85th/+1 SD
50th
Colours :

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15th/-1 SD
• Pink : Girls. 3rd/-2 SD

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• Blue : Boys.
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: Tall stature (>97th centile/>+2 SD).

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: Normal height.
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: Short stature (<3rd centile/<-2 SD).

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Height for age : Growth chart

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Dentition :
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1° dentition (Temporary) 2° dentition (Permanent)

Total no. of teeth 20 32
1st tooth to erupt Lower central incisor 1st molar
Time of eruption 6 months 6 yrs

Mixed dentition : Supernumerary teeth :

• Both temporary & permanent teeth. • Additional teeth.
• Age : 6 - 12 yrs. • M/c : In b/w 2 central incisors.

Delayed dentition : Non-appearance of teeth by 13 months.

Cause :
• Idiopathic (M/c).
• Malnutrition.
• Genetic syndromes (Down, Turner).
• Hormonal deficiency (GH, thyroid).

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----- Active space ----- Puberty Changes :

Females (8 - 13 years) : Males (9 - 14 years) :
Thelarche : Breast enlargement Testicular enlargement
Pubarche : Pubic hair appearance Penile enlargement
Growth spurt Pubarche
Menarche. Growth spurt

Axillary & facial hair.

Sexual maturity rating (SMR) : Tanner’s staging.
Stage 1 : Prepubertal.
Stage 3 : Growth spurt in girls.
Stage 4 : Growth spurt in boys.

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Stage 5 : Adult-like.

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Short Stature gm [Link]
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Height/age : < 3rd percentile or < -2 SD.

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Causes :
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• Normal variants (M/c than pathological causes).

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- Constitutional delay : M/c cause of short stature & delayed puberty.

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- Familial short stature.

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Mid parental height : Child’s genetic potential.

Father’s height + mother’s height • For boys : + 6.5
± 6.5
2 • For girls : - 6.5

Constitutional delay vs familial short stature :

Constitutional delay Familial short stature

Adult height Normal Short
Puberty
Delayed Normal for age
Bone age
Parent’s height Normal Short

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 General Paediatrics : Growth 5

US:LS Ratio : ----- Active space -----

Age US : LS Head
At birth 1.7 : 1 US : Upper segment
US LS : Lower segment
3 yrs 1.3 : 1
10 yrs 1:1 Pubic symphysis
>10 yrs 0.9 : 1
LS

Foot

Approach to short stature :

US : LS ratio is normal for age : US : LS ratio is abnormal for age : Disproportionate short stature
Proportionate short stature Short trunk (US) Short limbs (LS)
• Spondylo-epiphyseal dysplasia
• Normal variants • Achondroplasia

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• Hemivertebrae
• Chronic malnutrition (Stunting) • Rickets

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• Mucopolysaccharidosis (MPS)

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• GH deficiency • Congenital hypothyroidism
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• Pott’s disease : TB spine a@
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Anomalies of Head Size & Growth

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[Link]
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MICROCEPHALY
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Causes :
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1°/genetic microcephaly 2° microcephaly

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• Prenatal : Maternal TORCH infections, teratogenicity

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• Developmental anomalies
• Perinatal : Birth asphyxia
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• Genetic defects (Trisomies)

• Postnatal : Infections, trauma

Fetal Alcohol Syndrome : Fetal Hydantoin Syndrome :

VSD : M/c heart disorder. VSD : M/c heart disorder.

Cleft lip & palate

Microcephaly

Cardiac defects

Hypoplasia of nails and

phalanges : Characteristic

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----- Active space ----- Rett’s Syndrome :

• X-linked dominant disorder.
• Defect : MECP2 defect.
• Clinical features :
- Microcephaly
- Developmental regression Symptoms appear after 1 yr
- Stereotypes : Hand wringing movements (Normal at birth).
- Speech defects, ataxia

MACROCEPHALY
Causes :
• Hydrocephalus : ↑CSF.
• MPS
• Leukodystrophies :

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Megalencephaly.
- Alexander disease

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- Canavan disease
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• Thalassemia
↑Bony component.
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• Osteogenesis imperfecta
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Congenital Hydrocephalus :
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Normal CSF :
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• Adults : 150 mL.

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• Infants : 50 mL.
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Etiopathogenesis :
Anomalies Obstruction in CSF pathway.
Aqueductal stenosis (M/c) : Narrowing b/w 3rd & 4th ventricle.
Clinical features :
1. Macrocephaly :
1
>2 cm/month ↑in head circumference.
2. Bulging fontanelle. 2
3. Congested/prominent scalp veins. 4
4. Sunset appearance : Visible upper sclera
(D/t downward rotation of eyeball).
5. Cracked pot resonance : D/t ↑pressure.

Features of macrocephaly

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 General Paediatrics : Growth 7

Investigation : ----- Active space -----

• Postnatal MRI :

Enlarged lateral ventricle

Enlarged 3rd ventricle
Narrow aqueductal
stenosis

• Intranatal USG :
- Anomalies detected at 2nd trimester.
- Fetal ventriculomegaly (M/c cause : Aqueductal stenosis).
Management :
• Ventriculo-peritoneal shunt (M/c) : CSF shunting.

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• Endoscopic 3rd ventriculostomy.

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Disorders of Puberty gm
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[Link]
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Abnormal onset of 2° sexual characteristics :

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Males Females
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Delayed puberty > 14 yrs > 13 yrs

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Precocious puberty < 9.5 yrs < 8 yrs

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Delayed Puberty :
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Cause :
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Constitutional delay (M/c).

Central causes Peripheral causes
• Genetics (Gonadal defects) :
• CNS abnormalities (Pituitary/hypothalamus) :
- Turner : Streak ovaries.
Tumours, trauma, infiltration in pituitary.
- Klinefelter
• Syndromes : Kallman syndrome (Anosmia). Cryptorchidism.
- Noonan
Precocious Puberty :
Central causes (Pituitary, hypothalamus) : Peripheral causes :
Gonadotropin dependent (↑ LH, FSH) Gonadotropin independent
• Functional testicular tumors (↑testosterone) :
• Tumours : Seminoma, germinoma.
- Hypothalamic hamartoma • Autonomously functioning ovarian cyst :
(M/c overall & M/c in boys). McCune Albright syndrome.
- Glioma. - Precocious puberty (D/t ↑estrogen).
• Idiopathic (M/c in girls). - Polyostotic fibrous dysplasia.
- Cafe-au-lait macules.
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----- Active space -----

GENERAL PAEDIATRICS : DEVELOPMENT AND
NUTRITION

Four domains :
1. Gross motor. 2. Fine motor. 3. Language. 4. Social.

Gross & Fine Motor Milestones [Link]

Gross Motor Milestones :

Age Milestone attained
3 months Neck holding
4 months Roll over

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6 months Sit with support, Tripod posture

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Tripod posture
8 months Sit without support, crawling

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10 months gm
Stand with support, creeping
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Stand without support
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12 months
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Walk with support

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15 months Walk without support

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Crawling 18 months Running

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2 years Climbing with 2 feet/step

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3 years Climbing with 1 foot/step : Upstairs, rides tricycle

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4 years Climbing downstairs, hops

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Fine Motor Milestones :

Creeping
Age Milestone attained
4 months Bidextrous grasp
6 months Unidextrous grasp : Ulnar (Immature) palmar grasp, transfers objects
8 months Unidextrous grasp : Radial (Mature) palmar grasp
9 months Immature pincer grasp (Hold with sides of fingers)
12 months Mature pincer grasp (Holds with tip of fingers)
15 months Makes tower of 2 cubes
18 months Makes tower of 3–4 cubes
2 years Draws line, makes tower of 5–6 cubes
3 years Draws circle, makes tower of 8–9 cubes
4 years Draws cross (X)
4.5 years Draws square
5 years Draws triangle
6–7 years Draws diamond

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 General Paediatrics : Development And Nutrition 9

Palmar grasp : ----- Active space -----

Proximal (Palm) Distal (Fingers).

Immature pincer grasp Mature pincer grasp

Language, Social Milestones & Nocturnal Enuresis [Link]

Language Milestones :
Sounds Syllables Words.
Age Milestone attained
3 months Cooing (musical) sound

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6 months Monosyllables

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9 months Bisyllables
1 year 1–2 words gm
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18 months 8–10 words

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2 years 100 words, 2-3 worded sentences

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3 years Recognises and tells name, age, and gender

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4 years Tells stories and rhymes

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Social Milestones : Red Flag Signs in Development :

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Age Milestone Attained Milestone Upper age limit

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2 months Social smile Vocalization 6 months

3 months Mother regard Sitting 10 months
6 months Stranger anxiety, smiles at mirror image Standing 17 months
9 months Waves bye-bye, plays “peek a boo” Walking 18 months
1 year Simple ball game Single words 18 months
3 years Parallel play (Non-interactive)
4 years Group play (Interactive play)

Developmental Quotient (DQ) :

Developmental age (DA) • DA : Max. development attained.
DQ = X 100
Chronological age (CA) • CA : Actual age.
Developmental delay : DQ <70.
Global developmental delay :
• DQ <70 in ≥2 domains.
• M/c cause : Cerebral palsy.
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 10 Paediatrics

----- Active space ----- Nocturnal Enuresis :

Eneuresis at night at least twice a month beyond 5 yrs of age.
Types :
1° (M/c) 2°
Enuresis Since birth Previously dry
Cause Developmental/maturation delay of bladder Stress/UTI
• Improves with age
Mx Treat the cause
• Spontaneous resolution

Treatment for 1° nocturnal enuresis :

• Behavioural therapy : For age <6 yrs.
- Caffeinated drinks avoided.
- Regulated fluid intake (40% - 40% - 20% : Morning - noon - evening after 6pm).
- Timed voiding habits.

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• 1st line : Non-pharmacological No response Pharmacological :

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Motivational therapy + alarm therapy. • Oral desmopressin : Preferred.
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• Anticholinergic : Oxybutynin.
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Nutrition
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[Link]
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Breast Milk :
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Nutritional value : Calories (67 kcal/100 mL).

