Pediatrics Concept Book

Concept Based Learning
Video Companion on Each Chapter
Next Generation
Comprehensive Review Series
“CRS PAEDIATRICS”
Active Recall Based

Integrated Edition
Published by Delhi Academy of Medical Sciences (P) Ltd.
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ISBN : 978-93-89309-41-6
First Published 1999, Delhi Academy of Medical Sciences
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Contents
Chapter – 01 Pediatric Genetics 01 - 16
Chapter – 02 Metabolic Diseases 17 - 30
Chapter – 03 Growth and Development 31 - 48
Chapter – 04 Fluids, Electrolytes & Nutrition 49 - 68
Chapter – 05 Neonatology 69 - 100
Chapter – 06 Endocrinology 101 - 118
Chapter – 07 Infections 119 - 136
Chapter – 08 Cardiovascular System 137 - 156
Chapter – 09 Respiratory System 157 - 184
Chapter – 10 Central Nervous System 185 - 222
Chapter – 11 Kidney 223 - 244
Chapter – 12 Gastrointestinal System 245 - 270
Chapter – 13 Paediatric Tumors 271 - 286
Chapter – 14 Miscellaneous High-Yield Topics 287 - 294
Chapter – 15 Paediatrics Guidelines 295 - 306
1 Pediatric Genetics
CONCEPTS
Â Concept: 1.1 Inheritance: Mendelian
Â Concept: 1.2 Inheritance: Non Mendelian
Â Concept: 1.3 Important Genetic Disorders
2 | Paediatrics
Concept 1.1: Inheritance: Mendelian
Learning Objective: To understand the Mendelian disorders of inheritance
Time Needed
1st reading 30 mins
2 look
nd
10 mins
Autosomal Dominant:
1. Manifest in Heterozygous state.
2. Each affected individual has
affected parents.
3. Affected individual will bear
on an average both normal
and affected offspring in equal
proportions.
4. Autosomal dominant traits show
variability in clinical expression
and delayed age of onset.
5. Examples:
Myotonic Dystrophy.
Huntington’s chorea.
Osteogenesis Imperfecta.
Von Willebrand disease.
Marfan’s syndrome.
Hereditary spherocytosis.
Neurofibromatosis.
Adult polycystic kidney disease.
Tuberous sclerosis.
Autosomal Recessive:
1. Clinically apparent only in
homozygous state.
2. Parents are clinically normal.
3. H/O Consanguinity.
4. Usually more severe, onset
early.
5. Examples:
Cystic fibrosis.
Alpha-1 AT deficiency.
Wilson’s disease.
Haemochromatosis.
Friedrich’s ataxia.
Gaucher’s disease.
Pediatric Genetics | 3
X-Linked Dominant:
1. Females are affected twice as
often as males.
2. An affected female transmits the
disorders to half her sons and half
her daughters.
3. An affected male transmits the
disorder to all of his daughters and
none of his sons.
4. Clinical picture is more variable
and less severe in heterozygous
affected females than in
hemizygous affected males.
5. Examples:
Familial hypophosphatemic rickets
Urea cycle defect due OTC deficiency
Incontinenti apigmenti
Some varieties of Alport Syndrome Note:- Some conditions which are transmitted
as XLD are lethal in hemizygous males so seen only in females e.g. Rett’s Syndrome
and Aicardi syndrome
X-Linked Recessive:
1. A carrier mother has half of her daughters carriers and half of her sons affected.
2. H/O Similar trait on maternal side, e.g. maternal grandfather, maternal cousins.
3. Manifests in hemizygous males. Heterozygous females normal but may have subtle
biochemical abnormalities.
4. Females may be affected if:
a) She may have Turner syndrome (XO)
b) Testicular feminization syndrome (X,Y sex chromosome)
c) She may have had a mother as carrier and affected father.
d) Manifesting heterozygote
due to random inactivation
of normal XChromosome
(Lyonization)
5. Examples:
Duchenne muscular dystrophy
Hemophilia A and B
G-6 PD deficiency
Fragile – X syndrome
Wiskott Aldrich syndrome
Color blindness
Lesch – Nyhan syndrome
Chronic granulomatous disease
4 | Paediatrics
Concept 1.2: Inheritance: Non-Mendelian
Learning Objective: To understand the Non-Mendelian disorders of inheritance
Time Needed
1st reading 30 mins
2 look
nd
10 mins
Mosaicism:
• When an individual has two different cell lines derived from single zygote.
• Germ line mosaicism affects germ cells in the gonad.
• Germ line mosaicism is associated with increased risk of child being affected
• Somatic mosaicism may affect different tissues to variable extent.
• Somatic mosaicism is not transmitted to next progeny.
• Cytogenetic studies of fibroblast must be performed if mosaicism is suspected because
peripheral lymphocytes may be normal
Deletions:
• It occurs when a portion of chromosome is missing
• It may affect terminal or interstitial portion of chromosome.
• Deletions may be observed in routine chromosomal preparations, but micro deletions
are detected only by prophase chromosome studies or by DNA probes
Examples:
• Cri du chat syndrome ( 5p)
• Williams (7q11) syndrome
• Prader Willi syndrome ( 15q1113)
• Di George’s syndrome (22q11)
Translocations:
• Transfer of chromosomal material between two chromosomes.
• Robertsonian translocation involves two acrocentric chromosomes with subsequent
loss of nonfunctional
• Truncated short arms: (e.g.t(14,21) Down’s syndrome)
• Reciprocal translocations are produced by breaks in nonhomologous chromosomes
with reciprocal exchange of broken segments.
• Carriers of reciprocal translocation are phenotypically normal but have increased
risk of producing chromosomally abnormal offspring.
Inversions:
• Inversions require chromosome to break at two points which is then inverted and
joined into the same chromosome.
• It may paracentric or pericentric
• Carriers of inversions are normal but at increased risk of recurrent abortions and
abnormal offspring.
Ring Chromosomes:
• They are formed by deletion at each end of the chromosome. The sticky ends then
join to form a ring.
• They may result in mental retardation, congenital anomalies in offspring.
Uniparental Disomy:
• When both chromosomes of a pair in a person are derived from one parent.
• This is responsible for producing an affected child when only one parent is a carrier
of Autosomal recessive disorder.
• Examples- SMA, cystic fibrosis, α and β thalassemia, Prader- Willi syndrome, Angelman
syndrome.
Genomic Imprinting:
• Phenotypic expression depends upon parent of origin of certain genes or chromosomal
segments i.e. phenotypic
• Expression depends whether the abnormal genetic material is inherited from mother
or fathers.
• The difference in the phenotype is probably due to absence of normal chromosome
from other parent
• Examples:
Prader Willi syndrome (15q11-13) both affected genes are of paternal origin
(70%)
Angelman syndrome ( 15q11-13) both affected genes are of maternal origin (70%)
Pseudohypoparathyroid Ib
Wang syndrome
Temple syndrome
Transient neonatal DM
Beckwith Weidman syndrome
Silver russell syndrome
Prader Willi Syndrome

6 | Paediatrics
Molecular Mechanisms Causing Prader Willi and Angelman Syndromes
Prader-Willi Syndrome Angelman Syndrome
15q11-q13 deletion ~70% (paternal) ~70% (maternal)
Uniparental disomy ~30% (maternal) ~5% (paternal)

Concept 1.3: Inheritance: Important Genetic Disorders
Learning Objective: To remember the important genetic syndromes
Time Needed
1st reading 30 mins
2 look
nd
10 mins
Down’s Syndrome (Trisomy 21):

• Commonest chromosomal anomaly 1/7001/1000 live births.
• MC genetic cause of mental retardation (Often asked MCQ)
• Race : no known ethnic predilection
• Sex: Increase male to female ratio
1.15:1 (restricted to classical Trisomy 21).
Mechanism:
1. Standard Trisomy (nondisjunctions)
95% of cases
Extra chromosome is mostly of maternal origin due to meiotic non dysjunction.
Risk increases with increasing maternal age. The risk increases from 1:1400 at
the age of 25 yrs, 1:384 at 35 yrs, 1:112 at 40 yrs and 1:46 at 45 yrs of age.
2. Translocation (Robertsonian) (3-4 % of cases)
14;21 Robertsonian translocation : MC translocation in Down syndrome
15;21 Translocation
21,21 translocation: Rare but 100% risk
3. Mosaic Trisomy 21 (1-2% of cases
Combination of cells with normal and Trisomy 21 karyotype phenotype variable.
Fig. 1.1: Down’s phenotype

8 | Paediatrics
Clinical Features:
• Skull - Brachycephaly, microcephaly, sloping forehead, flat occiput, large fontanels
with delayed closure, absence of frontal and sphenoid sinuses and hypoplasia of
maxillary sinuses.
• Eyes - Up – slanting palpebral fissures, epicanthal folds, brush field spots in iris,
cataract (3%), strabismus ( 44% ).
• Nose - Flat nasal bridge, hypoplastic nasal bone
• Mouth and teeth - Open small mouth with tendency of tongue protrusion, fissures
and furrowed tongue delayed eruption of teeth. Malformed teeth.
• Ears - Small, over folded helix, chronic otitis media hearing loss.
• Neck - Atlantoaxial instability. Adenotonsillar hypertrophy
• Chest - Decreased inter nipple distance
• Congenital heart defects (40-50% of cases) – commonest cause of death in first
2 yrs of life. Endo cardial cushion defects.
• Most common (43%) VSD (32%) ASD (10%) TOF (6%). Isolated PDA
• Abdomen - Umblical hernia, Diastasis recti
• Gastro intestinal (12%) Duodenal atresia, TEF, Omphalocele Hirschprung’s disease,
• Meckel’s diverticulum, imperforate anus.
• Genitourinary - Renal malformation, hypospadias, Micropenis, cryptorchidism.
Fertility - Males always infertile.
• Females - delayed puberty but mostly fertile.
• Endocrine - Hypothyroidism, delayed puberty, diabetes mellitus, obesity.
• Skeletal - Short and broad hands, clinodactyly of fifth finger with a single flexion
crease (20%) Hyper extensible finger joins, increases space between great toe and
second toe (saddle gap), CDH,Kyphosis,short stature.
• Hematologic - Transient leukemoid reaction in neonatal period leukemia (1015 fold
increase ). Increased risk for all leukemia esp. AML type M7 (Megakaryocytic).
Dermatoglyphics :
• Simian crease ( 50% of cases)
• Increased ulnar loops
• Single flexion crease fifth finger
• Distal axial triradius.
Radiology:
• Under developed middle phalanx
• Dysplastic pelvis
• Missing pair of ribs
CNS - Moderate to severe mental retardation IQ range 2085 (avg.50). Hypotonia
improves with age, sleep apnea, articulation defects.
Behaviour and Psyche: Warm, cheerful, gentle some are stubborn. Increased incidence
of ADHD, autism, seizure disorder (Infantile spasms most common)
Recurrence Risk:
Type of chromosomal Frequency Recurrence risk in future pregnancies
abnormality for "at risk" couples
Trisomy 21 95% Low (overall 1%)
For mother <35 y; age related risk × 3.5
For mother ≥35 y; age related risk × 1.7
Unbalanced Robertsonian 3–4% For de novo translocation- low (overall
translocation (2/3rd de now; 1/3rd inherited) 1%); similar to trisomy 21
For familial translocation
a) t(13; 21) / (14; 21) / (15; 21) / (21; 22)
≈ 10 – 15 % for female cariers
≈ 1 – 2.5 % for male cariers
b) t(21; 22)
100% for both male and female carriers
Mosaicism 1–2 % Low (overall 1%); similar to trisomy 21
Screening Test:
• Triple test
• Decreased MSAFP levels
• Decreased UE3 levels sensitivity 60%
• Increased HCG levels
• Quadruple test : Increased inhibin – A levels – Sensitivity 70%
• Pregnancy associated plasma protein A (PAPPA) is decreased.
Trisomy 18 (Edward’s Syndrome):
Fig. 1.2: Edward’s Phenotype

10 | Paediatrics
• Second commonest Autosomal Trisomy ( 1:3500 to 1:7000)
• Associated with increased maternal age
• Mostly due to non dysjunction, rarely translocation.
Clinical Features:
• Polyhydramnios
• IUGR
• Cranium long narrow with prominent occiput
• Ears hypoplastic low set, micrognathia
• Hypertonia
• Narrow sloping palpebral fissure
• Hands are clenched with second and fifth finger overlapping third and fourth.
• Hypoplastic nails.
• Rocker bottom foot
• Anomalies of GI tract most common exomphalos, atresias, malabsorption.
• Renal anomalies Hypoplasia or cystic dysplasia.
• Others CHD, ocular and neutral tube defects.
• Pseudotrisomy 18 Pena – Shokier
Fig.1.3: Patau syndrome phenotype
Trisomy 13 (Patau’s Syndrome):

• Rare (1:6000); Not associated with advanced maternal age
• Marked microcephaly
• Holoprosencephaly
• Hypotelorism
• Cleft palate and lip
• Microphthalmia
• Polydactyly
• Aplasia cutis – scalp
• Renal and cardiac abnormalities (ASD>VSD)
Turner’s Syndrome ( 45X ):
• First disorder known to have chromosomal basis
• Frequency at birth 1:3000 Live born females
• Important cause of first trimester abortions
Clinical features
• Short stature
• Lymphedema of dorsum of hands and
feet (See the picture)
• Short webbed neck