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Components Breast milk characteristics (Vs cow's milk)

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Carbohydrate ↑↑ (Lactose)
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Protein 3 times ↓, easily digestible

• Same
Fat
• Rich in PUFA (Eg : DHA) Helps in brain growth
Immunological properties :
• Colostrum : Ig A, anti-infective proteins, vitamin-A.
• Mature milk : PLAB.
- PABA : Low Protective against malaria.
- Lactoferrin
- Bifidus factor Antibacterial against E. coli.
- Ig A.
Deficient micronutrients : Storage :
Vitamins Supplementation • Room temperature : 6-8 hrs.
Vit K 1 mg, IM at thigh • Refrigerator : 24 hrs.
Vit D Oral, 400 IU/day till 1 yr • Freezer (-20°C) : Up to 3 months.

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 General Paediatrics : Development And Nutrition 11

Nutritional supplements for LBW babies : ----- Active space -----

1500 - 2499 g : LBW <1500 g : VLBW

1. Vit D • Human milk fortifier (HMF) + Iron :
Supplements 2. Iron (2mg/kg/day) : Till 40 wks
Started at 6-8 wks till 1 yr • Vit D + Iron : After 40 wks - 1 yr
LBW : Low birth weight ; VLBW : Very low birth weight.
Daily fluid requirement (mL/kg/day) :
D1 D2 D3 D4 D5
<1500 g 80 95 110 120 130
≥1500 g 60 75 90 105 120
Note : + 15ml/kg/day successive days.
Modes of Feeding :

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Age Modes of feeding

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34 wks Direct breast feeding INT
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Spoon/paladai feeds
32 - 34 wks Spoon/paladai feeds INT OGT/NGT
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28 - 31 wks OGT / NGT INT TPN, IV fluids

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<28 wks TPN, IV fluids

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OGT : Oral gastric tube, NGT : Nasogastric tube.

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TPN : Total parenteral nutrition, INT : If not tolerating.

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Breastfeeding in HIV Mother :

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Relative contraindication.
Management in neonate :
Up to 6 months >6 months >1 yr
Exclusive Complementary Breastfeeding gradually stopped
breastfeeding feeding over 1 month

ARV prophylaxis :
Risk stratification Prophylaxis
Low risk (Mother on ART) Nevirapine x 6 weeks
High risk (Mother not on ART,
Nevirapine + zidovudine x 12 weeks
high viral load)

Management in mother : Initiate ART.

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 12 Paediatrics

----- Active space ----- Malnutrition [Link]

Kwashiorkor vs Marasmus :
Kwashiorkor Marasmus

Age of onset > 1 yr < 1 yr

Predominant deficiency Protein (Albumin) Calories
Edema +++ Wasting of muscles, fat
Appearance Dull Alert

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Appetite ↓↓↓ Preserved

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Prognosis Poor Good

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• Flaky paint appearance :
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Hyperpigmentation of skin
Other features -
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• Flag sign : Alternate black & white

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pigmented hair
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WHO Classification :
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Moderate
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Characteristics Chart Severe malnutrition

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malnutrition
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Acute malnutrition (<3 months) Wasting ↓W/H

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-2 to -3 SD < -3 SD
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Chronic malnutrition (>3 months) Stunting ↓H/A

Edema - - - +
W : weight, H : Height, A : Age.

SEVERE ACUTE MALNUTRITION (SAM)

1. Weight/height : < -3 SD.
2. B/L pedal edema. Any 1 +ve
3. Mid Arm Circumference (MAC) : <11.5 cm.
Note :
Other causes of pedal edema : Heart failure, renal failure to be ruled out.
Management :
Assessment :
1. Good appetite. Yes Home management.
2. No complication.
3. No/minimal edema. No Hospital management.

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 General Paediatrics : Development And Nutrition 13

Hospital management : 10 steps. ----- Active space -----

Stabilization Rehabilitation
Day 1-2 Days 3-7 Weeks 2-6
Hypoglycemia
Hypothermia
Dehydration
Electrolytes
Infection
Micronutrients Without iron With iron
Cautious feeding
Catch-up growth
Sensory stimulation
Prepare for follow-up

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Complication of SAM : SHIELDED.

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• Sugars (Hypoglycemia : <54 mg/dl).
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• Hypothermia (Axillary temperature <35°C).
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• Infections : Gram -ve enterobacteriaceae (M/c).

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• Electrolyte disturbances ( ↓K+, ↓Mg2+, ↑Na+).

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• Dehydration.
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• Deficiencies (Micronutrients).
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Fluids in SAM on the basis of shock :

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• SAM with shock IV fluids RL + 5% Dextrose.

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• SAM without shock ReSoMal.

ReSoMal (Rehydration solution for malnourished children) :
ReSoMal mmol/L Reduced Osmolarity ORS (WHO) mmol/L
Glucose 125 75
Sodium 45 75
Potassium 40 20
Zinc 0.3 -
Copper 0.045 -
Magnesium 3 -
Osmolarity (mOsm/L) 300 245
Criteria for discharge :
• No edema : For at least 2 weeks AND
• Weight-for-height : ≥ -2 SD OR
• MAC : ≥ 12.5 cm.

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----- Active space ----- RICKETS

• Vit D deficiency Defective mineralization of bone (D/t defective Ca2+/PO4
metabolism).
• Site : Metaphysis.

Clinical Features :
Skull :
• Craniotabes : “Ping pong” ball appearance of skull.
1
• Wide open fontanelle.
• Frontal bossing.
Chest :
1. Rachitic rosary : String of beads/rounded appearance.
Costochondral junction widening/swelling.
2. Harrison’s sulcus/groove : D/t pull of diaphragm. 2

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Changes in chest

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Bones :

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1. Widening 2. Genu varus
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of wrist (Bowing of legs) (Lateral deviation of limbs)
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Investigation :
2
X-ray :
1. Splaying : Lateral deviation 1
of ends of long bone. 3
2. Fraying : Irregular edges.
3. Cupping.
X-ray of rickets
Refractory Rickets :
Rickets not responding to Vit D therapy.
Causes Inheritance
Vit D dependent rickets (VDDR) Vit D metabolism AR
Familial hypophosphatemic rickets Phosphate wasting X-linked dominant
Others CKD, RTA -

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Work up : ----- Active space -----

S. phosphate

High Low

CKD ABG : Acidosis

(D/t ↓excretion by kidney).
- +

PTH RTA.

High Normal

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VDDR. Familial hypophosphatemic rickets.

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OTHER MICRONUTRIENTS DEFICIENCY
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Deficiency Characteristics
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Bleeding (d/t collagen defects) :

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• Gum bleed
Scurvy Vitamin C
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• Perifollicular bleed : Cork screw appearance

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• Subperiosteal bleed : pseudoparalysis

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Acrodermatitis • Periorificial rash : B/L, symmetrical

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Zinc : SLC 39A4 gene defect.

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enteropathica • Diarrhoea
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• Corneal & conjunctival xerosis

• Keratomalacia (Thinning of cornea)
Xerophthalmia Vitamin A
• Bitot’s spots : Characteristic greyish white
plaques on bulbar conjunctiva.
Note : Copper deficiency mimics scurvy (D/t collagen defect).

Vit A :
Indication : Malnutrition.
Dosage :
Dose
<6 months 50,000 IU
6-12 months or <8 kg 1 lakh IU
>1 yr 2 lakh IU
Schedule : Day 0, 1, 14.
Note : Age of 1 yr + <8 kg : 1 lakh IU.
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----- Active space -----

GENERAL PAEDIATRICS : GENETICS,
INFECTIONS & METABOLIC DISORDERS

Chromosomal Aneuploidies [Link]

Down syndrome : Trisomy 21.

Klinefelter’s syndrome : 47, XXY (Supernumerary ‘X’ chr).
Turner Syndrome : 45, XO (Monosomy of X).
TRISOMY DISORDERS
Down Syndrome :

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M/c genetic disorder.

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Etiology :
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• Maternal meiotic non-disjunction of chromosome 21 : M/c (95%).
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• Robertsonian translocation : Translocation b/w 2 acrocentric chromosomes (4%).

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- Eg : t(14 ; 21), t(21 ; 21).

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- ↑ recurrence in subsequent children.

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• Mosaicism (1%).
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Clinical features :
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Upslanting palpable
Features
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fissure
• Mongoloid facies Flat face
Face & • Simian crease : Single transverse crease
Flat nose
lip • Sandal gap : ↑ gap b/w 1st & 2nd toe
• Clinodactyly : Curved little finger Low set ears
Endocardial cushion defects (M/c) : Protruding tongue
CVS
ASD + VSD + valve defect (Mitral valve) (D/t hypoplasia of
• Low IQ, hypotonia mandible)
CNS
• Premature Alzheimer’s disease Epicanthal folds
Duodenal atresia (M/c) X-ray : Double
GI
bubble sign
Leukemia : ALL > AML
Blood
< 3yrs : AML - M7 (M/c)

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 General Paediatrics : Genetics, Infections & Metabolic Disorders 17

Risk of recurrence : ----- Active space -----

Maternal age ≤ 35yrs : 1%.
> 35yrs : 1% + Age-related risk (Upto 4%).
Translocation t(14; 21) :
• Maternal inheritance : 10%.
• Paternal inheritance : 4-5%.
t(21; 21) : 100%.