• Widely spaced ripples
• Congenital Heart DieaseIsolated
bicuspid aortic valve without (3040%)
stenosis commonest
• Coarctation of aorta
• Streak gonads
Fig. 1.4: Lymphedema of feet
• Infertility – primary amenorrhoea
• Cubitus valgus increased carrying
angle
• Renal anomalies Horseshoe kidney,
abnormality of collecting system, PUJ
obstruction, Hypertension
• Skeletal abnormalities – shortening
of 4th metacarpal and metatarsal
bones, epiphyseal dysgenesis of
knee and elbow joints, made lung
deformity, scoliosis.
• Higher incidence of Wilm’s tumor,
colonic cancer, gonadoblastoma
• Cytogenetics :
60% 45 X0
15% Mosaic XX/ X0
10% Isochromosome Xq or X p
10% 46 X deletion Fig.1.5: Any variation of the angle that is more than 15°
5% Mosaic Xo \ XY is known as cubitus valgus and less than 5° are called
cubitus varus.
12 | Paediatrics
• Not associated with increased maternal age.
• Usually arises due to mitotic error during early embryogenesis.
• XO/x y is associated with higher risk of gonadoblastoma
• Treatment involves GH therapy, Estrogen therapy
Noonan syndrome:
• Phenotypic features of Turner’s syndrome (short stature, increased carrying angle,
webbed neck etc) but complex genetics, often involving mutations in PTPN11 & RAS/
RAF pathways.
• Normal karyotype
• Both male and female
• Antimongoloid slant of eyes, prominent philtrum, bleeding diathesis
Commonest cardiac defect pulmonary valvular stenosis may often be present
before defect in sexual development appears.
Higher incidence of hematological abnormalities like factor XI,XII def, ALL, CML
Fig.1.6: Klinefelter syndrome

Klinefelter’s Syndrome (47 Xxy):
Most common sex aneuploidy in males.
Arises due to meiotic non dysjunction of Xchromosome during gametogenesis
X chromosome maternal in origin 54% of cases and paternal in 46% of cases
Karyotype : 47 XXY ( 80% of cases )
Others- mosaics or with XXXY, XXXXY
Clinical features:
The diagnosis is usually made during puberty
Behavioral and psychiatric disorders
Should always be considered in boys with mental retardation, psychosocial,
learning, adjustment problems.
Patients tend to be tall, long limbs, feminine bodily habitus. Infertility is the rule.
Testis small, hyalinization of seminiferous tubules, azoospermia.
80% have gynaecomastia, sparse facial hair
Increased incidence of pulmonary disease, varicose veins and cancer of breast.
Gonadotropin levels elevated, testosterone level low, elevated esiriol level, low
inhibin B levels.
14 | Paediatrics
Worksheet
• MCQ OF “PEDIATRIC GENETICS” FROM DQB
• EXTRA POINTS FROM DQB

Active recall
1. Important tables (Active recall)
Examples of
• Autosomal dominant
• Autosomal recessive
• X linked recessive
• X linked dominant
16 | Paediatrics
• Turner’s vs Noonan syndrome
Turner Noonan
• Prader Willi syndrome vs Angelman syndrome

Prader Willi Angelman
2 Metabolic Diseases
CONCEPTS
Â Concept 2.1: Amino Acid Disorders
Â Concept 2.2: Carbohydrate Disorders
Â Concept 2.3: Lipid Storage Disorders
Â Concept 2.4: M
ucopolysaccharidosis &
Abetalipoproteinemia
18 | Paediatrics
Concept 2.1: Amino Acid Disorders
Learning Objective: To understand the basics of amino acid disorders in children
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
I. Defects in Amino Acid Metabolism

Inborn errors of Metabolism Urine odour
Glutaric acidemia, Isovaleric academia Sweaty feet
Hawkinsinuria Swimming pool
MSUD Maple syrup
Methionine Malabsorption Cabbage
Multiple carboxylase deficiency Tomcat urine
PKU Mousy or musty
Trimethylaminuria Rotting fish
Tyrosinemia Rancid, fishy or cabbage like
1. Phenyl Ketonuria (PKU):

Deficiency of phenylalanine hydroxylase
C/F:
• Normal at birth.
• Gradual onset of mental retardation.
• Occasionally vomiting, movement disorder.
• Blonder, fair skin, blue eyes.
• Seborrheic or eczematoid skin rash.
• Hypertonic, DTR’s +++.
• Microcephaly, seizures.
Diagnosis:
GUTHRIE’s TEST ( 48 - 72 hrs )
Criteria :
1) ↑ Plasma Phenylalanine ( > 20 mg/dl ).
2) Normal Plasma tyrosine.
3) ↑ Urinary phenylpyruvic & O - hydroxy phenylacetic acid.
4) Normal tetrahydrobiopterin.
Treatment
• Dietary phenyalanine restriction.
• Adequate Tyrosine.
Metabolic Diseases | 19
2. Tyrosinemia Type I (Tyrosinosis, Hepatorenal tyrosinemia):
Neonatal / Acute form:
• Symptomatic within first 6 months of life
• Hepatomegaly, jaundice, bleeding tendencies
• Death by second year
Chronic form:
• Manifests after 1 year
• Cirrhosis
• Fanconi syndrome, Vitamin D resistant rickets
• Polyneuropathy
• Death by 10 years due to liver failure / hepatoma
Diagnosis:
Blood:
• Normocytic anemia
• ↑ S. Bilirubin
• ↑ SGOT, SGPT
• ↑αFP (cord blood )
• Generalised aminoaciduria
Liver biopsy : CAH with non specific cirrhosis
Prenatal Diagnosis:
• Amino centesis
• Chronic villous biopsy
3. Tyrosinemia Type II (Oculo cutaneous Tyrosinemia):

• Planter and palmer punctate hyperkeratosis
• Herpetiform corneal ulcer
4. Transient Tyrosinemia of Newborn:

• Premature, with high protein diet
• Spontaneous resolution after 1 month
Treatment
1) Dietary protein restriction 2) Vitamin C
5. Classic Homocystinuria ( Homocystinuria Type I ):

• AR
• Deficiency of cystathionine synthetase ( Chromosome 21 )
C/F:
• Normal at birth
• Diagnosed at 3 yrs - ectopia lentis, severe myopia, iridodonesis
• Progressive MR (normal intelligence in 1/3 )
• Psychiatric disorder, convulsion
• Fair, blue eyes, molar flush, high arch palate, genu valgum, per cavus
• Thromboembolic episodes
20 | Paediatrics
Diagnosis:
• ↑ Methionine and Homocystine in body fluids
• Enzyme assay in liver biopsy specimen or phyto haemagglutinin stimulated
lymphocytes
Treatment:
• High dose of Vitamin B6 ( 200 - 1000 mg / 24 hrs).
• Reduction of Methionine intake and cystine supplementation.
• Betaine therapy.
6. Maple Syrup Urine Disease (MSUD):

• Deficiency of branched chain α keto acid dehydrogenase
C/F:
• (1st wk) Poor feeding, vomiting, lethargy, coma
• Hypertonia alternating with flaccidity
• Hypoglycemia
• Convulsion
Diagnosis:
• Urinary odour.
• ↑ plasma & urinary leucine, isoleucine valine, ↓ alanine.
• Urine FeCl3 - green gray color of urine
Treatment:
1) Hydration 2) Peritoneal dialysis 3) Formula diet
7. Hyperammonemia Syndrome
i) Urea cycle disorders
a) Carbamyl phosphate synthetase deficiency
b) Omithine tranocarbamylase deficiency ( X - linked )
c) Argino succinate synthetase deficiency ( Citrullinemia )
d) Argino succinate lyase deficiency
e) NAG synthetase deficiency
ii) Organic acidemias : propionic, methyl malonic and sometimes isovaleric acidemias
iii) Severe perinatal asphyxia
iv) Total parenteral nutrition ( excess protein administration )
v) Liver failure
vi) Transient hyperammonemia of newborn
C/F: Feeding difficulty, Tachypnea, Hypotonia, Convulsion, Coma
Diagnosis: Hyperammonemia, respiratory alkalosis
↑ citrulline
Prompt treatment of hyperammonemia - recovery without sequlae
vii) Treatment
1. Hydration
2. P eritoneal dialysis / hemodialysis / exchange transfusion
3. Sodium benzoate / L. Arginine
4. Iv antibiotics / ventilation
Concept 2.2: Carbohydrate Disorders
Learning Objective: To understand the basics of carbohydrate disorders in children
Time Needed
1st reading 20 mins
2 reading
nd
10 mins
II. Defects in Carbohydrate Metabolism:

1. Galactosemia- Deficiency of Galactokinase / Galactose - 1 - Phosphate uridyl
transferase
C/F:
• Jaundice ( Unconj. ↑ Conj. ).
• Hepatomegaly, Coagulopathy.
• Lethargy.
• Weight loss, feeding intolerance.
• Cataracts.
• Hypoglycemia.
• Renal Fanconi syndrome.
Diagnosis:
• Urine positive for reducing substances.
• Beutler test.
• Abnormal LFT.
Treatment : Lactose free diet
2. Hereditary Fructose Intolerance
• AR.
• Deficiency of Fructose - 1,6. Biphosphate Aldolase ( Aldolase B ).
C/F:
• Vomiting, abdominal pain.
• Hypoglycemia.
• Convulsion.
• Coma.
• Hepatomegaly & hepatic failure.
• Jaundice.
• Coagulopathy.
• Renal failure.
Diagnosis:
• Hypoglycemia
• ↑ Hepatic Fr - 1 - P Aldolase activity
Treatment: Dietary
22 | Paediatrics
3. Glycogen storage disorders ( AR )
Type , Enzyme affected Clinical S/S Diagnosis
GSD I (VON GIERKE’S) Glucose - * Doll’s face * No rise in blood glucose after SC.
6 – phosphatase Epinephrine or iv glucagon
* Enlarged liver and kidneys * Normal urinary catecholamines
* Stunted growth
* No MR
* Hypoglycemia, lactic acidosis,
hyperlipidemia
GSD II (POMPE’S) Lysosomal acid * Normal at birth * Normal blood glucose response to
α - glucosidase glucagon
* Hypotonia, Cardiomegaly, * Normal urinary catecholamines
Hepatomegaly
* No MR * Prenatal diagnosis : Abnormal ly-
sosomes in uncultured amniotic fluid
cells
* Macroglossia
GSD III ( CORI’S ) Debrancher * Moderate hypotonia * Normal glucose response to gluca-
Enzymes gon after meal but not after fasting
* Hepatomegaly * Prenatal diagnosis : Enzyme assay
of cultured amniotic fluid cells
* No MR
* No hypoglycemia,
hyperlipidemia, acidosis
GSD IV (ANDERSEN) Brancher * Hepatosplenomegaly Prenatal diagnosis :

Enzyme
* Ascites
* Cirrhosis
* No MR
GSD V (MC ARDLE’S) Muscle * Temporary weakness and cramps Prenatal diagnosis not feasible
phosphorylase (Skeletal) after exercise
* No rise in blood lactase
* No MR
GSD VI ( Liver phosphoxylase ) * Marked hepatomegaly with no No rise in blood glucose after
splenomegaly Epinephrine or iv glucagon
* No hypoglycemia, hyperlipidemia
* No MR
GSD VII ( TARUI ) Phosphofruc- * Temporary weakness & cramps
tokinase after exercise
* No rise in blood lactate
* No MR
Concept 2.3: Lipid Storage Disorders
Learning Objective: To understand the basics of lipid storage disorders in children
Time Needed
1st reading 20 mins
2 reading
nd
10 mins
III. Lipid Storage Disorders (AR):

1. GM1 Gangliosidosis Deficiency of Lysosomal β. Galactosidase
C/F:
• Hepatosplenomegaly, peripheral edema, skin rash.
• MR.
• Cherry red spot in macula.
• Coarse facies and macroglossia.
• Seizures.
• Death by 3 - 4 yrs of age.
Diagnosis:
• X - ray Dystosis multiplex (anterior beaking of vertebrae).
• CT / MRI : ventricular dialation and generalised brain atrophy.
• BMA / Liver Biopsy.
• Urinary analysis for Keratan sulfate.
• Enzyme assay in WBC / cultured skin fibroblasts.
2. TAY - SACHS DISEASE (GM2 GANGLIOSIDOSIS):
• Deficiency of βHexosaminidase A.
Fig. 2.1
24 | Paediatrics
C/F: 5 m.
• Decreased eye contact and focussing: hyperacusis.
• Hypotonia.
• Frog like position.
• Macrocrania without hydrocephalus.
• Seizures.
• Death by 4yrs.
3. Niemann Pick Disease:
• Deficiency of Sphingomyelinase
C/F: 3 - 4 m.
• Feeding difiiculties.
• FTT.
• Hepatosplenomegaly.
• Protruberant abdomen.
• Hypotonia.
• Blindness, deafness, hyperacosis.
Types: 3 types are seen:
Diagnosis : BMA.
Treatment: Mainly supportive in all types. No definite cure exists.
4. Gaucher’s Disease
• Deficiency of β - glucosidase.
C/F:
• Splenomegaly.
• Hepatomegaly ± (Rare).
Types of Gaucher disease
Diagnosis:
• CBC.
• X - ray of Knee : Erlenmeyer flask shape of long bones.
Treatment: Enzyme replacement: Imiglucerase (Cerezyme)
26 | Paediatrics
Concept 2.4: Mucopolysaccharidosis & Abetalipoproteinemia
Learning Objective: To understand the basics of MPS in children
Time Needed
1st reading 15 mins
2 reading
nd
5 mins
IV. Mucopolysaccharidosis:
• Incomplete degradation and storage of acid mucopolysaccharides (glyco
saminoglycans).
• All are AR except Hunter.
Hurler’s Syndrome (Gargolism):

• Deficiency of α. L – Iduronidase.
Fig. 2.2
C/F:
• Normal at birth.
• Developmental delay.
• Hepatosplenomegaly, Kyphosis.
• Coarse facies.
• Clouding of cornea.
• Umblical & inguinal hernia.
• MR.
• Stiff, immobile joints.
• Death in teens.
Diagnosis:
• X - ray : dysostosis multiplex.
• Liver Bx.
• Urinary dermatan & keratan sulfate.
V. Abeta Lipoproteinemia (deficiency of apo - B):

• AR.
• Steatorrhea & diarrhea.
• Retinitis pigmentosa.
• Cerebellar ataxia.
• Acanthocytosis.
Treatment:
• Large doses of vitamin E .
• MCT Oil.
• Vitamin A & K.
• Restrict dietary long chain fatty acid.
Approach to inborn errors of metabolism (many mcqs asked each year):

28 | Paediatrics
Fig. 2.3
Worksheet
• MCQ OF “METABOLIC DISORDERS” FROM DQB

30 | Paediatrics
Important tables (Active recall)
Enzyme Deficient in
Amino Acid Disorder Enzyme Deficiency Treatment
Carbohydrate Disorder Enzyme Deficiency Treatment
Lipid Storage Disorder Enzyme Deficiency Treatment

3 Growth & Development
CONCEPTS
Â Concept: 3.1 Growth
Â Concept: 3.2 Development
Â Concept: 3.3 Ossification & Dentition
Â Concept: 3.4 Abnormalities of Growth
Â Concept: 3.5 Vegetative & Childhood behavioral
disorders
32 | Paediatrics
Concept 3.1 : Growth
Learning Objective: To understand the basics of growth in children
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
Growth: A net increase in the size or mass of tissues

Development: Maturation of functions.
Recent one-liners from DNB exams

• The Infancy-childhood-puberty (ICP) model of postnatal growth was given by Karlberg.
• 90% brain growth occurs in first 2
• years of age.
• Thyroxine secreted by human fetus
• from the 12th week of gestation.
• Thyroxine does not affect the liver growth of the fetus in utero and its deficiency significantly
retards the skeletal maturation of the fetus.
• Fetal or maternal GH is not essential for fetal growth in utero.
• IUGR is defined as Birth weight less than 10th centile for gestation
Anthropometry:
Weight falls by 10% in first wk of life, regains birth wt. by 10th day of life. And then gains
by 20-30 g / day during 1st month of life.
Formulas for expected weight:
3 - 12 m - (age + 9) / 2
1 - 6 yr - (age x 2) + 8
7 - 12 yr - (7x age - 5) / 2
One-liners from recent exams:

• Weight becomes double of birth weight at 5 months of age.
• Weight becomes triple of birth weight at 1 year of age.
• Weight becomes four times birth weight at 2 years of age.
Height:
At birth - 50 cm
1st 3 months + 10 cm = 60
4 - 6 m + 7 cm
7 - 9 m + 5 cm
10 - 12 m + 3 cm
Growth & Development | 33
Average Height at 4 yrs of age= 100 cm Thereafter, gain of height is approx. 6 cm/ year
till 12 years of age.
Head circumference:
• 35 cm at birth.
• 1st 3 month- increase by 6 cm.
• 4 - 6 m - 3 cm.
• 7 - 9 m - 2 cm.
• 10th month - 1 cm.
A child reaches approx. Adult head circumference by 24 months.
• Controversial one-liner MCQ point.
• HC>CC by 3 cm at birth.
• HC=CC between at 9 months of age.
CC>HC beyond 9 months to 12 months of age.
Laws of growth:
a. Growth follows sigma shaped curve.
b. Fetus grows fast in the first half of gestation.
c. Post natal growth period.
1st Phase of acceleration – during first few months of birth.
2nd Phase of acceleration – during puberty.
d. order of growth in human beings is cephalo-caudal & distal to proximal.
e. Brain growth – rapid during.
a. Later months of fetal life.
b. Early months of post natal life.
c. At birth – head size 65 – 70% of adult size.
d. Lymphoid growth – rapid during mid childhood.
34 | Paediatrics
Concept 3.2 : Development
Learning Objective: To understand the basics of developmental milestones in children
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
Important Developmental Milestones in The First 5 Yrs of Life:

Neonatal Period (Ist 4 week):
Prone : Lies in flexed attitude ; turns head from side to side ; head sags on ventral
suspension
Supine : Generally flexed and a little stiff
Visual : May fixate face or light in line of vision ; “doll’s eye” movement of eyes on
turning of the body
Reflex : Moro response active ; stepping and placing reflexes ; grasp reflex active
Social : Visual preference for human face
At 4 weeks :
Prone : Legs more extended ; holds chin up ; turns head ; head lifted momentarily to
plane of body on ventral suspension
Supine : Tonic neck posture predominates
; supple and relaxed ; head lags on pull to sitting position
Visual : Watches person ; follows moving object
Social : Body movements in cadence with voice of other in social contact ; beginning
to smile
At 8 weeks :
Prone : Raises head slightly farther; head sustained in plane of body on ventral
suspension
Supine : Tonic neck posture predominates;
head lags on pull to sitting position
Visual : Follows moving object 180 degrees
Social : Smiles on social contact ; listens to voice and coos
At 12 weeks :
Prone : Lifts head and chest, arms extended; head above plane of body on ventral
suspension
Supine: Tonic neck posture predominates; reaches toward and misses objects ; waves at
toy
Sitting: Head lag partially compensated on pull to sitting position ; early head control
with bobbing motion; back rounded
Reflex: Typical Moro response has not persisted; makes defensive movements or
selective withdrawal Reactions
Social: Sustained social contact ; listens to music; says – aah, ngah
At 16 weeks :
Prone: Lifts head and chest, head in approximately vertical axis ; legs extended
Supine: Symmetric posture predominates, hands in midline; reaches and grasps objects
and brings them to mouth
Sitting: No head lag on pull to sitting position; head steady, tipped forward; enjoys
sitting with full truncal Support
Standing: When held erect , pushes with feet
Adaptive: Sees pellet, but makes no move to it
Social: Laughs out loud; may show displeasure if social contact is broken; excited at
sight of food
At 28 weeks:
Prone: Rolls over ; pivots; crawls or creep crawls (knobloch)
Supine: Lifts head; rolls over; squirming movements
Sitting: Sits briefly, with support of pelvis; leans forward on hands, back rounded
Standing: May support most of weight; bounces actively
Adaptive: Reaches out for and grasps large objects; transfers objects from hand to
hand; grasp uses radial palm; rakes at pellet
Language: Polysyllabic vowel sound formed
Social: Prefers mother; babbles; enjoys mirror; responds to changes in emotional
content of social Contact
At 40 weeks:
Sitting: Sits up alone and indefinitely without support back straight
Standing: Pulls to standing position; “Cruises” or walks holding on to furniture Motor:
Creeps or crawls
Adaptive: Grasps object with thumb and forefinger; pokes at things with forefinger;
picks up pellet with assisted pincer movement; uncovers hidden toy; attempts to retrieve
dropped object; releases object grasped by other person
Language: Repetitive consonant sounds
(mama, dada)
Social: Responds to sound of name; plays peek-a-boo or pat-a-cake; wave bye-bye
At 52 weeks (1 year):
Motor: Walks with one hand held (48 weeks); rises independently, takes several steps
Adaptive: Picks up pellet with unassisted pincer movement of forefinger and thumb;
releases object to other person on request or gesture
Language: A few words besides “mama” , “dada”
Social: Plays simple ball game; makes postural adjustment to dressing
15 months:
Motor : Walks alone; crawls up stairs
Adaptive : Makes tower of 3 cubes; makes a line with crayon; inserts pellet in bottle
Language: Jargon; follows simple commands; may name a familiar object (ball)
Social : Indicates some desires or needs by pointing; hugs parents
36 | Paediatrics
18 months:
Motor : Runs stiffly; sits on small chair; walks up stairs with one hand held; explores
drawers and waste baskets
Adaptive : Makes a tower of 4 cubes; imitates scribbling; imitates vertical stroke;
dumps pellet from bottle
Language : 10 words (average); names pictures; identities one or more parts of body
Social : Feeds self; seeks help when in trouble; may complain when wet or soiled; kisses
parent with pucker
24 months:
Motor : Runs well; walks up and down stairs; one step at a time; opens doors; climbs
on furniture; jumps
Adaptive: Tower of 7 cubes (6 at 21 months); circular scribbling; imitates
Language: Puts 3 words together
(subject, verb, object)
Social: Handles spoon well; often tells immediate experiences; helps to undress; listens
to stories with pictures
30 months
Motor: Goes up stairs alternating feet
Adaptive: Tower of 9 cubes; makes vertical and horizontal strokes, but generally will
not join them to make a cross; imitates
circular stroke, forming closed figure
Language: Refers to self by pronoun “I”; knows full name
Social : Helps put things away; pretends in play
36 months:
Motor : Rides tricycle; stands momentarily on one foot
Adaptive : Tower of 10 cubes; imitates construction of “bridge: of 3 cubes; copies a
circle; imitates a cross
Language: Knows age and sex; counts 3 objects correctly, repeats 3 numbers or a
sentence of 6 syllables
Social: Plays simple games (in “parallel” with other children); helps in dressing (unbuttons
clothing and puts on shoes); washes hands
48 months:
Motor: Hops on one foot; throws ball overhand; uses scissors to cut out pictures; climbs
well
Adaptive: Copies bridge from model; imitates construction of “gate” of 5 cubes; copies
cross and square; draws a man with 2 to 4 parts besides head; names longer of 2 lines
Language: Counts 4 pennies accurately; tells a story
Social: Play with several children with beginning of social interaction and role- playing;
goes to toilet alone
60 months:
Motor: Skips
Adaptive : Draws triangle copy; names heavier of 2 weights
Language : Names 4 colors; repeats sentences of 10 syllables; count 10 pennies
correctly
Social : Dresses and undresses; asks questions about meaning of words; domestic
role-playing
Latest update on a very controversial milestone:
Screening Scheme for Developmental Delay: Upper Range

Age (Mo) Gross Motor Fine Motor Social Skills Language
3 Support weight on Opens hands Smiles appropriately Coos, laughs
foreams spontaneously
6 Sits momentarily Transfers objects Shows likes and Babbles
dislikes
9 Pulls to stand Pincer grasp Plays pat-a-cake, Imitates sounds
peek-a-boo
12 Walks with 1 hand Releases an object on Comes when called 1-2 meaningful
held command words
18 Walks upstairs with Feeds self from a Mimics actions of At least 6 words
assistance spoon others
24 Runs Builds a tower of 6 Plays with others 2-to 3-word
blocks sentences
Neonatal Reflexes:
Sucking reflex 30 weeks
Swallowing reflex 32 weeks
Sucking & swallowing coordination 34 weeks
Moro’s Reflex:
• Abduction and extension of arms with hands open followed by adduction of arms.
• Appears by 28 - 30 weeks, completes at 35 weeks.
• Disappears by 3 months MCQ.
• Abnormal if persists beyond 6 months.
MCQ.
Abduction Component Absent in Preterm
Asymmetric Moro’s Reflex : RECENT
AIIMS MCQ
• Erb’s palsy.
• # Clavicle.
• # Humerus.
• Hemiplegia.
38 | Paediatrics
Absent Moro’s:
Exaggerated Moro’s in Kernicterus
• Severe hypertonia / hypotonia.
• Sedation.
• Brain damage.
Crossed Extension: Appears at 32 weeks,
Tonic neck reflex: Prominent between 2 – 3 months of age -Persistence beyond
6 – 9 months indicates spastic CP
Grasp Reflex:
Appears by 30 weeks ; strong after 36 weeks; disappears by 2 -3 months of age, replaced
by voluntary grasp at 4 months of age Persistence - Spastic form of CP Kernicterus
Timing of Selected Primitive Reflexes