Other Trisomies :
Trisomy 16 : M/c in spontaneous abortion.
Trisomy 18 : Edward syndrome Trisomy 13 : Patau syndrome
2 M/c trisomy.
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Holoprosencephaly :
Incomplete cleavage of
Prominent occiput forebrain

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Micrognathia

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Midline facial defects :

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VSD (M/c heart defect) Cleft lip/palate, cyclopia
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Clenched fist with VSD
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overlapping fingers Post axial (Little finger)

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polydactyly
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Rocker bottom foot

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KLINEFELTER & TURNER SYNDROME

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Klinefelter syndrome Turner syndrome

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Sex chromosomal aneuploidy M/c cause in males (47 XXY) M/c cause in females (45 X0)
Low IQ
IQ Normal IQ
(D/t supernumerary Chr. ‘X’)
Tall stature
Stature Short stature
(Height-for-age > 97th percentile/> +2SD)
• Flat/shield chest
Chest Gynaecomastia
• Wide spaced nipples
Limb Long limbs Cubitus valgus
• Streak ovaries (Rudimentary)
Cryptorchidism ↓ testosterone
Gonads • ↓ Estrogen Low fertility,
Delayed puberty, infertility
delayed puberty
• Webbed neck
↑ risk of malignancies :
• Heart defects :
• Male breast Ca
Other systems - Bicuspid aortic valve (M/c)
• Extragonadal germ cell tumours :
- Coarctation of aorta
Mediastinum (M/c)
• Horseshoe kidneys

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----- Active space -----

Klinefelter syndrome Turner syndrome

Infections [Link]

Varicella/Chicken Pox :
Clinical features :

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1. Prodrome (24-48 hrs) : Fever, Pleomorphic vesicular rash

l.c
malaise.

ai
gm
2. Rash : Centripetal. a@
• Trunk Face Extremities. Dew drops in rose petals :
ity

• Pruritis. Vesicles + erythema

ad

Rash
aa
ul

Complication : Secondary bacterial infections Staph aureus, Strep. pyogenes.

th
ba

Period of infectivity : 24-48 hrs before Rash till Crusting of lesions.

|
ow

Treatment : Acyclovir (Oral/IV) x 5 days, started within 24-48 hrs.

r
ar
M

Congenital Varicella : Congenital Rubella :

©

• Intrauterine TORCH infection. Most severe TORCH infection.

• Severe form of varicella.
Clinical features : Triad of
Clinical features : • Heart defects :
• Cortical atrophy : PDA, pulmonary stenosis, VSD.
- Microcephaly. • Cataract.
- Intellectual disability/low IQ, • Sensorineural hearing loss (SNHL).
developmental delay.
• Hypoplasia of limbs.
• Cicatricial (Irregular) scars.
Congenital CMV :
• M/c TORCH infection.
• 90% infants : Asymptomatic.
• Transmission (Most) : 3rd trimester.
• Symptomatic if transmission in 1st trimester Cytomegalic inclusion disease.
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 General Paediatrics : Genetics, Infections & Metabolic Disorders 19

• ↑ risk : Primary infection of mother with CMV during pregnancy. ----- Active space -----
Clinical features : Investigation :
• Cytomegalic inclusion disease. Viral isolation : Urine > Blood sample.
• Hepatosplenomegaly. • PCR.
• Chorioretinitis. • Serology IgM antibody.
• Petechiae.
• Microcephaly.

Complication :
SNHL (M/c cause of non-syndromic hearing loss) :
• Long term sequelae.
• M/c in symptomatic infants. Periventricular calcification

Congenital Toxoplasmosis :

om
• SNHL.

l.c
ai
• Chorioretinitis.
gm
a@
• Microcephaly.
ity

• Hydrocephalus (Less common).

ad
aa

Congenital Zika : Diffuse parenchymal calcification

ul
th

Emerging infection.
ba
|

Vector : Aedes mosquito.

ow
r
ar

Clinical features :
M
©

• Microcephaly.
• Visual defects : D/t macular scars.
• CTEV
• Arthrogryposis congenita : Limb deformities.

Measles :
Toxic appearance. Zika infection

Clinical features :
1. Prodrome : Fever (Intensity ↑ with appearance of rash).
2. Koplik spots :
• Appears on day 2-3.
• Opposite to 2nd molar.
• Rice grain appearance with
surrounding redness.
• Diagnostic.
Koplik spots
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 20 Paediatrics

----- Active space ----- 3. Maculopapular rash :

• Characteristic rash.
• Appears on day 4.
• Starts behind ear.
• Lasts for 4 days.
• Pigmentation on rash disappearance. Maculopapular rash

Complication :
Complications
• Otitis media (M/c).
Acute
• Bronchopneumonia (Most severe).
Subacute sclerosing panencephalitis (SSPE) :
Chronic
Myoclonic seizures + personality disturbances.
Investigation : Anti-measles antibody in CSF.

om
l.c
Exanthema Subitum/Roseola Infantum :

ai
gm
Etiology : HHV-6 (M/c)/HHV-7. a@
ity

Clinical features :
ad

• Non-toxic appearance.
aa
ul

• Maculopapular rash : On the trunk.

th
ba

• Fever intensity ↓ on appearance of rash.

|

Roseola infantum
ow

Hand Foot Mouth Disease :

r
ar
M

Self limiting disease.

©

Etiology : Enterovirus 71,

coxsackie virus A16.
Clinical features : Fever + .

Perioral blister Papulovesicular lesions

Erythema Infectiosum : (On hand & foot)
Etiology : Parvovirus B19.
Clinical features :
1. Fever + .
2. Slapped cheek appearance 3. Lacy/reticulated rash

Central
clearing
Erythematous
flushing of face

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 General Paediatrics : Genetics, Infections & Metabolic Disorders 21

Associations : ----- Active space -----

• Arthralgia/arthropathy.
• Aplastic crisis in chronic hemolytic anemia.
• Intrauterine transmission from mother : Severe anemia, myocarditis,
non-immune hydrops fetalis in neonate.
Scarlet Fever :
Etiology : Strep pyogenes (Group A β hemolytic).
Toxin : Pyrogenic exotoxin.

Clinical features :
• Fever + .
• Papular rash.
- Appears on day 2.

om
- Face Extremities.

l.c
- Sandpaper rash. Scarlet fever

ai
gm
- Pastia’s line : Accumulation of rash in skin creases.
a@
• Pharyngitis.
ity

• Strawberry tongue :
ad
aa

Coated tongue + swollen papillae Desquamation Reddened papillae.

ul
th

Treatment : Penicillin.
ba
|
ow

Metabolic Disorders [Link]

r
ar

CARBOHYDRATE RELATED DISORDER

M
©

Galactosemia :
Enzyme deficient Effect C/F
• Jaundice
Galactose-1-phosphate
↑ Galactose-1-phosphate • Chronic liver disease
uridyl transferase
accumulation • Oil drop cataract
(GALT) : M/c
• Proximal tubule dysfunction
Galactokinase (Benign) Oil drop cataract
Investigation :
Screening :
Test Galactosemia Glycosuria
Urine for reducing substances + +
Glucose oxidase method/dipstick testing - +
Confirmatory tests :
• ↑ RBC galactose-1-phosphate.
• ↓ GALT enzyme activity in RBCs.
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 22 Paediatrics

----- Active space ----- Management :

• To stop breastfeeding as it is C/I.
• Lactose free formula/soy based feeds.
Glycogen Storage Disorders (GSD) :

Liver > Muscle

Type Ia (M/c) : Type V (M/c) :
Von Gierke disease McArdle disease
Von Gierke disease : ↓ Glucose-6-phosphatase ↓ glucose Recurrent fasting hypoglycemia.
Hepatomegaly.
Doll-like facies.

Mx :

om
• Frequent feeding : To maintain euglycemia.

l.c
ai
• Uncooked corn starch supplement : Slow release glucose.
gm
a@
• Overnight tube feeding.
ity

• Orthotropic liver transplant : In advanced liver disease.

ad
aa
ul
th

McArdle disease :
ba

↓ muscle phosphorylase Exertional fatigue.

|
owr

Pompe Disease/Type II GSD : ↓ α-glucosidase.

ar
M

• Also a lysosomal storage disorder.

©

Skeletal : Floppy infant (Hypotonia).

• Muscles affected Smooth.
Cardiac : Hypertrophic cardiomyopathy.
• Mx : Enzyme replacement with rhGAA (Recombinant human α-glucosidase).

Lysosomal Storage Disorder (LSD) :

Gaucher’s disease : M/c LSD. Abdominal distension
d/t hepatosplenomegaly.
↓ glucocerebrosidase Glucocerebrosides
Short stature.
accumulation
Bone lesions with pain.
Investigation : Pancytopenia.
• X-ray : Erlen Meyer flask deformity.
• Biopsy : Crumpled tissue paper appearance.
Mx : Enzyme replacement of glucocerebrosidase.

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 General Paediatrics : Genetics, Infections & Metabolic Disorders 23

AMINO ACID DISORDER ----- Active space -----

Phenylketonuria :
M/c amino acid disorder.
X : Defective enzyme
Pathophysiology & clinical features : ↑↓ : Pathological features
X Phenylalanine hydroxylase
↑ Phenylalanine Tyrosine ↓ Melanin ↓
Tetrahydrobiopterin (BH4 )

↑ Metabolites : Phenylacetate Mousy odour. Hypopigmentation

of skin, hair, eyes
Brain damage :
• Low IQ.
• Seizures.
• Developmental delay.

om
Investigation : Treatment :

l.c
ai
• ↑ Phenylalanine concentration : • Low protein diet.
gm
a@
> 2mg/dL. • Restriction of phenylalanine.
ity

• Phenylalanine : Tyrosine ≥ 3 • Trial of sapropterin (Synthetic BH4 ).

ad
aa

(Normal : < 1 ).
ul
th

COPPER METABOLISM DISORDERS

ba
|

Wilson Disease :
ow

Defect : ATP 7B gene on chromosome 13.

r
ar
M
©

Accumulation of free S. Cu in liver, brain, cornea.

KF ring
Clinical features :
Liver Neurological Eyes
• Earliest features. • Seen in 2 decade.
nd

• Seen in 1st decade. • Tremor, dysarthria, dysphonia. • KF ring : Characteristic.

• Acute/chronic hepatitis • Psychiatric : Personality disturbances, • Sunflower cataract.
(Liver failure). psychosis, depression.