REFLEX ONSET FULLY DEVELOPED DURATION
Palmar grasp 28 wk gestation 32 wk gestation 2-3 mo postmatal
Rooting 32 wk gestation 36 wk gestation Less prominent after 1
mo postmatal
Moro 28-32 wk gestation 37 wk gestation 5-6 mo postmatal
Tonic neck 35 wk gestation 1 mo postmatal 6-7 mo postmatal
Parachute 7-8 mo postmatal 10-11 mo postmatal Remains throughout life
Concept 3.3 : Ossification & Dentition
Learning Objective: To understand the basics of ossification & dentition in children
Time Needed
1st reading 15 mins
2 reading
nd
05 mins
Time of appearance in X-ray, of

centers of ossification
Bones to be evaluated for skeletal age:
• New born - Foot & Ankle.
• Infant (3 – 9 months) – Shoulder.
• 1 – 13 years - hands & wrists.
• 12 – 14 years - elbow & hip.
Usually present at birth - Femur, distal, tibia, proximal
4m ± 2 m - Femur, head
Chronology of Human Denition:
Primary teeth Age of Eruption Age of shedding
Central incisors 6m 7 yr
Lateral incisors 9m 8 yr
Canines (cuspids) 18 m 10 yr
First molar 14 m 11 yr
Second molar 24 m 12 yr
Secondary teeth Age of Eruption
Central incisors 7 yr
Lateral incisors 8 yr
Canines 11 yr
40 | Paediatrics
Concept 3.4 : Abnormalities of Growth
Learning Objective : To understand the basics of abnormalities of growth in children
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
Adolescence:
• First visible sign of puberty in girls is development of breast buds - as early as 8 yrs
(Girls – Thelarche, Pubarche, Menarche).
• Boys (Testis enlargement, Pubic hair, Penis).
• First sign in boys - testicular enlargement. Note: Usually Growth spurt comes first
before onset of pubertal signs, although peak growth spurt may be delayed till
pubic hair appearance.
• Some degree of breast hypertophy occurs in 40 - 65 % of pubertal boys - estrogenic
stimulation.
• Goitre during Puberty – Euthyroid & TSH normal.
Assessment of Growth:
• Done using standard growth chart based on data collected from 1963 - 75 by National
• Center for Health Statistics (NCHS).
• Top most curve is 95th percentile & lowermost 5th percentile.
• 50th percentile is considered to be median and is also termed as standard value.
• (Length - Infantometer, Stature - Stadiometer, Head circumference - Avoid cloth
tapes).
Short stature Height less than third percentile of reference range for age & sex or 2 SDs
below population mean
Dwarfism Height below 3 SDs from mean
Growth Velocity:
1st yr - 25 cm / yr
2nd yr - 10 cm / yr
3rd - 4th yr - 7 cm / yr
5th - 6th yr - 6 cm / yr
7th yr - puberty - 5 cm / yr
In females peak growth velocity - 9 cm / yr (in SMR stage 3)
In males peak growth velocity - 10.3 cm /yr (in SMR stage 4)
Gain of 10 - 30 cm occurs during pubertal spurt
Growth less than 4 cm / yr - Evaluate
Causes of Short Stature:
1. Constitutional growth delay CA > HA =
BA (most common cause)
2. Familial short stature BA = chronological
age > HA
3. Pathological CA > HA = BA
a) Nutritional (42%)- Hypocaloric, CIBD, Malabsorption
b) Endocrine(15%)- Hypothyroidism (CA > HA >BA), Growth hormone deficiency (CA
>> HA < BA), Hypopituitarism, excess cortisol
c) Chromosomal - Turner’s Syndrome (Bone age > Height age)
d) Metabolic - Renal, Chronic, Chest disease, Cardiac defects
e) Bone developmental - Achondroplasia, Chondrodystrophies.
Short Limb Short Stature:
• Achondroplasia.
• Rickets.
• Osteogenesis imperfection.
Short Trunk Short Stature:
• Mucopolysacchariodosis.
• Caries spur.
• Hemivertebra.
Body Proportion:
Lower segment - upper margin of symphysis
pubis to feet
US = Height - LS
U/L Ratio Age
Birth 1.7
3 yrs 1.3
7 yrs 1.0
Higher U/L ratio - Short limb dwarfism / rickets
Arm span:
• Distance between tips of middle fingers of outstretched arms:
<5yrs AS < Ht
10-12 yrs AS = Ht
>12 yrs AS > Ht (2 cm) Large AS:
• klinefelter syndrome.
• Marfan’s syndrome.
• Arachnodactyly.
42 | Paediatrics
Skeletal Maturation:
Most commonly used standard are of Gruelich and Pyle (G.P.) - X-ray left hand and wrist.
Knee film for younger children
Dental Development:
Delayed eruption is usually considered when there are no teeth by approximately 13m of
age (mean + 3 S.D.)
Causes of delayed eruption:
• Idiopathic (most common).
• Rickets.
• Hypothyroid.
• Skeletaldysplasias.
• Hypoparathyroid.
• Familial.
Concept 3.5: Vegetative and Childhood behavioral disorders
Learning Objective: To understand the basics of vegetative and Childhood behavioral
disorders in children
Time Needed
1 reading
st
20 mins
2 reading
nd
10 mins
Vegetative Disorders:
1. Rumination Disorder:
• Weight loss or failure to gain at the expected level because of repeated regurgitation
of food without nausea / associated gastrointestinal illness.
• M > F.
• Onset 3 m / 4 m of age.
• 25% fatal.
• Two types.
• Psychogenic - Normal development with disturbed parent - child relation- ship.
• Self Stimulating - MR.
Treatment:
• Behavoiural therapy (positive & negative reinforcement).
• Parent counselling.
2. PICA:
• Repeated or chronic ingestion of non - nutrient substances including plaster, charcoal,
clay, wool, ashes, paint & earth.
• Onset 1 - 2 yrs.
• Predisposing : MR, lack of parental nurturing.
• If pica after 2 yrs - evaluate.
• Increased risk of lead poisoning & parasite infection.
• Iron supplementation may be helpful.
3. Enuresis:
Involuntary discharge of urine after the age at which bladder control should have been
established after 5 years
2 Types
• Primary (75%).
• Secondary - after continence for atleast 1 yr.
Treatment option
• Alarm therapy first
• < 5 yrs - Supervised DDAVP (Desmopressin acetate).
• 5 - 7 yrs - DDAVP.
44 | Paediatrics
• Alarm treatment.
• > 7 yrs - Imipramine / Oxybutynin. Latest update: Oral desmopressin preferred
over nasal desmopressin
RECENT MCQ ONE_LINERS.
Most effective treatment initially: Bed alarm & positive reinforcement.
• Drug therapy is 2nd line management
• Desmopressin is current D.O.C.
• Oral route is now preferred for desmopressin instead of nasal spray. (Ref. Latest
guidelines).
4. Encopresis:
• Passage of feces into inappropriate places at any age after bowel control should have
been established
• Causes.
• Primary.
• Secondary - overflow incontinence (66%).
• Chronic constipation.
• Fecal impaction.
• Treatment.
• Psychotherapy.
• Mineral oil and high fiber diet.
Attention Deficit Hyperactivity Disorder (ADHD):
• Poor ability to attend to a task.
• Motoric over activity.
• Impulsivity. Etiology: Unknown Epidemology:
• 9% boys.
• 3.3% girls.
• Age of onset - < 4 yrs.
Treatment
1) A regular time table for child
2) Hear Do’s & Don’t
3) Psychiatric evaluation
4) Drugs * Methyl phenidate(most commonly used)
• Dextro amphetamine.
• Atomoxetine(Preferred if child has heart disease or Co-existing tics disorder).
• Clonidine.
• Tricyclic antidepressants.
Breath Holding Spell:
Age: 6 months – 5 yrs Types:
• Cyanotic spell.
• Pallid spell.
Treatment :
1) Strong physical stimulus at the onset of spell
2) Iron supplementation
• RECENT MCQ ONE-LINERS.
• Pica – normal upto 2yrs of Age.
• Thumb sucking normal upto 4yrs of age.
• Speech becomes intelligibly by 4yrs.
46 | Paediatrics
Worksheet
• MCQ OF “GROWTH & DEVELOPMENT” FROM DQB

Important tables (Active recall)
Important Neonatal Reflexes
Appearance Disappearance
Short Stature
Constitutional Familial
Milestones
1 year
48 | Paediatrics
2 years
3 years
4 years
5 years
4 Fluids, Electrolytes
& Nutrition
CONCEPTS
Â Concept: 4.1 Malnutrition
Â Concept: 4.2 Vitamins & Minerals
Â Concept: 4.3 Fluids, Acid-Base & Electrolyte
abnormalities
50 | Paediatrics
Concept 4.1: Malnutrition
Learning Objective: To understand the basics of nutrition & Malnutrition in children
Time Needed
1st reading 30 mins
2 reading
nd
15 mins
Nutrition:
• Average energy allowance – (k cal / kg)
0-6 months = 108
6-12 months = 98
1-3 years = 102
4-6 years = 90
7-10 years = 70
• Essential amino acids– HILL MAP TTV
Histidine, isoleucine, Leucine, Lysine.
Methionine, Arginine, Phenylalanine, Tryptophan,Threonine & valine.
• (Histidine & arginine are semi – essential).
• Essential fatty acids – PUFA – Linoleic, linolenic, arachidonic acid
• Biological value of protein (B. V.) – Retained / absorbed nitrogen
• Reference protein = whole egg.
• Protein requirement 1-4 months
= 2.2 g / µg / day 4-9 months = 1.6 g / µg / day 3 – 5years = 1.1 g / µg / day
• Milk (Animal milk) is poor source of magnesium, copper, iron & Vitamin C.
• Dental fluorosis seen it drinking water contains > 2 ppm of fluorides
• I2 deficiency - Abortion, still births in pregnant females
Congenital anomalies, cretinism, goitre, Psychomotor defects in new born.
• Zinc-Carbonic anhydrase enzyme
Growth failure, Hypogonadism, Anemia, Hepatosplenomegaly.
Acrodermatitis enteropathica, night blindness, alopecia.
Neural tube defects of the fetus & IUGR – deficiency during pregnancy.
• Copper-Amine oxidase, Ferro oxidase, cytochrome oxidase, super oxide dismutase
:- Menke’s kinky hair syndrome & Wilson’s disease
• SeleniumKeshan disease – cardiomyopathy. Keshin beck disease – endemic
osteoarthritis. Excessive Selenium intake – selenosis -loss of hair & nail.
• Breast feeding - Exclusive breast feeding uptill 6 months of age -Bifidus factor –
protective against E. coli - PABA
• Wheat – deficient in lysine Legumes – deficient in methionine
Fluids, Electrolytes & Nutrition | 51
PEM classification
a. weight for age
Gomez.
IAP.
Jellife’s.
Wellcome.
b. Height for age-Mclaren’s
Water low
c. Weight for height & height for age
-Waterlow
• IAP classification of PEM.
a. grade I – 71-80% II –61-70% III – 51-60% IV –< 50%
WHO Classification:
Moderate Malnutrition Severe Malnutrition
Symmetrical Oedema No Yes, edematous malnutrition
Weight for Height SD SCORE (Z Score) b/w-2 to -3 SD SCORE < -3 Servere stunting
Height for age SD SCORE (Z Score) b/w-2 to -3 SD SCORE < -3 Servere stunting
Marasmus:
• Body weight < 60% of expected.
• 6 months to 2 years.
• Dry & inelastic skin.
• Baggy pants appearance (AIIMS MCQ)
• Alert &irritable buccal pad of fat in preserved till late.
• voracious appetite / old man’s or monkey faces look.
[Emaciation; marked stunting & no edema – Characteristic feature of Marasmus]
Grade:
I-Loss of fat in axilla and groins.
II-I + Loss of fat on abdomen and gluteal region.
III-II + loss of fat on chest + spine. IV-III + loss of buccal pad of fat.
• All organs are reduced in size and weight except brain.
• Hydroxyproline index greatly reduced.
• Urine 17- OH corticosteroids - normal.
52 | Paediatrics
• Kwashiorkor-
P - Psychomotor changes E - Edema
M - Muscle wasting
G - Growth Retardation – 4 essential features of kwashiorkor.
Red haired boy red boy or disposed child / displaced child syndrome.
Age 1-5 years.
Loss of appetite, flag sign.
Flaky paint dermatosis and crazy pavement dermatosis.
Hepatomegaly (fatty infiltration),
moon face.
Avitaminosis, anemia, A : G ratio, reversal, hypo albuminemia & hypokalemia.
Small size heart
• Phenomenon seen during nutritional rehabilitation.
Pseudotumor cerebri.
Nutritional recovery syndrome.
Encephalitis like syndrome, Kahn syndrome.
• Nutritional recovery syndrome.
Apparent worsening with increased liver size, hypertrichosis, gynecomastia,
Parotid swelling, ascites, splenomegaly & eosinophillia.
Due to excessive hormone secreted (Adrenal function) during recovery than to
protein excess
• Marasmic kwashiorkor – F /o kwashiorkor + marasmus with edema
• Pre kwashiorkor – F/o kwashiorkor without edema
• Causes of sudden death in PEM
Hypoglycemia.
Hypothermia.
Dyselectrolytemia.
Diarrhea and dehydration.
CCF.
Infection.
Criteria for failure to respond in PEM:

In patients
Criteria for failure to respond Time after admission
Primary failure to respond (Phase I)
Failure to regain appetite Day 4
Failure to start to loose oedema Day 4
Oedema still present Day 10
Failure to enter phase 2 and gain more than 5g/kg/d Day 10
Secondary failure to respond
Failure to gain more than 5g/kg/d for 3 successive days During phase 2
Note that the day of admission is counted as day 0.

54 | Paediatrics
Concept 4.2 : Vitamins and Minerals
Learning Objective : To understand the basics of vitamins and minerals
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
Water Soluble Vitamins:

Vitamin C (Ascorbic Acid):
Physiological role:
• Synthesis of collagen and intra cellular matrix.
• Antioxidant.
• Maintenance of vascular integrity.
• Steroid synthesis.
• Tyrosine metabolism.
• Absorption of iron.
High conc. In lens and adrenals.
Sources: Citrus fruits and vegetables.
Daily Requirement: 30-50 mg/day
Deficiency:
• Max cases between 6-24 months.
• Irritability, digestive disturbances and loss of appetite earliest features.
• Generalized tenderness especially in leg.
• Pseudoparalysis and frog leg like posture.
• Hemorrhages occur under the periosteum of long bones.
• Gum bleeding, anemia, wound healing delayed
Diagnosis: based on clinical/ radiological features:

Radiological features:
• Mainly seen at knee it.
• Ground glass appearance of medulla.
• Pencil thinning of cortex.
• Ring shaped epiphysis (wimburger sign).
• White line of frankel at metaphysic.
• A zone of rare faction or destruction appears proximal and parallel to the white line.
• Pelkan spur.
• Subperiosteal hemorrhages.
Lab diagnosis:
• Plasma levels vary.
• Fasting blood level > 0.6mg% excludes scurvy.
• Better assessed in buffy coat.
• PT is prolonged.
• Urinary excretion of vit C after a loading dose <80%.
Treatment: 100-300 mg per day for 2-3 wks.
Vitamin B Complex Group:

Thiamine:
• Stored in body mainly as thiamine pyrophosphate (TPP).
• Acts as cofactor for carboxylase enzyme.
• Required for synthesis of acetyl choline, carbohydrate and protein metabolism.
• Deficiency results in impaired nerve conduction.
Sources: Cereals, yeast, pulses, oil seeds, meat, fish, greet vegetables – poor sources.
RDA : 0.4 mg/1000 K cal.
C/F of Deficiency : (Beri Beri) seen in:
• Who use polished rice.
• Alcoholics (chronic).
• Chronic peritoneal dialysis/hemodialysis.
• Refeeding after starvation.
• Babies born to thiamine deficient mothers.
Dry Beri Beri – nervous system involved:
• Irritability, fatigue, headache, polyneuritis.
• Calf tenderness, sluggish tendon reflexes.
Wet Beri Beri – CVS involved:
• Palpitation, tachycardia, dyspnea and edema.
• Peripheral vasodilatation – high output failure.
Wernicke – Korsakoff syndrome – Ophthal- moplegia, nystagmus, ataxia, nystagmus,
ataxia and altered sensorium.
Other roles:
• Maple syrup urine disease.
• Subacute necrotizing encephalopathy (Leigh’s disease).
• Thiamine responsive megaloblastic anemia.
Diagnosis:
• Increased blood levels of pyruvic and lactic acid.
• Decreased RBC transketolase.
Treatment:
• 10 mg thiamine daily oral/ parenteral
56 | Paediatrics
Riboflavin (B2):
• Part of flora proteins involved in oxidative metabolism.
• Kreb’s cycle, oxidation of FFA, mitochondrial electron transport chain. Sources: liver,
meat, egg, kidney, greet leafy vegetables.
RDA – 0.6 mg/1000 Kcal.
Deficiency state: Glossitis, cheilosis, nasolabial dysbacea, circumcorneal
vascularisation, keratitis, neuropathy.
Diagnosis: Urinary B2 excretion - < 30 mg in 24 hrs.
Tt: 3-10 mg daily oral/parental.
Niacin:
• Component of NAD/NADP enzymes
• Role in glycolysis/electron transfer/DNA synthesis.
• L-tryptophan can be converted to niacin.
• 60 mg tryptophan → 1 mg of niacin.
• RDA: 6.6 mg/1000 k Cal consumed.
• Sources: liver, groundnut, whole cereals, pulses, meat, milk, egg (high tryptophan
content).
• Deficiency state: seen in maize eaters (because it is deficient in tryptophan and has
high leucine content).
Def: Pellagra (3D’s)
GI – Diarrhoea - loss of appetite, acholhydria, vomiting.
Skin: Dermatitis – pigmented scaly
Cracked skin on parts exposed to sun.
• Neck (casal necklace).
• Hand (pellagrous glove).
• Feet (Pellagrous foot).
t/t : Avoid sun exposure
• Niacin 50 mg IM BD x 3-4 days.
• Followed by 300 mg daily x 2-3 wks.
Pyridoxine (Vit B6):
• Pyridoxal phosphate coenzyme in amino acid metabolism: decarboxylation,
transamination etc.
• Sources – cereals, legumes, meat, fish
• RDA : 0.5-1 mg/day.
• Deficiency: Peripheral neuropathy, MCHC anemia.
non specific symptoms – FTT, irritability, hyperacusis.
Drugs – INH, penicillamine, hydralazine. Diagnosis: ↓ urinary excretion
Tryptophan loading test - ↑ xanthurenic acid excretion
Dependency states: seizures, anemia, homocystinuria.
Pantothenic Acid:
• Present in coenzyme A for fatty acid metabolism.
• Deficiency – burning feet syndrome.
Vitamin D:
Sources: Fish, liver, oils, egg yolk, vegetable oils milk.
RDA – Infants – 200 IU
– Children – 400 IU
Synthesized in skin from 7-dehydro cholesterol under the effect of UV-rays (280-320
nm) in sun light.
Dietary sources: Milk, animal products etc.
• Promotes intestinal Ca and PO4 absorption.
• Bone dissolution and mineralisation.
• Deficiency state – rickets – failure of mineralization of growing bone.
• Osteomalacia – failure of mineralization of mature bone.
• Biochemical changes - ↓ vit D →↓ Ca absorption from gut.
• Secondary hyper parathyroidism in.
mobilization of Ca, PO4 from bone.
↑ excretion of PO4 in urine.
↑ alkaline phosphatase.
Nutritional rickets:
lack of 7 –dehydrocholesterol
sunlight, lack of dietary Skin
vitamin D2 and D3 Ultraviolet light
Cholecalciferol (Vitamin D3)
Liver
Vitamin D3-25 hydroxylase
Calcidiol (25[OH]D3)

Vitamin D-dependent Kidney 25
rickets, type I (OH) D3-1-α-hydroxylase
Calcitriol (1, 25 [OH]2D3)

Vitamin D-dependent rickets,
type II affects receptors and
increases calcitriol
Effects of calcitriol
Intestines Bone
Increased calcium absorption Increased mineralization directly
Increased phosphorus absorption via increased calcium absorption in
intestinal lumen
Decreased magnesium absorption
At high doses: increased osteoclastic
Parathyroid glands
bone
Decreased PTH synthesis
Kidney
Decreased PTH secretion
Autoregulation of calcitriol
production by the kidney
58 | Paediatrics
Etiology:
Type I (Calcium deficiency) with secondary hyper parathyroidism) cause:
a) Deficiency of vitamin D – dietary, lack of sunlight, congenital.
b) alabsorption of vit D.
c) Liver disease.
d) Renal osteodystrophy.
e) Vit D dependent rickets, type I.
Type II (Phosphate deficient) :
a) Familial hypo-phosphatemic rickets
b) Fanconi syndrome – Pri or sec.
c) RTA
d) Phosphate malabsorption
Type II (End organ resistance) :
• Vit D dependent rickets type II.
Type I Type II Type III
(Calcium deficient) (Phosphate deficient) (End organ resistance)
Serum Ca N/↓ N ↓
Serum PO4 N/↓ ↓↑ N
ALP ↑↑ ↑ ↑↑
PTH ↑ N ↑
Clinical Manifestation:
• Craniotabes – earliest manifestation.
• Large ant. Fontanelle – delayed closure.
• Frontal bossing/ parietal prominence.
• Rachitic rosary (D/d scorbutic rosary – painful, pointed).
• Pigeon breast deformity.
• Harrison groove.
• Delayed eruption of teeth.
• Wrist widening.
• Double malleoli.
• Genu varum (younger children).
• Pot belly and visceroptosis.
• Spine and pelvic deformities.
Diagnosis:
• X-ray.
• Serum Ca/PO4/ALP.
• Urinary examination.
• Blood gas if required.
• Vit D levels.
Treatment: Inj. Vit D 6,00,000 U IM stat Repeat after 3 wks if no improvement
radiographically.
Approach to vit D refractory rickets.
Primary familial hypophosphatemic rickets (X-linked dominant):

• Most common non nutritional form of rickets.
• Defect in proximal tubular reabsorption of PO4 and synthesis of 1,25 (OH)2D3 from
25(OH)D3.
• Aminoaciduria, glycosuria, bicarbonaturia – absent.
• Present at early age.
• Teeth have abnormal dentin.
• Treatment – PO4 supplementation (Joulie’ssoln) with 1,25 (OH)2 D3 administration.
Vit D dependent rickets:
Type I
• Autosomal recessive
• Deficiency of renal 1-α hydroxylase.
• Treatment high doses of vit D2 or 1,25(OH)2 D3.
Type II
• End organ resistance to vit D3
• Associated with short stature and alopecia.
H- Pantothenic acid - Burning feet syndrome
deficiency
I- Vit B12 (cobalamine) - Transported by Transcobalamin II
- Stored in body bound to Transcobalamin I Sub
acute combined degeneration of spinal cord
60 | Paediatrics
J- Vitamin C - Pseudo paralysis / frog like position.

- Woody legs.
- Gum bleeds.
- Scorbutic rosary.
K- Vitamin A - Present only in animal tissue.
- Anti infection vitamine.
- Beta carotene-Anti oxidant & scavenger of
free radicals.
- Nyctalopia-early symptom.
XI A - conjunctival xerosis
XI B - Bitot’s spots
X2 - Corneal xerosis
X3A - Corneal ulceraiton
X3B - Keratomalacia
XN - Night blindness
XF - Fundus changes
XS - Corneal scarring
- RDA 400 IV in children 750 IV in adults
Extra edge: Bitot spots:

Concept 4.3: Fluids & Electrolyte abnormalities
Learning Objective: T
o understand the basics of intravenous fluids and electrolyte and
acid base abnormalities in children
Time Needed
1 reading
st
30 mins
2 reading
nd
15 mins
Maintenance Fluid Requirements:

First 10 kg : 100 ml/kg/day Next 10 kg : 50 ml/kg/day
Next 10 kg : 20 ml/kg/day 7days - 3m : 150 ml/kg/day
Composition of Available Fluid (Many Recent MCQs):

iv fluid Dextrose Na K Cl Bicarb Total
mosm/L (meq/L) (meq/L) (meq/L) mosm/L
0.9% DNS - 154 - 154 - 308
5% DNS 277 154 - 154 - 585
0.45% DNS 277 77 - 77 - 431
N/4 Glucose 207 37.5 - 37.5 -
Saline
N/4 Glucose 207 37.5 20 57.5 -
Saline with 15%
KCl (1ml/100ml)
Ringer Lactate - 131 5 111 29
Acid Base Disorders:

Metabolic Acidosis (Anion gap = Na– - (Cl- + HCO3–)
Increased Anion Gap Normal Anion Gap
(Normo chlorenemic Acidosis) (Hyper chlorenemic Acidosis)
Lactic acidosis- Diarrhea
Shock R.T.A.
62 | Paediatrics
Asphyxia Uretero Sigmoidostomy
Cyanide poisoning
Salicylate Parental alimentation
Paraldehyde Rapid ECF expansion
Biguanide
Organic Acidemias
Inborn error of Carb& Pyr. Metabolism
Keto Acids – Diabetes mellitus • Carbonic anhydrase (-)
Starvation
Sulphuric / Phosphosic Acids – Renal failure • Small bowel / biliary fistula
Metabolic alkalosis causes:

Acid Loss Alkali Gain ECF Loss (Cl-> HCO3°)
a. GIT Loss - ↓
• Vomiting • Rapid HCO3- Correction • Cystic Fibrosis

• NG Tube Aspiration • Massive Transfusion (Citrate) • Massive Diuresis
b. Mineralocorticoid Activity
• Cushings Syndrome • Hyperalimentation (Acetate)

• Hyper aldosteronism • Antacids (Excessive)
• Bartter’s Syndrome
• Liquorice / carbenoxolone sodium
Respiratory Acidosis causes:

Respiratory Thoracic cage Neuromuscular
a. Obstructive Flail chest Brain Stem lesion
• Aspiration • Scoliosis
• Croup • Sedatives (opium)
• Foreign body • Pick wickian syndrome
• Epiglottitis
• Asthma
• Bronchiolitis • Polio myelitis
b. Parenchymal
• Pneumonia • GB Syndrome
• Resp. distress syndrome • Myasthenia Gravis
• Interstitial Lung disease • Muscular dystrophy
• Pulmonary edema • Botulism
c. Pleural
• Pleural effusion
• Pneumethorax
Resp. Alkalosis Causes:

Pathological Physiological
Lung disease • Anxiety
• Obstructive / Restrictive • Fever
• Embolus • Screaming
CVS • Iatrogenic
• Cardiac failure • Hysterical
• Liver cell failure • Mechanical Ventilation
CNS Infection
• Trauma, Tumors
• Sepsis
• Hypothyroidism
• Salicylate Poisoning
Approach to identifying acid base imbalance (Table from Nelson 20th ed)
64 | Paediatrics
Dyselectrolytemias:
Hyponatremia (Serum Sodium < 125 meq / L)
Causes:
Circulating volume Urinary sodium
< 20 meq / L > 20 meq / L
I. Decreased • GE. • Adrenal insufficiency