Investigation :
• ↓ S. ceruloplasmin (Cu transporting protein).
• ↑ Urine copper.
• Liver biopsy : Diagnostic Copper level > 250μg/gram dry weight of liver.
Management :
• Copper chelating agents : Trientene, D-penicillamine.
• Maintenance : Zinc (↓ absorption of intestinal copper).
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 24 Paediatrics

----- Active space ----- Menke’s Disease :

Genetics :
• Defect : ATP 7A gene on X-chromosome.
• Inheritance : X-linked recessive.
Pathogenesis : ↓ Cu level d/t malabsorption.
Clinical features :
Brain Hair
• Microcephaly • Brittle, breaks (Kinky hair)
• Developmental delay • Fracture of hair shaft
On microscopy
• Low IQ • Trichorrhexis nodosa : Nodular swelling

om
l.c
ai
gm
a@
ity
ad
aa
ul
th
ba
|
owr
ar
M
©

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 Neonatology 25

NEONATOLOGY ----- Active space -----

Newborn Care & Hypothermia [Link]

Normal parameters in newborn :

• HR : 120–160/min. • Meconium passage : Up to 48 hrs after birth.
• Respiratory rate : 40–60/min. • Urine passage : Up to 24 hrs after birth.
• BP : 60/40 mmHg. • Temperature : 36.5–37.5°C.
Care of Newborns :
1. Aseptic precautions :
• Clean hands. • Clean clamp.

om
• Clean surface. • Clean cord.

l.c
ai
• Clean cutting of cord.
2. Early skin to skin contact : gm
a@
ity

• To prevent hypothermia. • Establishes early breastfeeding.

ad

3. Delayed cord clamping : 30–60s after birth.

aa
ul

• ↓Incidence of anemia.
th
ba

• ↓Incidence of IVH (Intraventricular hemorrhage) in preterm baby.

|

4. Cleaning : Meconium, secretions, blood on the baby.

owr

• Vernix caseosa : Not cleaned. • Bathing : >24 hrs.

ar
M

5. Eye antibiotic prophylaxis : Not recommended.

©

Hypothermia :
Grades :
Temperature Features
Cold stress (Mild) 36–36.4°C Cold extremities, warm body
Moderate hypothermia 32–36°C
Cold body
Severe hypothermia <32°C
Prevention/Rx in a hemodynamically stable baby : Kangaroo mother care.
• Indicated for : Stable babies, preterm & LBW babies.
• Level : Mother’s chest.
• Posture : Vertical/upright, frog-leg (Folded leg).
• Exclusive breastfeeding.
• Head :
- Covered at all times.
- Site of heat loss d/t ↑body surface area.

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----- Active space ----- Rx in a hemodynamically unstable baby :

Warmer Incubator

Image

Mechanism of heat gain Radiation Convection

IUGR & Infant of Diabetic Mother [Link]

Weight classification according to gestational age : percentiles

AIIMS intrauterine growth charts : Percentile charts.

om
l.c
Grading :

ai
gm
• Large for gestational age (LGA) : >90th. a@

• Appropriate for gestational age (AGA) : 10-90th.

ity
ad
aa

• Small for gestational age (SGA) : <10th.

ul
th
ba

IUGR :
|

SGA + Wasting (Eg : Loose skin folds).

ow
r

Types :
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M

Asymmetrical IUGR (M/c) Symmetrical IUGR

©

Maternal cause (M/c) :

Cause Fetal causes : Genetic anomalies
Uteroplacental insufficiency
Head size Normal ↓
Ponderal index <2 >2
Ponderal index : Weight (g) x 100.
(Length in cm)3
Infant of Diabetic Mother (IDM) :
Pathogenesis :
Hyperinsulinemia Large for gestational age (LGA).
Hypoglycemia (Blood glucose : <45 mg/dL).
Characteristics :
Congenital anomalies : In infants born to overt diabetics.
• VSD : M/c.
• Caudal regression syndrome/Sacral agenesis : Most specific.
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 Neonatology 27

Normal Findings in Newborn & Neonatal Reflexes [Link] ----- Active space -----

Normal Findings in Newborn :

Condition Features
• M/c rash : Papulopustular lesion
Erythema neonatorum
• Appears >24 hrs
(Previously Erythema toxicum)
• Eosinophils in microscopy
Milia (Milk spots) Over face & nose
Epstein pearls White spots in palate
Breast enlargement D/t maternal estrogen
Few days after birth,
Bleeding per vaginum
d/t withdrawal of maternal hormones.
Mx : Reassurance.
Caput vs. Cephalhematoma :

om
Caput succedaneum Cephalhematoma

l.c
Scalp vein congestion d/t

ai
Cause Trauma d/t instrumental delivery
gm
prolonged delivery a@
Content Fluid Blood (Subperiosteal area)
ity

Characteristic Superficial, diffuse Deep, localised

ad
aa

Appearance At/Immediately after birth 12-24 hrs after birth

ul
th

• Jaundice (D/t heme breakdown)

Complications -
ba

• Linear skull fracture

|
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Neonatal Reflexes :
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ar

Characteristics
M
©

Moro reflex B/L, disappears 6 months after birth.

I/L extension.
Asymmetric tonic neck reflex (ATNR) On turning head
C/L flexion.
• Extension of hand on falling forward.
Parachute reflex (Post-natal reflex) • Appears 7-8 months after birth.
• Persists throughout life.
Moro variants :
• Absent moro : Brain damage Asphyxia, Hypoxic Ischemic Encephalopathy (HIE).
Fractures (M/c : Clavicle)/Dislocation.
• U/L Moro
Injury to nerve : Brachial plexus injury (Erb’s palsy).

Moro reflex ATNR

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 28 Paediatrics

----- Active space ----- Neonatal Resuscitation & Respiratory distress [Link]

NEONATAL RESUSCITATION
Order of resuscitation : Temperature Airway Breathing Circulation.
Initial steps :
1. Temperature : Warmer.
2. Airway :
• Positioning : Slight extension of neck.
• Suctioning of mouth Nose
(If necessary).
3. Breathing : Tactile stimulation.
• Rubbing the back.
• Tapping the soles.
If still no response, check HR.

om
If HR <100 bpm

l.c
ai
Positive pressure ventilation (PPV)
gm
a@
Bag & mask ventilation : Non-invasive
ity

• O2 concentration : HR >100 bpm :

ad

Sensitive indicator
- ≥35 wks : Room air (21% O2).
aa

to response.
ul

- <34 wks : 21–30% O2.

th
ba

• Absolute C/I : Congenital

|

diaphragmatic hernia (CDH).

ow
r
ar
M

If HR still <100 bpm

©

Chest compression + ventilation.

Ventilation corrective steps : • Two thumb technique at
If HR
M : Mask reposition. <60 bpm lower 1/3rd of sternum.
R : Reposition head. • ET tube + 100% O2.
S : Suction of secretions.
O : Open mouth. If HR still <60 bpm
P : ↑Pressure.
Inj. Adrenaline :
A : Alternate airway (ET tube).
• IV 1:10,000; 0.2 mL/kg.
• Umbilical vein : Preferred.

Resuscitation of Meconium Stained Liquor (MSL) baby :

• Initial steps PPV.
• Tracheal suctioning in non-vigorous babies (Weak cry) : Not recommended.

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 Neonatology 29

RESPIRATORY DISTRESS ----- Active space -----

Scoring system :
Criteria assessed Scoring system
Expanded new Ballard score (ENBS) :
Postnatal assessment of gestational age 1. Physical appearance
2. Neuromuscular parameters
Apgar score :
Assessment of physiological parameters
Done at 1, 5 mins after birth.
1. Silverman score
Assessment of respiratory distress
2. Downe score
APGAR score :
Sign 0 1 2
Limp Good flexion/
Activity (Muscle tone) Some flexion
(No tone) active movements

om
Pulse (Heart Rate) Nil <100/min > 100/min

l.c
ai
Cry/cough/
gm
Grimace (Reflex irritability) No response Grimace
sneeze
a@

Pink body, blue

ity

Appearance (Color) Blue/Pale Pink all over

ad

extremities (Acrocyanosis)
aa

Respiratory effort Nil Irregular, slow breathing Good cry

ul
th

Total : 10.
ba
|

Normal : 7-10.
ow

Low : <7 D/t birth asphyxia.

r
ar
M

Birth Asphyxia :
©

Features :
• APGAR : 0-3 at >5 minutes.
• Umbilical cord pH : <7.0 d/t lactic acidosis.
• Neurological damage : Hypoxic Ischemic Encephalopathy (HIE).
• Multiorgan damage.

HIE :
Sarnat & Sarnat staging :
Stage 1 : Mild Stage 2 : Moderate Stage 3 : Severe
Consciousness Normal/Irritable Lethargic Comatose
Brain stem Reflexes : Normal Reflexes : Absent
Sympathetic : ↑ Parasympathetic : ↑ HR : Variable
Autonomic functions
(↑HR) (↓HR) (ANS control lost)
Motor functions Normal Hypotonia ↓↓↓/Absent

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 30 Paediatrics

----- Active space ----- Treatment :

• Symptomatic Mx (As existing brain damage is irreversible).
• Induced hypothermia in (3° care settings).
- Temperature : 33° to 34°C.
- Indication : Moderate to severe HIE.
Neonatal seizures :
• HIE : M/c cause.
• Subtle seizures : M/c type.
• Phenobarbitone : Initial DOC.
• Vit B6 :
- Used in refractory seizures.
- Vit B6 ↑GABA (Inhibitory neurotransmitters) ↓Seizures.

Disorders of Preterm Birth & CDH

om
[Link]

l.c
ai
DISORDERS OF PRETERM BIRTH
Necrotizing Enterocolitis (NEC) : gm
a@
ity

D/t bacterial colonization of intestine.

ad
aa

Risk factors :
ul

• Immaturity of intestine.
th
ba

• Top feeds : Cow milk/Formula milk.

|
ow

Modified Bell’s Staging :

r
ar
M

Features Mx
©

IA Non-specific (Abdominal distension, vomiting)

Stage I • NPO/TPN
IB Blood in stools +
• Medical Mx :
II A Pneumatosis intestinalis (Air in intestine)
Stage II Broad spectrum IV
II B Pneumatosis portalis (Air in portal vein) antibiotics.
Stage III A Peritonitis
III III B Pneumoperitoneum Sx : Laparotomy.
RDS/HMD :
• RDS : Respiratory Distress Syndrome.
• HMD : Hyaline Membrane Disease.
Age : <34 wks (Preterm).

Pathogenesis : Surfactant deficiency Alveolar collapse Respiratory distress.

↓Lung compliance.

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 Neonatology 31

X-ray : ----- Active space -----

Air bronchogram sign

White out lung/Ground

glass appearance

Scoring systems :
Silverman scoring :
0 1 2
Upper chest retractions Synchronized Lagging See-saw

om
Lower chest retractions

l.c
Xiphoid retractions Nil Mild Severe

ai
gm
Nasal flaring a@
Grunt Absent Heard with stethoscope Heard without stethoscope
ity

Interpretation :
ad
aa

• <3 : Mild. • 4-6 : Moderate. • ≥7 : Severe.

ul
th

Downe scoring parameters :

ba

• Respiratory rate. • Air entry. • Grunting.

|
ow

• Retractions. • Cyanosis.
r
ar
M

Management protocol for preterm :

©

Extreme prematurity

<28 wks ≥28 wks

Intubated at birth or no/ Respiratory distress at birth

incomplete antenatal steroids
Silverman score
Prophylactic surfactant.
Mild/moderate Severe

CPAP Mechanical ventilation

If FiO2 ≥0.3 If FiO2 ≥0.3

Surfactant within 2 hrs (Early surfactant)

• Route : Endotracheal tube.
• INSURE technique :
Intubation Surfactant Extubation.

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 32 Paediatrics

----- Active space ----- CONGENITAL DIAPHRAGMATIC HERNIA (CDH)

Intestines Compress lung Pulmonary hypoplasia Respiratory distress.
On examination :
• Heart sounds in R hemithorax.
Intestinal
• Scaphoid abdomen. air
bubbles

Types :
Bochdalek hernia Morgagni hernia
Diaphragm defect Posterolateral Anterior
M/c side Left Right
Intestinal air shadows in
Prenatal markers of severity : thoracic cavity

om
• Lung-to-head ratio < 1

l.c
Poor prognosis.
• Liver in thoracic cavity

ai
gm
a@
Neonatal Jaundice [Link]
ity
ad

Physiological jaundice > Pathological jaundice.

aa
ul

Bilirubin ≥5 mg/dL : Visible jaundice.

th
ba

Kramer’s Rule :
|
ow

Cephalocaudal progression.
r
ar
M

Area Approx bilirubin level (mg/dL)

©

I. Head (Eyes) 5–7

II. Chest 7–9
III. Abdomen 9–11
IV. Limbs 11–13
V. Palms/soles (Last area) 13–15 : Danger sign (↑Risk of brain damage.)
Physiological Jaundice :
Breast feeding jaundice Breast milk jaundice
Appearance 1st week of birth 2nd/3rd week of birth
Pregnanediol in breastmilk Inhibits
Cause Inadequate breastfeeding
conjugation ↑Unconjugated bilirubin.
Mx
(Never stop Adequate breastfeeding Continue breastfeeding (Self-limiting)
breastfeeding)

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 Neonatology 33

Pathological Jaundice : ----- Active space -----

Criteria : Any one of the following.
• Appearance : <24 hrs of birth.
• Duration : >3 weeks.
• Involvement of palms & soles.
• Dark yellow urine & clay stools : ↑Conjugated bilirubin d/t obstruction.
Treatment :
↑Unconjugated bilirubin ↑Conjugated bilirubin
1. Phototherapy : Etiology : D/t obstruction.
• Blue light : 460–490 nm.
• Mechanism : Structural isomerisation Extrahepatic biliary atresia (EHBA) : M/c.
(Bilirubin Lumirubin). Rx : Hepatico-jejunostomy
• C/I : Conjugated hyperbilirubinemia Followed by
d/t bronze baby syndrome.
Liver transplantation.

om
2. Exchange transfusion :

l.c
Indication :

ai
• ↑ TSB than age specific cut-off
(Nomogram). gm
a@
• Features of bilirubin encephalopathy + .
ity

• Rh isoimmunization :
ad
aa

Cord blood Bilirubin >5mg/dL or

ul

Hb <10 g/dL.
th
ba

Kernicterus/Biliary Induced Neurological Damage (BIND) :

|
ow

AKA biliary encephalopathy.

r
ar

Brain damage
M
©

Acute (Neonatal) : Chronic (In older children) :

• Hypotonia Hypertonia. Extrapyramidal cerebral palsy
• Seizure. • Basal ganglia : M/c site affected.
• Lethargy. • Extrapyramidal effects : Chorea, athetosis.
• ↓Feeding. • Sensorineural hearing loss, enamel
hypoplasia, upward gaze palsy.

Opisthotonus : Arching of the back.

(Characteristic)

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 34

----- Active space -----

SYSTEMIC PAEDIATRICS : NEUROLOGY

Neural Tube Defects (NTD)  [Link]

Pathophysiology :
Anterior Cranial NTD.
Normal closure of neural pore Failure NTD
Posterior (M/c) Caudal NTD.
4th week of gestation

Risk Factors :
• Overt diabetes in mother
• Teratogenic drugs : Valproate, carbamazepine Multifactorial inheritance.
• Folic acid deficiency

om
l.c
ai
Defects :
gm
a@
Caudal NTD :
ity
ad
aa

Spina bifida occulta Meningocoele Meningomyelocoele

ul
th
ba
|
owr
ar
M
©

Protrusion of meninges Protrusion of meninges +

• Failure of fusion of Spinal nerve roots
posterior vertebral • Swelling in lumbosacral area.
arch. • Transillumination +ve (As content is CSF).
• M/c site : L5/S1. • Lower limb weakness.
• Asymptomatic (Spinal • Bladder incontinence.
-
cord & meninges are • ↑ Risk of infections
unaffected). (D/t rupture).

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 Systemic Paediatrics : Neurology 35

Cranial NTD : ----- Active space -----

Anencephaly Encephalocoele
Defect of skull
• Absent/ incomplete development
of cerebral hemispheres. Protrusion of brain tissue
• Intact brainstem
(Autonomic functions & Swelling
primitive reflexes are + ). M/c site : Occipital region.
Combined NTD :
• Craniorachischisis.
• Failure of fusion of skull + spine.

Investigations :

om
USG : IOC.

l.c
ai
• Done at 16 wks of gestation. Craniorachischisis
gm
a@
• Earliest identification : Anencephaly (10-12 wks).
ity

Amniotic fluid markers :

ad
aa

• AFP : Screening.
ul

• Acetylcholinesterase : Best marker.

th
ba
|

Management :
ow

Rx :
r
ar

NTD detected during

M
©

Preconceptional period
Antenatal period (Previously affected child + )

Terminate the pregnancy. Folic acid : 4000 mcg (4mg/day).

Prevention : Folic acid 400mcg (0.4mg) /day.

Febrile Seizure [Link]

• Fever + Seizure + Absence of CNS infection.

• Age : 6 months to 5 years.
Types :
Simple febrile (M/c type) :
• I episode of GTCS Criteria Complex/Atypical febrile seizures.
• Duration : < 15 mins not met
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 36 Paediatrics

----- Active space ----- Management :

Treatment :
1. Rx of fever : Antipyretics, tepid sponging.
2. Rx of seizure :
Stabilize : Airway, breathing, circulation
If seizure > 5 min
Benzodiazepine IV upto 2 doses : 1st line DOC
Diazepam per rectal
Alternatives if IV line can’t be secured
Midazolam intranasal
No response
Fosphenytoin / valproate / levetiracetam : 2nd line
No response
Refractory seizure :

om
• Continuous IV : Thiopental/midazolam/phenobarbital/propofol.

l.c
• EEG monitoring.

ai
gm
a@
Recurrence of seizures (Upto 5 yrs) :
ity

• Risk factor for recurrence :

ad
aa
ul
th

Major : Minor :
ba

• Age < 1 yr. • Family h/o febrile seizures/epilepsy.

|
ow

• Duration of fever < 24hrs. • Complex febrile seizure.

r
ar

• Fever 38 - 39°C • Lower S. Na+ at presentation.

M
©

(100.4 - 102.2˚F).
• If major risk factors + Add oral clobazam with PCT for first 48-72 hrs of
fever (Intermittent prophylaxis).
• Incidence of recurrence :
- 1st episode : 30%
- Age < 1yr at 1st episode 50%.
- ≥ 2 episodes
• Risk of recurrence of subsequent epilepsy :
Risk factors Risk stratification
• Simple febrile seizure
Low risk
• Recurrent febrile seizure
• Complex febrile seizure High risk : Ix to be done
• Family H/o epilepsy • EEG
• Neurodevelopmental abnormalities • MRI brain without contrast

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 Systemic Paediatrics : Neurology 37

Indications of lumbar puncture in febrile seizure : ----- Active space -----

• Age < 6 months.
• Unimmunised child aged 6-12 months.
• Pretreated with antibiotics.
• Clinical features of meningitis (Any age).

OTHER SEIZURES :
Features EEG Rx
• F > M.
Absence • Valproate : DOC.
• School-going children m/c. 3Hz spike & wave.
seizures • Ethosuximide.
• Provoked by hyperventilation.
Juvenile
myoclonic

om
epilepsy/ • Adolescents. 4-6 Hz polyspike
Valproate : DOC.

l.c
• Photosensitivity + . & wave.

ai
Janz
Syndrome gm
a@
ity

• < 1 year.
ad
aa

West • Jack knife seizure : Hypsarrhythmia : • Inj. ACTH : DOC .

ul

Sudden jerky movements.

th

syndrome/ High voltage • Vigabatrin :

ba

Infantile • Salaam spells : Spasm of spikes in chaotic (Doc if a/w

|
ow

spasm neck muscles (Flexors). background. tuberous sclerosis).

r
ar

• Developmental regression.
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Meningitis [Link]

Fever + signs of meningeal irritation.

Signs Of Meningeal Irritation :
Uncommon in young children (Especially infants).
1. Nuchal rigidity : Neck stiffness. 2. Kernig’s sign :
Resistance to extension of
leg while the hip is flexed.

3. Brudzinski’s sign :
Flexion of neck Flexion of hips & knees.

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 38 Paediatrics

----- Active space ----- Features in young children :

• Irritability.
• Bulging fontanelle d/t ↑ ICT.
• Poor feeding.

Etiology :
• Bacteria (M/c) :
- Streptococcus pneumoniae : Overall m/c.
- E. coli : M/c in neonates.
• Viral : JE M/c virus.

Investigation :
• CSF analysis by lumbar puncture : IOC.
Bacterial meningitis Viral meningitis

om
l.c
Sugar Low : Hypoglycorrhachia Normal

ai
Protein High gm Normal / ↑
a@

↑: Neutrophils ++ ↑: Lymphocytes ++
ity

WBC
ad

• Follow up Ix post Rx of meningitis : BERA (To rule out SNHL).

aa
ul
th

Treatment :
ba
|

1. IV antibiotics : 3rd gen. cephalosporins + Vancomycin

ow

x 2 weeks.
- Meropenem : If allergic to cephalosporin
r
ar
M

2. IV steroids : Dexamethasone.
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- ↓Inflammation.
- ↓ Incidence of sensorineural hearing loss (SNIHL) : M/c long term sequelae.