• Ch. Diuretic therapy • Saltwasting nephropathy
• Burns‑ • RTA
• Pancreatitis • Obstructive uropathy
• Diuretic phase of ATN
II. Normal or Increased CHF • Cerebral salt wasting

Cirrhosis Liver • Renal failure
Nephrotic syndrome • SIADH
• Hypothyroidism
• Compulsive Water drinking
• Excessive fluid therapy
• SIADH (Syndrome of Inappropriate Secretion of Anti Diuretic Hormone)

Characterized by • Hyponatremia and Low plasma Osmolality.
• Oliguria.
• Modest expansion of body fluid volume.
• Mild urinary sodium wasting (Urine that is not maximally
detect).
• B. P. and KFT are normal.
Important Causes of SIADH:

I. CNS Disorders -
▫ TBM / Pyogenic Meningitis
▫ Br. Abscess / Tumor
▫ Head Injury / Sub Arachnoid hemorrhage
▫ G. B. Syndrome
▫ Status epilepticus
II. Pulmonary Disorders-
▫ T. B. / Pneumonia
▫ Positive pressure ventilation
▫ Chronic Obstructive disease
III. Drugs -
▫ Barbiturates
▫ Carbamazepine
▫ Vincristine
▫ Chlorpropamide
▫ Cyclophosphamide
▫ Indomethacin
IV. Miscellaneous -
▫ H K disease
▫ Malignancies
Hypernatremia: serum Na+ > 150 meq/L
Causes
1. Inadequate free water intake
2. Increased Sodium intake
Accidental salt administration
ORS Infant feeds
3. Excessive free water loss -
Extra Renal – Burns, sweating, Tachypnea
Renal
▫ Central D.I.
f Craniopharyngioma
f Granulomatous disease of Hypothalamus
f Post op
▫ Nephrogemi D.I.
Hypokalemia (Plasma K+<3.5 meq / L):

Cause:
I. Shift from Extracellular to Intracellular compartment:
▫ Insulin, Beta adrenal Agonists, Alkalosis (Salbutamol).
▫ Periodic Paralysis (Hyperthyroidism, familial).
II. Decreased intake:
▫ Protein energy male nutrition.
III. Gastro intestinal & skin losses:
▫ GE, villous adenoma, congenital chlori diarrhea.
▫ Excessive sweating, severe burns.
IV. Renal Losses:
▫ Dimefic induced.
▫ Vomiting / Nasogastric suction.
66 | Paediatrics
▫ Acidosis – Renal tubular, diabetic.
▫ Hyper aldosteronism – Primary, secondary.
▫ Bartter & Gitelmann syndrome.
▫ Liddle syndrome .
▫ Magnesium deficiency.
▫ Hyper kalemia – Ser potassium > 5.5 meq/L.
Causes of Hyperkalemia:
I. Renal:
▫ Renal failure.
▫ Type IV RTA (Hyporeninemic hypo aldosteronism).
▫ Renal immaturity in very low birth weight babies.
II. Endocrine:
▫ Salt losing congenital adrenal hyperplasia.
▫ Addison’s disease.
▫ Pseudohypo aldosteronism type I & II.
▫ Drugs – Spironolactine, Amiloride, Triamterene, Coterimoxa zole ACE (-).
III. Increased Potassium load:
▫ Drugs (KCl, Penicillin).
▫ Repeated blood transfusions.
▫ Rhabdomyolysis, hemolysis, large tissue bleeds.
▫ Hypercatabolic states (burns, surgery).
▫ Tumor lysis syndrome.
IV. Shift of K+ from cells:
▫ Metabolic acidosis.
▫ Hyperkalemic periodic paralysis.
▫ Insulin deficiency.
▫ β2 blocker drugs.
• Hypocalcemia (Ser Ca+2< 7mg/dL).
Vitamin D deficiency: Low intake, malabsorption.
Abnormal metabolism: Vitamin D dependent rickets.
Hypoparathyroidism.
Pseudo hypoparathyroidism.
Hyper phosphatemia.
Magnesium deficiency.
Acute pancreatitis.
Rapid correction of acidosis.
Alkalosis.
• Hyper calcemia (ser. Calcium > 11 mg %)
Excessive vitamin D administration.
Immobilization.
Malignancies.
Hyper parathyroidism.
Hyper thyroidism.
Sarcoidosis.
Use of thiazide diuretics.
Idiopathic Hyper calciuria of infancy.
Correction of Hyponatremic Dehydration:

Deficit x 0.6 x body weight.
Correction of Hypernatremic Dehydration:

• Establish perfusion with RL / NS /5% Albumin / Plasma.
• Then fluid containing 75 - 80meq/L Na till urine output reestablished.
• Then hypotonic fluid containing 10 - 15 meq/L Na.
68 | Paediatrics
Worksheet
• MCQ OF “FLUIDS, ELECTROLYTES & NUTRITION” FROM DQB

5 Neonatology
CONCEPTS
Â Concept: 5.1 Basic Neonatal Concepts: Resusci
tation; Normal Phenomenon
Â Concept: 5.2 Respiratory System
Â Concept: 5.3 Other important systems
Â Concept: 5.4 Neonatal Jaundice
Â Concept: 5.5 Neonatal Seizures
Â Concept: 5.6 Disorders due to Maternal Illness &
Congenital Hypothyroidism
70 | Paediatrics
Concept: 5.1 : Basic Neonatal Concepts: Resuscitation; Normal
Phenomenon
Learning Objective : T
o understand the basics of neonatal resuscitation & normal
phenomenon
Time Needed
1 reading
st
30 mins
2 reading
nd
15 mins
I. Neonatal Resuscitation :
10% - Assistance to begin breathing. 1% - Extensive resuscitation.
Neonatology | 71
High risk deliveries
a) Evidence of fetal distress-Sustained bradycardia, Scalp pH ≤ 7.2.
b) Thick MSL.
c) Prematurity (< 36 wks). Post maturity (> 42 weeks).
Low birth weight (< 2.0 Kg). High birth weight (> 4.5 Kg).
d) Major congenital anomalies diagnosed prenatally.
e) Hydrops fetalis.
f) Multiple gestation.
g) Cord prolapse.
h) Abruptio placentae.
i) Abnormal fetal presentation.
j) Prolonged , unusual / difficult labor.
k) PROM (> 24 hrs).
l) Foul smelling amniotic fluid.
m) Maternal diabetes mellitus
n) Rh or other isoimmunization
B&M – Tidal volume 5-8 ml/kg (15-25ml).
– Without reservoir – 40% Oxygen.
– With reservoir – 90-100% Oxygen.
Pop-off valve 30-40cm of H2O.
Suction Pressure – 100mm of Hg.
Bag and Mask Ventilation:

Contraindication:
1. Meconium aspiration syndrome
2. Diaphragmatic hernia
Indication:
1. Apnea/gasping respiration
2. HR<100/min
Vigorous baby:
1. Strong respiratory efforts.
2. Good muscle tone
3. HR>100/min
Not to Resuscitate:
i) <23 wks,
ii) <400gm
iii) Anencephaly
iv) Trisomy 13,18
Stop after resuscitation done for – 15 min
72 | Paediatrics
H/o narcotic analgesic in mother → naloxone (0.4 mg / ml) in a dose of 0.25ml / kg
Poor peripheral perfusion → Volume expanders, for example, 5% Albumin, Packed RBCs,
Whole blood @ 10ml / Kg, RL, NS
Ionotropes: Dopamine,Dobutamine
4. Meconium Stained liquor (MSL):
Intrapartum suctioning from mouth, pharynx and nose in all MSL: Now not
recommended.
Tracheal suction under laryngoscopic guidance fornon-vigorous infant
gasping / apnea, decreased muscle tone or HR < 100 / minis no longer done
(MODIFICATION IN NRP-2015 in 2017).
In MSL baby who is non-vigorous, directly begin with positive pressure ventilation.
Tracheal suctioning of vigorous infant with MSL does not improve outcome and may
cause complications.
Indications for Endotracheal Intubations:

1. Congenital diaphragmatic hernia.
2. Thick MSL.
3. Ineffective bag & mask ventilation.
Apgar scoring system:

Full form:
A: Appearance
P: Pulse
G: Grimace
A: Activity
R: Respiratory effort
Score:
Sign 0 1 2 Score
Heart rate Absent < 100/min > 100/min >7 normal
4 – 6 Asphyxia
Resp. effort Absent Slow (irregular) Good crying < 3 Asphyxia
Gasping Pallida
Muscle tone Limp Some flexion of extremities Active
Reflex irritability No Response Grimace Cough / Sneeze
Color Blue, Pale Pink body, blue extremities All pink
Important Definitions:
Neonate → From birth to four weeks (<28 days).
Early neonatal period – first 7 days of life.
Late neonatal – 7th to 28th day of life.
Neonatology | 73
Term baby – 37 to 42 wks (259-293 days.)
Pre-term baby – born before 37 completed wks.
Post term baby – born after 42 completed weeks.
Normal birth wt – 2500-3999 gm.
Low birth wt - <2500gm.
Very low birth wt - <1500gm.
Extremely low birth wt - <1000gm.
AGA – b/w 10th-90th percentile.
SGA - <10th percentile.
LGA - >90th percentile.
Macrosomia - ≥ 4kg.
Normal Neonatal Phenomenon-:
a) Milia – Distended Sebaceous glands on nose and face

b) Erythema toxicum:
On 2nd and 3rd day.
On trunk and face.
Discrete erythematous papules.
Disappears spontaneously.
74 | Paediatrics
c) Stork bites – pinkish gray capillary hemangiomata, mostly on forehead
d) Epstein pearl – epithelial inclusion cyst on palate and prepuce
e) Natal Teeth (pre deciduous) teeth –Supernumary teeth present at birth in
lowerincisionposition.
f) Withdrawal vaginal bleeding – on 5th-7th day

g) Subconjunctival hemorrhage
h) Transient pustular melanosis: Pustules with hyperpigmented base
Cephalhematoma crossing midline indicates an underlying # of skull.

• Caput succedaneum
Edema of scalp.
Prolonged labor.
Non fluctuant.
Does not have well defined margins
• New Ballard’s score or Dubowitz score for assessment of Gestational Age
• IUGR / SFD Baby :
Malnourished SFD (Asymmetric IUGR) infant - Cell size decreased; no. of
cells normal.
• Ponderal Index < 2.
• Brain/liver ratio>5.
Neonatology | 75
• HC>CC > 3cm.
Hypoplastic SFD / Symmetric IUGR infant – No. of cells decreased.
Mixed group – cell size decreased, no. of cells decreased
Ponderal’s index –
wt (gm)
x 100
Lt (cm)3
i) Breast engorgement:
j) Mongolian spots: May persist for one year.
• Cephalhematoma-Forceps delivery, vacuum extraction, prolonged labor.
Location related to presentation of head.
Sub periosteal hemorrhage.
▫ Soft and fluctuant with well defined
▫ outlined (limited by Suture Outline).
▫ Exaggerated physiological jaundice.
>2 – Asymmetric IUGR
2 or >2 – AGA/symmetric IUGR
• Pre natal Prediction of IUGR -
U/S – BPD < 8.5 mm at 37 weeks
Fetal movements – 12 to 20 weeks
I. V. Glucose tolerance test – Flat curve
Amniotic fluid – C peptide low
MCQ POINT: IUGR babies are Less prone to develop HMD but more prone for developing
Meconium Aspiration
• Low set ears associated with chromosomal anomalies, Down’s syndrome, urogenital
anomalies
• Pre auricular pits – Associated with deafness and proteinuria
• Choking cyanosis, excessive frothing form month soon after birth should arouse
suspicion of T. E. fistula.
• Breathing difficulty and cyanosis which improves on crying and open month and
worsens on feeding – Choanal Atresia.
• Congenital dislocation of Hip – Ortolani’s test, Barlow’s test, Rx – Reduction and
maintained by Pavlik’s Harness or frejka’s pillow splint (infant < 3 months age)
• VATER Anomalies
V - Vertebral Column – spina bifida
A - Anorectal anomalies
T - TE fistula
R - Renal Anomalies
• Single Umbilical Artery – Associated with – TEfistula, Cardiac anomaly, anorectal
malformation.
• DAOM hypoplasia (Depressor Angularis oris muscle Hypoplasia)– congenital dislocation
hip and congenital heart disease
76 | Paediatrics
Concept: 5.2: Respiratory Disorders
Learning Objective: To understand the basics of respiratory disorders
Time Needed
1st reading 30 mins
2 reading
nd
15 mins
Respiratory Disorders:
Scoring
Fig.: Silverman Anderson Scoring
Downe’s score for grading severity of respiratory distress