Special Situations :
Etiology Management
T lymphocyte deficiency Listeria monocytogenes Ampicillin
3rd gen.
C5-C8 complement deficiency N. meningitidis
cephalosporins
CSF leaks Strep. pneumoniae -
Shunt associated meningitis
(V-P shunt for congenital CONS (Coagulase negative
Shunt tap (IOC)
hydrocephalus) staphylococcus) : S. epidermidis

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 Systemic Paediatrics : Neurology 39

Cerebral Palsy(CP) [Link] ----- Active space -----

• M/c cause of global developmental delay (DQ < 7o in ≥ 2 domains).

• Insult to brain during development :
- Low IQ.
- Seizure.
- Vision & hearing defects.

Etiology :
Birth asphyxia Hypoxia & ischemia of brain CP.

Types :
Spastic quadriplegia
Spastic diplegia Extrapyramidal
(M/c)

om
Scissoring gait

l.c
Features All 4 limbs spasticity Chorea, athetosis
(D/t ↑ tone)

ai
• Parasagittal infarct gm
a@
Periventricular
Neuropathology • Multicystic Basal ganglia lesions
ity

leukomalacia
ad

encephalomacia
aa
ul

Birth asphyxia in Birth asphyxia in Chronic bilirubin

th

Etiology
ba

term neonates preterm neonates encephalopathy

Scissoring gait
|
ow

Duchenne Muscular Dystrophy (DMD)

r

[Link]
ar
M
©

• X-linked recessive.
• Defect : Dystrophin gene.
Clinical Features :
• Proximal muscle weakness (UL Shoulder muscles, LL Hip muscles) :
- Delayed walking.
- Difficulty in standing from sitting position : Elicited by Gower sign.
• Pseudohypertrophy :
- D/t fibrofatty deposition.
- Calf muscle (M/c site), tongue muscle.
• Low IQ (< 70).
• Progressive scoliosis Loss of ambulation (Wheelchair dependent).
• Cardiac failure.
• Respiratory failure : M/c cause of death.
• Death occurs in early 3rd decade.

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 40 Paediatrics

----- Active space -----

Pseudohypertrophy
Gower Sign Of calf Muscles

Investigations :
• Creatine phosphokinase (CPK) : 1st investigation.
• Muscle biopsy : Diagnostic.
- Muscle fibre atrophy.

om
- Fibro fatty tissue deposition.

l.c
• Dystrophin immunohistochemistry.

ai
gm
• Multiplex ligation probe dependent amplification (MLPA).
a@
ity
ad
aa
ul
th
ba
|
ow
r
ar
M
©

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 Systemic Paediatrics : Pulmonology & Cardiology 41

SYSTEMIC PAEDIATRICS : ----- Active space -----

PULMONOLOGY & CARDIOLOGY

Upper Airway Disorders [Link]

Laryngomalacia :
• M/c cause of stridor in infants.
• M/c congenital anomaly of larynx.

Clinical feature :
Stridor (Noisy breathing).

om
Postural variation Supine : Stridor + .

l.c
Prone : Stridor - .

ai
Investigation : Omega (Ω) shaped epiglottis on laryngoscopy. gm
a@
Management : Reassurance as spontaneous resolution by 18 months.
ity
ad

Acute Epiglottitis vs. Croup :

aa
ul
th

Acute epiglottitis Croup

ba
|

Age 3 - 6 yrs 6 months - 5 yrs

ow

Etiology H. influenzae type B Parainfluenza

r
ar
M

• Toxic appearance
• Well-looking
©

• Continuous drooling of saliva

• Croupy cough
C/f • Tripod position
• Gradually progressive
• Rapidly progressive
• Low grade fever + stridor
• Fever + stridor

Imaging

Thumb sign : Swollen epiglottis Steeple sign : Narrowed larynx

• Dexamethasone : ↓inflammation
• Airway management
• Racemic epinephrine nebulisation :
• IV antibiotics : 3rd gen
Rx - ↓Edema
Cephalosporins (Ceftriaxone,
- In moderate to severe croup
cefotaxime)
(Retractions, ↓SpO2)

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 42 Paediatrics

----- Active space ----- Lower Airway Disorders [Link]

Acute Bronchiolitis :
• 1st episode of wheeze following URTI.
• Seasonal presentation : Winter.
Etiology : Respiratory syncytial virus (RSV).
Clinical features :
• B/L Wheeze.
• URTI progresses to LRTI + fever.
Investigation :
X-ray : B/L hyperinflation due to air trapping effect of lung.
Treatment :

om
• Supportive (Self-limiting illness).

l.c
• Comorbidities + :

ai
gm
- Rx : Ribavirin. a@
- Prophylaxis : Palivizumab (Monoclonal antibodies against RSV proteins).
ity
ad

Pneumonia :
aa
ul

Causes under-5 mortality.

th

Etiology :
ba
|

• Strep. pneumoniae : Overall M/c.

ow

• RSV : M/c virus.

r
ar
M

• Pneumocystis jirovecii : M/c in HIV +ve children.

©

IMNCI guidelines (Based on revised WHO guidelines) :

Terminology Clinical features Management
No pneumonia Fever, cough/cold Home mx : Paracetamol
• Fever, cough/cold + Fast
Home Mx : Paracetamol +
Pneumonia breathing ± Chest indrawing
Oral Amoxicillin x 5 days
• SpO2 : Normal
• Hypoxia (or) Immediate referral to
• Danger signs : higher centre + 1st dose of IV
Severe pneumonia - Lethargy - Poor feeding antibiotic
- Convulsion - Cyanosis (Inj. ampicillin + gentamicin)

• Fast breathing :
Age Respiratory rate (Per min)
< 2 months > 60
2 – 12 months > 50
> 12 months > 40
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 Systemic Paediatrics : Pulmonology & Cardiology 43

• Wheeze + : Add bronchodilators x 5 days. ----- Active space -----

• Evaluate for TB : If persistent cough for > 14 days.

Foreign Body Aspiration :

• Young child < 4 years.
• Site : Rt bronchus (M/c location).
Clinical features :
• Sudden onset breathing difficulty.
• Monophonic U/L wheeze.
Note : Polyphonic wheeze is seen in asthma.
Investigation : X-ray.
Obstruction

om
Complete Partial

l.c
ai
gm
Atelectatic/collapse of lung field. Hyperinflation d/t air trapping.
a@

Management : Foreign body removal with rigid bronchoscopes.

ity
ad
aa

Asthma in Children :
ul
th

Recurrent wheeze d/t bronchoconstriction.

ba

Investigation :
|
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• ↓FEV1/FVC ratio.
r
ar

• Response to inhaled b2 agonist : 12%↑ in FEV1.

M
©

• Diurnal variation in PEFR/FEV1 : ≥ 20% ↑.

• Exercise challenge : ≥ 15%↓in FEV1.
Asthma management guidelines :
Symptoms Treatment
Intermittent Infrequent < 2 episodes/month Relievers (SOS) : SABA + ICS
Mild ≥ 2 episodes/month or ≥ 1 night
Low dose ICS (Daily)
persistent time awakening/month
Moderate Medium dose ICS (Daily) OR
Daily episodes (Not continuous)
persistent Low dose ICS (Daily) + LABA
• Daily episodes
Severe
• Continuous limitation of High dose ICS (Daily) + LABA
persistent
activity
ICS : Inhaled corticosteroids ; SABA : Short acting b2 agonist ;
LABA : Long acting b2 agonist.
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 44 Paediatrics

----- Active space ----- Metered dose inhaler (MDI) :

• 12 yrs : MDI.
• 4 - 12 yrs : MDI + spacer.
• < 4 yrs : MDI + spacer + face mask.
Management of acute exacerbation : MDI
First line :
1. O2 Supplementation : SpO2 > 92%.
2. Salbutamol nebulization : Once every 20 mins in 1st hr ±
Ipratropium nebulization (If no response with salbutamol).
3. Systemic steroid : Oral prednisolone or IV hydrocortisone.
Second line :
1. MgSO4.
2. Terbutaline + theophylline.

om
l.c
Cystic Fibrosis (CF)

ai
[Link]

• Autosomal recessive. gm
a@
ity

• CFTR mutation (Cystic fibrosis transmembrane regulator).

ad

• Del F508 mutation (M/c) : Deletion of phenylalanine at 508 position.

aa
ul

• Previously known as mucoviscidosis

th
ba

Defect : Cl- channel inactivation d/t

|
ow

misfolded proteins.
r
ar
M
©

Clinical features : Healthy lumen CF lumen

Manifestations
• Recurrent pneumonia (M/c) • Bronchiectasis
RS - Staph. aureus (M/c) • B/L nasal polyp
- Pseudomonas aeruginosa
• Meconium ileus (Early manifestation)
• Distal intestinal obstruction syndrome (DIOS)
• Malabsorption
• Pancreatic insufficiency (In 85% of cases)
GIT - Steatorrhoea ↓Fat absorption
- ↓Vit A, D, E, K absorption (Exocrine)
- Diabetes (Endocrine)
• Cholestasis, biliary cirrhosis
• B/L absent vas deferens Azoospermia Male infertility
Miscellaneous
• Excessively salty sweat d/t ↑Na, ↑Cl

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 Systemic Paediatrics : Pulmonology & Cardiology 45

Diagnostic criteria : ----- Active space -----

A. Suspect if :
Typical clinical features OR Family OR Immunoreactive trypsinogen test
(RS, GIT or GU) history (IRT) in newborn screening +
B. Confirmatory :
- 2 elevated sweat chloride on separate days > 60 mEq/L OR
- 2 CFTR mutations + : Best investigation OR
- Abnormal nasal potential difference measurement.
Treatment :
CFTR modulators

CFTR potentiator : CFTR corrector :

• ↑Duration of Cl channel opening. • Modifies protein folding.
• Eg : Ivacaftor. • Eg : Lumacaftor.