Feature Score 0 Score 1 Score 2
Cyanosis None In room air In 40% FiO2
Retractions None Mild Severe
Grunting None Audible with stethoscope Audible without stethoscope
Air entry Normal Decreased Barely audible
Respiratory rate <60 60-80 >80 or apnea
Neonatology | 77
1. Respiratory distress syndrome/ hyaline membrane disease
A. Incidence :
• Occurs almost exclusively in Premature
Infants ; never seen in IUGR babies
-30% of all neonatal deaths
• Incidence inversely proportional to gestational age and birth wt.
< 28wk 60 - 80 %
32 - 36 wk 15 - 30%
> 37 wks 5%
Association:
• White race • IDM
• Multiple pregnancies • Caesarean section
• Precipitous delivery • Asphyxia, Acidosis, Hypothermia
• Cold stress • H/o prior affected infant
B. Etiology:
Related to deficiency of surfactant
• Surfactant present in fetal lung homo- genate by 20wks (ie production begins).
• Amniotic fluid appears between 28 - 32 wks.
• Mature levels of pulmonary surfactant - 35wks.
C. Clinical Features:
• Resp. distress usually occurs within first 6 hours of life ; mostly within minutes of
birth.
• Tachypnea, grunting, intercostal & sub- costal retraction, nasal flaring (Anderson and
Silvermann scoring system).
Increasing cyanosis unresponsive to O2 administration.
Harsh tubular breath sounds / diminshed breath sounds.
Mixed acidosis.
Edema.
Ileus.
Oliguria.
• Death rare on D1, usually between D2-7, associated with IVH, pulmonary hemorrhage
and air leaks (interstitial emphysema, pneumothorax).
D. Diagnosis :
• Prenatal : L/S Ratio in Amniotic fluid (< 2.0 suggests immaturity).
• Post natal: CXR: Reticulo-granular pattern with air bronchogram (at 6 - 12hrs).
78 | Paediatrics
Fig.: CXR showing air bronchogram (in arrows) with fine reticulo-granular pattern in the background
ABG : Hypoxia Hypercarbia Metabolic acidosis

Lecithin sphingomyelin ratio (L/S) if > 2, HMD not usually present
(< 2 - 6% get HMD)
L/S ratio of 2 – 3.5 in DM 7 – 10% risk of IDM L/S > 3.5 – extremely low risk
of IDM
Shake test
False +ve
• Blood • Meconium
• IDM - L/S > 3.5 • Intrapartum asphyxia
• Erythroblastosis fetalis
E. Prevention :
Avoid premature delivery
< 34 wks - Give 2 doses of betamethasone to pregnant female with preterm labour at
least 24 hrs before delivery
-12 hrs apart. Dexamethasone is not recommended.
Max benefit 24hrs - seven days
May act synergestically with post natal exogenous surfactant therapy
F. Treatment :
Early CPAP with surfactant rescue therapy is cornerstone of management.
• Warm humidified O2 to keep pO2 55 -70mmHg.
• Causes of surfactant failure: Wrong administration, wrong dose, co-existing PDA
Neonatology | 79
Fig.: Surfactant Replacement Therapy in a neonate
G. Complications :
• Tube block.
• Cardiac arrest during intubation / suctioning.
• Subglottic stenosis.
• Pulmonary hemorrhage.
• Bronchopulmonary dysplasia - O2 dependency at 1m age / 36wks.
• Air leak syndrome.
• High concentration of O2 may cause Retrolental fibroplasia in premature infants.
80 | Paediatrics
2. Meconium Aspiration Syndrome:
A. Incidence : MSL -9 - 15% live births
Rare before 37 weeks
> 42 weeks - 30%
If pO2<50 , even with FiO2 70% apply
B. Nasal CPAP at 6 – 8 cm H2O.
If pO < 50, even with 100% O -
Meconium can be present in trachea without any evidence of meconium in
Mechanical Ventilation.
Indications :
1. Arterial pH < 7.2.
2. pCO2> 60mmHg. the mouth / larynx
Amount and thickness of meconium appear to be directly related to severity of
respiratory symptoms / signs
Prevention of passage of meconium in
3) pO2< 50mmHg at FiO2 70% - 100%.
4) Recurrent or prolonged apnea.
Exogenous surfactant.
Bovine - Survanta Synthetic - Exosurf
• Usually in first 24hrs of life preferable within 2 hours
• Repeated doses more effective than single dose (2 Exosurf/4 survanta> in 24 hrs
apart)
Utero : Use of transcervical amnioinfusion with NS in women whose labor is complicated
with thick meconium and oligohydramnios - reduces incidence of fetal distress and MAS
C. Management of Meconium Aspiration :
• Laboratory procedures
CXR (after 6hrs)
Sepsis screen
▫ TLC, DLC
▫ µESR
▫ Blood culture
ABG
• Observe closely for Respiratory Distress.
• Fluid restriction
• Ionotropes, if needed
• Broad spectrum antibiotics (Ampi + genta) if infiltrate on CXR
• If pO2< 50mmHg, increase FiO2 to 40%
• If FiO2 requirement > 40% - trial of CPAP
• Mechanical ventilation If pCO2> 60mmHg pO2< 50mmHg
Start with PIP - 30 - 35cm H2O, PEEP - 2 - 6cm H2O
Neonatology | 81
D. Complications
Air leak (10 - 20%) eg, Pneumothorax, Pneumomediastinum
Pulmonary HT& PPHN
E. Prognosis
Residual lung problems are rare but include symptomatic cough, wheezing &
persistent hyperinflation for 5 - 10yrs. Ultimate prognosis depends on CNS injury
from hypoxia & persistent fetal circulation
3. Transient Tachypnea of Newborn (TTN):

A. Synonyms :
“Wet lung” RDS type II
Transient, mild, self-limiting
B. Pathophysiology :
Transient pulmonary edema due to delayed resorption of fetal lung fluid by
pulmonary lymphatic system
C. Risk Factors:
Precipitous birth or operative delivery without labor.
Delayed cord clamping / milking of cord.
Macrosomia.
Excessive maternal sedation.
D. C/F :
Near term / term infant.
Tachypnea (> 80 / bpm) within 2 - 6hrs of birth.
Minimal or no respiratory distress.
No rales / rhonchi.
May persist for > 72hrs in severe cases (normally improvement occurs within 2
– 3 days).
E. Management :
O2 by hood / nasal cannula ray – Prominent vascular markings & Prominent
interlobar fissure.
Nasal CPAP.
If FiO2> 60% or positive pressure ventilation to maintain oxygenation, diagnosis
of TTN unlikely.
F. Feeding :
If RR < 60 / min - breast feeding
If RR 60 - 80/ min - NG tube
If RR > 80 / min – IVF
82 | Paediatrics
Concept: 5.3 : Other systems in neonates
Learning Objective : To understand the basics of temperature control & hypoglycemia
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
Temperature Control:
At normal delivery room condition (25ºC)
• Temp falls 0.3ºC/min
Normal temp. 36.5 – 37.5ºC
36-36.5ºC – cold stress
32-36ºC – mild to mod hypothermia
<32ºC – severe hypothermia
Source of thermogenesis in term newborn ⇒ brown fat ⇒ lipolysis ⇒ decreased by
hypoxia and β blockade.
MCQ POINT: No shivering seen in neonates.
1. Temperature maintenance in term v/s preterm neonates

Preterm neonates
a) Have higher rates of skin surface area to weight
b) Have decreased subcutaneous fat
c) Stores of brown fat are less well developed
d) Less calorie intake
e) O2 consumption is limited due to lung problems
f) No shivering mechanism seen to generate heat
2. Cold stress:
Premature infants subject to acute hypothermia ⇒ peripheral vasoconstriction ⇒
anaerobic metabolism and metabolic acidosis ⇒ pulmonary vasoconstriction ⇒
hypoxia
Caloric loss from unrecognised chronic cold stress ⇒ inability to gain weight
3. Neonatal cold Injury:

LBW infants
Term infants with CNS disorder
C/F :
• Bright red color • Edema / Sclerema
• Core temperature is often below 32.2°C (90° F)
• Hypotension • Bradycardia
• Shallow respiration • Poor suck
• Decreased reflexes • Metabolic acidosis
• Hypoglycemia • Oliguria
Neonatology | 83
Management:
• Warm slowly in incubators set 1.5°C higher than abdominal temperature, vit k
• Fluid replacement (Saline / 5% albumin)
4. Hyperthermia :
a) Excessively hot environment b) Infection
c) Dehydration d) CNS dysfunction
Hyperthermia- trunk & extremities are same at temperature, baby is vasodilated
Hypothermia- Baby is vasoconstricted and extremities are 2° to 3° C colder than trunk
Hypoglycemia:
1. Incidence : 8.1% LGA 14.7% SGA
2. Definition : Blood glucose<40mg/dl, irrespective of gestational age(Latest definition)
3. Etiology :
A. I ncreased utilization of glucose : Hyperinsulinism
a) IDM
b) Erythroblastosis
c) Islet cell hyperplasia / hyperfunction
d) BeckwithWeidmann Syndrome
B. Decreased production / Stores
a) Prematurity b) IUGR
c) Inadequated calorie intake
C. Perinatal stress:
a) Sepsis b) Shock
c) Asphyxia d) H
ypothermia (increased utilization)
D. Exchange transfusion with heparinised blood that has low blood glucose in absence
ofglucose infusion
E. Defects in carbohydrate metabolism
Glycogen storage disease
Fructose intolerance
Galactosemia
F. Polycythemia
4. C/F :
a) Lethargy, apathy, limpness b) Apnea
c) Cyanosis d) Seizures, coma
e) Feeding f) Tremors, jitteriness or irritability
5. Lab. diagnosis : Using reagent strips
a) Infant of diabetic mothers - 1, 2 , 4 & 6 hrs of life
b) Preterm & SGA infant - 1, 6, 12, 24, 36 , 48hrs and at d3& d4
c) Infants with erythroblastosis fetalis - after exchange transfusion with CPD blood
84 | Paediatrics
6. Management :
Prevention by :Early & frequent feeding in at risk infant
In asymptomatic cases: Give oral feed & recheck after 30 min, if still <40, start I.V.
Dextrose infusion. In asymptomatic cases with RBS <20, directly start IV Dextrose
• In symptomatic cases - 2ml / kg of 10% Dextrose(BOLUS), Followed by infusion
of glucose @ 6-8mg / kg / min – increase upto 12 mg/kg/min – if still low → start
hydrocortisone.
• Recheck glucose level after 20 - 30 minutes & hourly until stable
• In emergent situations glucagon @ 0.1mg / kg im can be given until iv glucose can
be given
Neonatal sepsis: A general term which includes neonatal pneumonia, septicemia &
meningitis. Also may include systemic infections like UTI, Osteomyelitis etc.
Causes: World: Grp B strep > E.coli > Klebsiella
In India: Klebsiella > Staph > Pseudomonas > E.coli
Types:
Early onset(Onset within 72 hrs): Mostly due to infection from maternal genital tract
Late onset (Onset >72 hrs): Infection acquired from local nursery environment.
Risk factors include maternal chjorioam nionitis (maternal fever, uterine tenderness,
foul smelling liquor, unclean or multiple PV examainations), prolonged rupture of
membranes>18 hrs, male child etc. Breast feeding is protective for neonatal sepsis.
Clinical Presentation: General: Lethargy, poor feeding, Metabolic acidosis, temperature
disturbances (hypothermia more common than fever), sclerema in advanced cases.
CVS: Shock, poor perfusion, tachycardia or bradycardias.
Resp: Tachypnea (RR>60/min), retractions, grunting, cyanosis, nasal flaring.
GIT: Vomiting, increased pre-feed aspirates, decreased bowel sounds, bleeding per rectum,
abdominal distension.
CNS: High-pitched cry, bulging fonta nelles, seizures, altered sensorium, tone
abnormalities, sluggish reflexes.
Renal: Oliguria, azotemia.
Metabolic: hypoglycemia, hypocalcemia. Metabolic acidosis, prolongation of neonatal
hyperbilirubinemia.
Investigations:
Sepsis screen: Includes WBC count (Leucopenia is seen), Absolute neutrophil count,
Increased ESR>15 mm, Increased CRP>10, Increased Band forms leading to raised I:T
ratio of neutrophils. Recommended only in late onset sepsis.
Blood culture: Gold standard
LP: to look for CSFexamination. Done if blood culture positive or CNS signs & symptoms.
Treatment: General- Maintain euthermia, euglycemia, ensure adequate feeding/fluids
Empirical antibiotics: Ampicillin + Gentamycin is 1st line treatment. Add Cefotaxime if
meningitis.Change antibiotics as per culture report.
Exchange transfusion in advanced fulminant cases.
Neonatology | 85
Concept 5.4 : Neonatal Jaundice
Learning Objective: To understand the basics of jaundice in newborns
Time Needed
1st reading 30 mins
2 reading
nd
10 mins
Jaundice and Hyperbilirubinemia in Newborn:

1. Incidence: Seen in 1st week in 60% term infants and 80% preterm infants
2. Drugs that cause significant displacement of bilirubin from albumin in vitro:
a) Sulfonamides.
b) Moxalactam.
c) Aspirin.
d) Tolbutamide.
e) Rapid infusion of ampicillin.
f) Benzyl alkonium chloride (used as preservative in Diazepam).
3. Pathologic conditions leading to increased enterohepatic circulation:
a) Decreased external intake.
b) Intestinal atresias.
c) Meconium ileus.
d) Hirschprung’s disease.
4. Physiologic hyperbilirubinemia:
Term infants : D3 - 6 - 8mg / dl
Rise to 12mg / dl is in physiologic range
Preterm : D5 - 10 - 12mg / dl
Serum Bil≤ 15mg / dl is in physiologic range
Reasons :
a) Increased RBC volume / kg & decreased RBC survival (90 days v/s 120 day).
b) Increased ineffective erythropoeisis and increased turnover of non hemoglobin
hemeproteins.
c) Increased enterohepatic circulation.
d) Defective uptake of bilirubin from plasma.
e) Defective conjugation due to decreased UDPG – T activity.
f) Decreased hepatic excretion of bilirubin.
5. Pathologic hyperbilirubinemia:
Onset before 24 hours of age.
Any elevation of serum bilirubin that requires phototherapy ( > 15 mg% ).
Rise in S. Bil> 0.5mg / dl / hr or 5mg / dL / 24hrs.
Jaundice persisting after 2 to 3 weeks.
Any conjugated hyperbilirubinemias in neonatal period.
86 | Paediatrics
6. Diagnosis of Hyperbilirubinemia:
Clinical Jaundice
↓
Measure Total Bilirubin
↓
Bil≥ 12mg / dl Bilirubin < 12 mg / dl

and infant < 24 hrs old and infant > 24hrs old
↓ ↓
COOMB’S TEST Follow BILIRUBIN
↓