om
l.c
ai
Fetal Circulation & Acyanotic Congenital Heart Disease [Link]
gm
a@
Fetal Circulation :
ity

Placenta dependent circulations.

ad
aa

Fetus
ul

Umbilical vein Umbilical artery

th

(Oxygenated blood) (Deoxygenated blood)

ba

Placenta
|

Communications :
ow
r
ar

Communications
M
©

Ductus arteriosus Pulmonary artery & aorta

Foramen ovale Connects 2 atria at interatrial septum
Ductus venosus Connects umbilical veins & IVC

Closure post birth :

1. Umbilical vessels. Early Closure of ductus arteriosus
2. Ductus venosus.
Functional 10-14 hrs after birth
3. Foramen ovale.
Anatomical 10-21 days after birth
4. Ductus arteriosus. Late
Nadas Criteria :
Major criteria Minor criteria
• Systolic murmur ≥ Grade 3 or thrill + • Systolic murmur < Grade 3
• Any diastolic murmur • Abnormal S2
• Central cyanosis • Abnormal ECG
• Congestive heart failure • Abnormal CXR, abnormal BP
1 major or 2 minor criteria Congenital heart disease.
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 46 Paediatrics

----- Active space ----- Acyanotic Heart Disease :

M/c type of CHD : Based on etiology

Obstruction : L - R shunt :
Coarctation of aorta. • VSD.
• ASD.
• PDA.
L - R shunt :
M/c type Characteristics
• Pansystolic murmur
VSD (M/c) Perimembranous VSD
• Site : Left 4th ICS, parasternal area
• Wide, fixed split S2
ASD Ostium secundum ASD
• No murmur
• ↑Incidence in preterm

om
PDA - • Continuous, loud, machinery murmur

l.c
ai
• Site : Left 2nd ICS
Management : gm
a@
ity

• VSD & ASD : Surgical Mx.

ad

• PDA : In preterm babies, medical Mx can be tried.

aa
ul

- NSAIDs (DOC) d/t COX - ↓Prostaglandin.

th
ba

- Ibuprofen >> Indomethacin (As Ibuprofin has ↓risk of nephrotoxicity &

|

necrotizing enterocolitis).
ow
r
ar

Coarctation of aorta :
M

• Partial narrowing of aorta ↓Flow in descending aorta.

©

• Type : Juxtaductal (M/c).

Clinical features :
• Weak femoral pulses.
• Radiofemoral delay.
• Hypertension in upper limbs d/t ↑afterload in heart.
Compensation :
Collaterals formation ↑size intercostal arteries Inferior rib notching.

Cyanotic CHD [Link]

↑Pulmonary blood flow ↓Pulmonary blood flow

• Transposition of great arteries (TGA) : • Tetralogy of Fallot :
M/c cyanotic CHD in neonates M/c cyanotic CHD overall
• Truncus arteriosus • Ebstein anomaly
• Total anomalous pulmonary venous communication (TAPVC) • Tricuspid atresia

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 Systemic Paediatrics : Pulmonology & Cardiology 47

Tetralogy of Fallot : ----- Active space -----

Best prognosis in cyanotic CHD (Longest survival). Upturned apex due to RVH
Features :
1. Overriding of aorta.
2. Right ventricular hypertrophy (RVH).
3. Subpulmonary stenosis d/t infundibular hypertrophy
AKA right ventricular outflow tract obstruction.
4. Ventricular septal defect. Boot shaped heart on X ray
Complications :
• Polycythemia (D/t chronic hypoxia) Thromboembolism.
• Brain abscess.
• Cyanotic spells : Infundibular spasm Worsens Cyanosis.
Management :

om
• b blockers : ↓infundibular spasms. • Morphine : ↓hyperventilation.

l.c
• O2 supplementation. • a agonists

ai
↑Vascular resistance.
• NaHCO3 : For acidosis gm
• Squatting/knee chest posture
a@

Ebstein’s Anomaly :
ity
ad

• M/c CHD associated with arrhythmia.

aa

• Downward displacement of tricuspid valve ↑RA size.

ul
th

Associations :
ba
|

• Wolff Parkinson White syndrome (WPW) :

ow

M/c type of arrhythmia : PSVT

r
ar
M

Rx : IV adenosine 0.1 mg/kg (Max : 6 mg).

©

Box shaped heart

Supracardiac TAPVC :
O2 saturation equal in all 4 heart chambers.
Pulmonary veins
SVC
RA LA Lungs

RV LV Snowman/Figure of 8 appearance
TGA :
Egg on string appearance

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 48 Paediatrics

----- Active space ----- Acute Rheumatic Fever [Link]

Etiology :
Age : 5 - 15 years.
Post streptococcal infection :
• Group A b-hemolytic streptococcus.
• Pharyngitis After few weeks Rheumatic fever.

Modified Jones Criteria (2015) :

For high risk population :
Major Minor
• Pancarditis (90%) : Clinical/subclinical • Monoarthralgia
• Arthritis (Mono/poly) or polyarthralgia • Fever ≥ 38°C
• Sydenham’s chorea • ESR ≥ 30 mm/h in 1st hr

om
l.c
• Erythema marginatum OR CRP ≥ 3.0 mg/dL

ai
gm
• Subcutaneous nodules a@ • Prolonged PR interval
ity

Dx :
ad

1. 2 major OR 1 major + 2 minor OR 3 minor (In recurrence).

aa

+
ul
th
ba

2. ASO titre.
|
ow

Prophylaxis :
r
ar

2° prevention.
M
©

Drugs :

Penicillin Erythromycin
(If allergic to penicillin).
Parenteral Oral
Benzathine penicillin (Penicillin G) : Penicillin V
• IM every 3-4 weeks. 250 mg twice daily.
• < 30 kg : 6 lac units.
• > 30 kg : 12 lac units.
Duration :
Duration (Whichever is longer)
Without carditis 5 yrs or till 18 yrs
With carditis 10 yrs or till 25 yrs
With RHD or following Sx Lifelong
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 Systemic Paediatrics : Pulmonology & Cardiology 49

Kawasaki Disease [Link] ----- Active space -----

• Age < 5 years.

• Medium vessel vasculitis : Affects coronary artery (20 - 30%).
• M/c childhood vasculitis in India.

Stages :
If treated (Can prevent complications)

Acute Subacute Recovery

(1-2 weeks) (3-4 weeks)

• Fever ≥ 5 days. A. Periungular skin peeling.

• Any 4 out of 5 (CREAM) : B. Complications :
1. B/L non-purulent conjunctivitis. - Cardiac ischemia.

om
2. Maculopapular rash (Non- - Coronary aneurysms

l.c
specific). & thrombosis.

ai
3. Edema. gm
a@
4. U/L cervical lymphadenopathy.
ity
ad

5. Mucosal involvement :
aa

Strawberry tongue.
ul
th
ba
|
row
ar
M
©

1 3 5 A

Treatment :
• IVIg : Drug of choice.
• High dose aspirin :
- Anti-inflammatory.
- 80-100 mg/kg/day.

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 50

----- Active space -----

SYSTEMIC PAEDIATRICS : GASTROENTEROLOGY,
NEPHROLOGY AND ENDOCRINOLOGY

Congenital Anomalies in GIT [Link]

Esophageal Atresia :
Clinical features :
• Onset : Immediately after birth while feeding.
• Excess frothing.
Obstruction of upper GI
• Vomiting.
• Aspiration Respiratory distress.

om
Associations :

l.c
Coiling of NG tube

ai
Tracheoesophageal fistula :
• M/c associated anomaly. gm
a@
ity

• M/c type : Type C Proximal esophageal atresia with distal

ad

tracheoesophageal fistula.
aa
ul
th

Hypertrophic Pyloric Stenosis (HPS) :

ba

Hypertrophy of circular muscle fibers in pylorus Obstruction.

|
ow

Clinical features :
r
ar

• Onset at 2-3 weeks after birth.

M
©

• Projectile/non-bilious vomiting.
• Dehydration.
• Hypokalemic hypochloremic metabolic alkalosis with
paradoxical aciduria.
• Erythromycin is associated with causing HPS. Pylorus hypertrophy
On examination :
• Olive-shaped epigastric mass.
• Visible peristalsis from left to right.
Investigation :
USG : IOC
• Pyloric muscle thickness : ≥4mm.
• Pyloric channel length : ≥16mm.
Treatment :
• Correction of dehydration : NS + K+ Fluid of choice USG showing hypertrophy
• Surgical Mx : Ramstedt’s pyloromyotomy. of the pylorus

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 Systemic Paediatrics : Gastroenterology, Nephrology And Endocrinology 51

Hirschsprung Disease/Aganglionosis : ----- Active space -----

Absence of ganglion No relaxation of rectum Narrowed rectum.
Clinical features :
• Delayed passage of meconium.
• Abdominal distension.
Investigation :
• Contrast enema.
• Rectal biopsy : IOC.
- Absence of ganglion. Contrast enema showing
narrowed rectum
- Hypertrophied nerve fibers : Acetylcholine esterase stain.
Treatment : Resection & anastomosis.
Celiac Disease :
Malabsorption disorder.

om
Etiology :

l.c
ai
Genetics : HLA DQ2 & HLA DQ8 predisposition.
gm
a@
Gluten hypersensitivity (Barley, rye, oats, wheat).
ity

Clinical features :
ad
aa

• Chronic diarrhea (Non-infectious). Onset after initiation of

ul
th

• Short stature. complementary feeds.

ba

• Failure to thrive.
|

(After 6 months.)
ow

• Anemia.
r
ar

Investigation :
M
©

Screening : Check total IgA & anti-TG2.

+ -

Estimate anti-TG2 titres Rules out celiac.

>10 times N <10 times N

+ EGD & biopsy : Check for

• Villous atrophy + Confirms celiac disease.
Estimate EMA levels (Best) • Crypt hyperplasia

+ -
TG2 : Tissue transglutaminase.
Confirmed celiac disease EMA : Endomysial antibody.
EGD : Esophagogastroduodenoscopy.
Mx : Gluten free diet.
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 52 Paediatrics

----- Active space ----- Diarrhoea [Link]

Acute Diarrhoea :
Cause of under-5 mortality.
Duration : <7 days
Etiology :
• Rotavirus (Overall M/c.)
• ETEC : Enterotoxigenic E. coli (M/c bacteria).
Note : Shigella flexneri is M/c cause of dysentery in children.

IMNCI management guidelines :

No dehydration Some dehydration Severe dehydration
Features Active, alert child Irritability, thirst. Lethargic
Skin pinch Fast response (<1 sec) Slow response (≤2 sec) Very slow (>2 sec)

om
Plan A

l.c
Replace ongoing loss per loose

ai
Plan B Plan C
gm
stools with ORS :
Management Rehydration with ORS : Rehydration with IV fluids :
a@
• <2 yrs : 50-100 mL
75 mL/kg over 4 hrs. RL + 5% dextrose at 100 mL/kg
ity

• 2-10 yrs : 100-200 mL

ad

• >10 yrs : As much as required

aa

Note : Skin pinch not reliable in malnutrition.

ul
th

Plan C : (D/t loss of subcutaneous fat)

ba

Based on age.
|

Age 30 mL/kg 70 mL/kg

row
ar

<1 yr 1 hr 5 hr
M
©

>1 yr 30 min 2.5 hr

WHO low osmolar ORS :

Components Osm (mosm/L)
Glucose 75
Transport by SGLT-1
Na 75
k 20
Cl 65
Citrate 10
Total 245

Zinc : For growth of epithelium.

Age Dose Rx duration :
<6 months 10 mg/day
x 2 weeks
>6 months 20 mg/day

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 Systemic Paediatrics : Gastroenterology, Nephrology And Endocrinology 53

Causes of Seizures + Diarrhoea in a Child : ----- Active space -----

• Febrile seizure.
• Cerebral venous or sagittal sinus thrombosis (D/t dehydration)
• Metabolic & electrolyte imbalance.
- Hypoglycemia.
- Hyponatremia.
- Hypernatremia.
Liver Disorders [Link]

Inherited Hyperbilirubinemia/Syndromic Jaundice :

Autosomal recessive (M/c inheritance).
Syndrome Defect Age group
Unconjugated Hyperbilirubinemia
Older children

om
Gilbert (Overall M/c) ↓ UDP-GT (Mild)
Intermittent jaundice

l.c
ai
Crigler Najjar Type-I Absent UDP-GT (Severe)
gm
Neonatal
Crigler Najjar Type-II Partial absence of UDP-GT
a@
ity

Conjugated Hyperbilirubinemia : Transporter defect

ad

Dubin Johnson ABCC transporter Late onset :

aa
ul

Rotor syndrome OATP transporter Adolescent, adult

th
ba

ABCC : ATP Binding Canalicular Cassette

|
ow

OATP : Organic Anion Transport Protein

r
ar

Neonatal Cholestasis :
M

• ↑Conjugated bilirubin d/t obstruction.

©

• Total conjugated bilirubin :

a. >1 mg/dL or
b. >20% of total S. bilirubin (TSB) if TSB >5 mg/dL.
Etiology :
• Extrahepatic biliary atresia (EHBA) : M/c cause.
• Neonatal hepatitis (Idiopathic).
Clinical feature : Pale stool & dark colored urine.
Liver biopsy :
Neonatal hepatits (Idiopathic) EHBA
Hepatic architecture Disarray of hepatic lobules Intact
Giant cells + + + +
Portal reaction Lymphocytic infiltrates + Fibrosis + +
Neo and periductal proliferation - +

Paediatrics Revision • v4.1 • Marrow 8.0 • 2025

 54 Paediatrics

----- Active space ----- Congenital Bladder Anomalies & UTI [Link]

Congenital Bladder Anomalies :

Omphalocele :
Sac covered intestine.
Exposed bladder

Elephant trunk ileum :

Exposed terminal ileum.
Ectopia vesicae/bladder extrophy Cloacal exstrophy

UTI :
Etiology : E. coli (M/c).
Investigation :
Urine culture : Diagnostic.

om
• Specimen : Mid-stream clean catch urine sample.

l.c
ai
• Dx : ≥ 105 CFU/mL (CFU : Colony Forming Unit).
Follow up : gm
a@
ity

Investigations Timings Rationale

ad
aa

USG KUB Any time (During/after Rx) Screening

ul
th

Detect anomalies causing recurrent UTI

ba

MCU (Micturating Cysto-Urethrogram) 2-4 weeks after treatment

Eg : PUV (Posterior Urethral Valve)
|
ow

DMSA scan 3-4 months after treatment Detect renal scars

r
ar

Mx algorithm :
M
©

USG

Normal Abnormal

1st episode of UTI Recurrent febrile UTI,

[Link] UTI in <2yr child Micturating Cystourethrography
No further evaluation
Normal Abnormal (VUR) DMSA scan.

Posterior Urethral Valve :

M/c cause of obstructive uropathy in male child. ↑Bladder size
Clinical feature : Recurrent UTI.
Management : Cystoscopic fulguration of valve. ↑Urethral size

PUV in MCU
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 Systemic Paediatrics : Gastroenterology, Nephrology And Endocrinology 55

Renal Disorders [Link] ----- Active space -----

Nephrotic Syndrome :
Characteristics :
1. Massive proteinuria : > 40 mg/m2/hr or 3+/4+ in urine dipstick
2. Hypoalbuminemia
3. Generalized edema
4. Hyperlipidemia
Etiology : Minimal Change Disease (MCD) M/c.
Minimal change disease Significant change disorders (Eg : FSGS)
Age at onset 2-6 years Late adolescent/adults
Hematuria/Hypertension - ±
Renal function Normal Abnormal/↓↓ leads to CKI

om
Response to steroids Excellent Resistant

l.c
ai
Based on steroid response :
gm
a@
Urine albumin : Nil/trace (Or) 3 consecutive early morning
Remission :
ity

Proteinuria < 4 mg/m2/hr specimens.

ad

• Absent remission despite daily steroid for 6 wks.

aa

Steroid resistance
ul

• Rx : Calcineurin inhibitors (E.g., Cyclosporin, Tacrolimus)

th
ba

• 2 consecutive relapses :
|

- While on alternative day steroid (Or)

ow

Steroid dependence - Within 14 days of steroid discontinuation

r
ar

• Rx : Steroid sparing agents (Eg., Levamisole,

M

Mycophenolate)
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Glomerulonephritis :
Characteristics :
• Hematuria :
- Dysmorphic RBC with RBC casts in urine.
- Cola-colored urine.
• Hypertension.
• Periorbital puffiness.
• Mild proteinuria.

Etiology :
• Post-streptococcus glomerulonephritis (PSGN).
• Group-A β hemolytic streptococcus.

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 56 Paediatrics

----- Active space ----- Clinical features : Note :

• Age : 5-15 yrs Rheumatic fever:
• Pharyngitis 1-2 wks • Age : 5-15 yrs.
• Pyoderma 3-6 wks PSGN
• Post streptococcal infection.
Investigation :
• ↑ASO titre, ↑Anti-DNase B
• ↓Serum C3.
Treatment : Conservative (Self-limiting).

Hemolytic Uremic Syndrome (HUS) :

Schistocytes
• Acute kidney injury + (Lysed RBC)
• Occurs post infection :
Diarrhea (MIC) 5-7 days HUS : D+ HUS.
Etiology : Peripheral smear

om
• EHEC : O157:H7, O104:H4.

l.c
ai
• Shigella dysenteriae.
gm
a@
Toxin : Shiga, vero-like toxin.
ity

Investigation :
ad

PS : Thrombocytopenia, schistocytes (D/t hemolysis).

aa
ul

Management :
th
ba

• Supportive Mx of AKI : Fluid & electrolytes

|
ow

• Monitor:
r
ar

- Serum creatinine.
M

- Urine output.
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- eGFR : Schwartz formula Length (cm) x 0.4 (Constant : k)/S. creatinine.

• Antibiotics : No role (D/t lysis of bacteria Further toxin release).
Henoch Schonlein Purpura (HSP)/IgA Vasculitis :
• Small vessel vasculitis.
• D/t IgA deposition.
Clinical features :
• Post prandial abdominal pain.
• Joint pain.
• Nephritis.
• Non-thrombocytopenic palpable purpura. Non thrombocytopenic palpable
purpura
Management : Steroids.
Indications : Severe GI complications (Abdominal pain/bleeding/
intussusception).

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 Systemic Paediatrics : Gastroenterology, Nephrology And Endocrinology 57

Endocrinology Disorders [Link] ----- Active space -----

Congenital Hypothyroidism :
Thyroid dysgenesis (Hypoplasia, aplasia, ectopic thyroid)
Clinical features :
• ↓Metabolism.
• Hypothermia.
• Dry skin.
• Wide open fontanelle & late closure. Macroglossia
• Hoarse cry.
• Delayed passage of meconium.
Note : C/f same in cretinism. Umbilical
Investigation : hernia
• Screening : ↑TSH at day 2-4. Clinical features
• Radiology :

om
l.c
- USG Thyroid.

ai
gm
- Radioisotope scan with I123 > Tc99. a@
Congenital Adrenal Hyperplasia :
ity

Biochemical pathway :
ad
aa

Cholesterol
ul
th
ba

Pregnenolone X 17 α hydroxypregnenolone Dehydroepiandrosterone

|

17 α-Hydroxylase
ow

Progesterone X 17 α hydroxyprogesterone Androstenedione

r
ar
M

X 21-Hydroxylase X 21-Hydroxylase
©

Testosterone
Deoxycorticosterone 11-deoxycortisol
11 β-Hydroxylase
Corticosterone
Cortisol
Aldosterone

Clinical features :
Enzyme deficiency Aldosterone Cortisol ACTH Testosterone
↓
21 hydroxylase (M/c) ↑
(↓BP → Shock)
• Ambiguous genitalia.
↓ (In females)
↓ ↑
(BP↑↑) • Precocious puberty. (In
11 β hydroxylase (Hypo (Hyper
(D/t 11-deoxycorticosterone males)
glycemia) pigmentation)
having mineralocorticoid activity)
↑ ↓
17 α hydroxylase
(↑ BP) Under virilisation. (In males)
Ix for 21-Hydroxylase deficiency : ↑17 α hydroxyprogesterone in neonatal screening.
Paediatrics Revision • v4.1 • Marrow 8.0 • 2025