Positive coomb’s Negative Coomb’s
↓ ↓
Identify Antibody DIRECT BILIRUBIN
• Rh ↓
• ABO
• KELL. etc Direct Bil> 2 consider DIRECT Bil< 2
• Hepatitis ↓
• Intrauterine viral or HEMATOCRIT
toxoplasma infection
• Biliary obstruction Normal or low High
• Sepsis (polycythemia)
• Galactosemia
• α1 AT deficiency RBC morphology
• Cystic fibrosis RETICULOCYTE COUNT
• Tyrosmosis
• Cholestasis
• Hyperalimentation ?
• Syphilis
Modified Kramer’s rule: Skin color as a guide to level of bilirubin
Kramer zones Approximate TSB level
Mild jaundice (Lemon Deep jaundice (Orange
yellow color) yellow color)
1. (Face and neck) 5 to 7 mg/dL 7 to 9 mg/dL
2. (Chest and upper 7 to 9 mg/dL 9 to 11 mg/dL
abdomen)
3. (Lower abdomen and 9 to 11 mg/dL 11 to 13 mg/dL
thighs
4. (Legs and arms/ 11 to 13 mg/dL 14 to 16 mg/dL
forearms)
5. (Palms and soles) 13 to 15 mg/dL 17 mg/dL or more
Neonatology | 87
Drugs (eg Penicillin) Asphyxia

DIC Infection
Gilbert’s syndrom
Drugs (eg novobiocin)
Galactosemia
7. Breast milk jaundice is of late onset
By day 4, bilirubin level starts rising- reaches 20 - 30mg / dl by 14 days of age.
Then falls reaching normal by 4 - 12wks of age. (Cause – Inhibitory substances in
Breast milk which interferes with conjugation e.g. Pregnanediol & free fatty acids)
Stop breast-feeding - bilirubin level falls rapidly in 48hrs
70% recurrence in future pregnancies
Breast feeding jaundice:

Breast fed infants have slightly higher level of bilirubin in first 3 - 4 days of life compared
tobottle fed infants. Occurs because of excess enterohepatic circulation and relative
dehydration. This type of jaundice needs continuation of Breast feeding.
RBC Morphology:
Reticulocyte Count:
Abnormal Normal
Spherocytosis Enclosed hemorrhage
Causes of Prolonged Unconjugated Hyperbilirubinemia in new born :

a) Immaturity.
b) Hemolytic disease (Blood group incompatibility).
c) Breast milk jaundice.
d) Hypothyroidism.
e) Pyloric stenosis & conditions associated with functional & organic intestinal stasis.
f) Criggler Najjar syndrome.
g) Concealed hemorrhage.
i) Malaria.
8. Bilirubin Toxicity :
A. Kernicterus : Yellow staining of brain by bilirubin together with evidence of neonatal
injury
Seen in
a) Basal ganglia: MC site.
b) Cranial nerve nuclei….asked in MCQs.
c) Brain stem nuclei.
d) Cerebellar nuclei.
e) Hippocampus… asked in MCQs.
f) Anterior horn cells of spinal cord.
88 | Paediatrics
B. Acute bilirubin encephalopathy : Seen in infants with high (> 20mg / dl) bilirubin
levels with Kernicterus on autopsy.
3 Phases
a) Phase 1: Hypotonia, lethargy, high pitched cry & poor suck
b) Phase 2: Hypertonia of extensor muscles, fever & seizures. Survivors develop
chronic bilirubin encephalopathy(opisthotonus)
c) Phase 3: Hypotonia replaces hypertonia after 1week of life
C. Chronic bilirubin encephalopathy : Athetosis, (Deafness) SNHL, limitation of
upward gaze, dental dysplasia, choreathetoid CP, neural retardation
9. Approach to Indirect Hyper bilirubinemia in healthy term infants without
hemolysis
Fig. : AAP Nomogram for phototherapy in hospitalized infants of 35

or more week's gestation (Reproduced with Permission5)
Age (hr) Phototherapy Phototherapy + Exchnage Trsf

Exchange Trsf (if PT fails)
24 - 48 ≥ 15 - 18 ≥ 25 ≥ 20
49 - 72 ≥ 18 – 20 ≥ 30 ≥ 25
> 72 ≥ 20 ≥ 30 ≥ 25
Approach in preterm and LBW babies with pathological jaundice

Birth weight Healthy Baby
Phototherapy Exchange Trasfusion
<1000 gm 5–7 11 – 13
1001–1500 gm 7 – 10 13 – 15
1501 – 2000 gm 10 – 12 15 – 18
2001 – 2500 gm 12 – 15 18 – 20
Neonatology | 89
10. Phototherapy : Special blue lamps at 425 - 475 nm most effective. Irradiance 5 - 9
micro w / cm2 /nm
A. Photochemical reactions:
a) Photoisomerization
b) Structural isomerization to lumirubin – most important.
c) Photo oxidation to small polar compounds excreted in urine
Done with infant being Naked ;with eyes & genitals covered
10 - 20% extra fluid required compensating for losses
Stop when. Bilirubin reaches safe level.. Determined via AAP charts
Discharge determined by Bhutaninormograms.
B. Side Effects:
Increased insensible loss
Watery diarrhea and increased fecal water loss
Tempurature disturbances
Retinal damage
Bronze baby syndrome: Particularly if conjugated fraction also raised.
11. Exchange Transfusion:
A. Indications: In hemolytic disease
a) Cord bilirubin > 4.5mg / dl & Cord Hb< 11 g%.
b) Bilirubin level rising over 1mg / dl / hr despite PT.
c) Hb level is between 11 & 13g / dl and bilirubin level is rising over 0.5mg / dl / hr
despite PT.
d) The bilirubin level is 20mg / dl or it appears it will reach 20mg / dl at the rate it is
rising.
B. Blood for exchange transfusion :
In Rh hemolytic disease – O negative cross matched against the mother (Ideal = O
Rh negative blood cells suspended in AB plasma).
In ABO incompatibility - O negative or Rh of mother - compatible with the mother and
infant cross-matched against mother & infant.
Exchange transfusion usually involves double volume exchange.
II. Cross matched Baby’s B.G. but Rh negative can also be used.
Done by : PUSH-PULL Technique
C. Complications :
a) H ypocalcemia and hypomagnesema.
b) Hypoglycemia.
c) Hyperkalemia.
d) Metabolic alkalosis.
e) Graft v/s host disease.
90 | Paediatrics
Concept 5.5 : Neonatal Seizures
Learning Objective: To understand the basics of seizures in newborns
Time Needed
1st reading 10 mins
2 reading
nd
5 mins
12. Pharmacological TT – Phenobarbitone, Agar, clofibrate, metalloporphyrin, IVIG
• Neonatal Seizures –
Commonest cause of NN seizures– Hypoxic ischemic encephalopathy (following
B. Asphyxia)
Subtle seizures – MC in preterm babies – jerking of eyes, blinking, staring /
vacant look, sucking, chewing smoking and apneic attacks
1st day seizures – HIE, early onset hypocalcemia, pyridoxine dependency,
hypoglycemia
Hypocalcemia – 2nd most common biochemical abnormality after hypoglycemia
causing neonatal seizures (mostly occur on first day or at the end of first week).
Late onset hypocalcemic seizures carry best prognosis out of all neonatal seizures.
Hypomagnesemia of Baby with Hypocalcemia does not respond to calcium therapy
alone.
Seizures between 1 – 3 days – ICH, Hypoglycemia, Narcotic withdrawal, Inborn
errors of metabolism,Sepsis.
Seizures between – 4-7 days– Tetany, meningitis, TORCH, developmental
malformation and kernicterus.
Hypoglycemic seizures are associated with high rate of sequelae among metabolic
causes.
• EEGin neonatal seizures:
Maple syrup urine disease - 5-7 Hz comb like rhythm.
Pyridoxine dependency – generalized 1-4 Hz sharp and slow wave.
Herpes encephalitis - multifocal periodic pattern.
SAH – well baby with seizures
DOC for neonatal seizures (non metabolic seizures) – Phenobarbitone.
Neonatology | 91
Concept 5.6 : Disorders due to maternal diseases
Learning Objective: To understand the basics of different maternal diseases and
impact in newborns
Time Needed
1 reading
st
30 mins
2 reading
nd
15 mins
Disorders due to maternal diseases:

Maternal Thyrotoxicosis – Neonatal thyrotoxicosis, goitre.
Maternal diabetes – premature delivery, IUD, RDS, renal vein thrombosis, hypoglycemia.
Maternal SLE – complete heart block.
• Maternal medications and teratogenic effects
Smoking, alcohol – IUGR.
Androgens – cleft lip, palate, TEF, Masculization CHD.
Barbiturates – cleft lip, palate, CHD.
Chloroquine / Quinine – deafness.
Diazepam – cleft lip and palate, apnea, hypothermia.
Hydralazine – Thrombocytopenia
Iodine / propyl thiouracil – hypothyroidism, goitre.
Lithium – CHD, goitre (Ebstein’s anomaly).
Vitamin D (Heavy doses) – supravalvular, AS, Elfin facies,mental retardation,
ventricular opacity.
Diphenyl hydantoin – (Fetal, cardiac, limb anomalies).
• Infants of diabetic mothers prone for
Still birth.
Renal vein thrombosis.
Preterm baby.
Priapism.
Macrosomia- Congenital malformation – (3-4 times more than normal) CHD,
musculoskeletal deformities, neural tube defects, caudal regression syndromes).
RDS (Min of amniotic fluid SPC is mandatory for assessing fetal lung maturity).
Hypo-glycemia calcemia, magnesimia.
Hyperbilirubinemia.
Polycythenia.
Sacral agenesis (caudal regression syndrome).
PPH (PersistentPulm HTN).
Lazy left colon syndrome.
MC CHD in infant of diabetic mothers is: VSD…. MCQ point
• Neural tube defects – Prenatal diagnosis – (most common – LS
meningomyelocoele usually associated with chiari II Malf.)
92 | Paediatrics
i) Raised AFP in maternal serum.
ii) Raised AFP and acetylcholinesterase in amniotic fluid.
iii) U/S
▫ Skull vault absent – Anencephaly
▫ Lemon sign and Banana sign, Hydrocephalous (spina bifida).
iv) Chromosomal studies
Prevention – Periconceptional intake of folic acid decreases risk.
• Recurrence risk: 1 in 33 for 1 affected pregnancy
1 in 10 for 2 affected pregnancy
Congenital Hydrocephalus:
MC cause – Obstruction of aqueduct of sylvius
Dandy walker syndrome – Posterior fossa cyst and defects of cerebella vermis
Arnold chiari Malformation – displacement of brain stem and cerebellum in spinal canal.
• Caudal regression syndrome / caudal dysplasia / sacral agenesis associated with
maternal D.H.
• Spinal dysraphism – Lesion involving conus medullaris and filum terminale
Lipomyelomeningocele, congenital dermal sinus, diastemetomyelia.
Urinary and fecal incontinence.
• Maternal disorders and adverse effects on fetus: -
Toxemia – IUGR,thrombocytopenia,leucopenia
Polyhydramnios – Anencephaly, TE fistula, Duodenal Atresia.
Oligo-Hydramnios – Bilateral renal agenesis, obstructive uropathy.
PROM – Pneumonia, septicemia.
• Congenital Diaphragmatic Hernia
Also known as :Bochdalek’s Hernia, Site: Left side(85%), Posteriorly, Sex: F>M.
Cause of distress in CDH: A combination of Pulmonary hypoplasia on affected side
and pulmonary hypertension in remaining lung.
Presentation:
• Upto 50% can be detected prenatally
A. MC presentation is in immediate neonatal period with acute, progressive
respiratory distress, MC in first 6 to 12 hrs of life.
B. Some patients are asymptomatic in first 48 hrs(known as “honeymoon period”)
and present later in neonatal period.
C. Some present even beyond neonatal period and rarely even beyond infancy.
• The point of Maximal cardiac impulse is deviated away from the
side of hernia(commonly to right side) due to mediastinal shift.
- Scaphoid abdomen and increased Chest wall diameter also seen.
IOC : CXR which shows Intestinal loops in thoracic cavity and also mediastinal shift.
Treatment: Rapid identification of disorder and early Intubation and ventilation is the
mainstay.
Neonatology | 93
• Prolonged bag and mask ventilation should be avoided as it worsens herniation and
worsens the already underlying distress.
• First step is to intubate and start ventilation. Then do nasogastric decompression.
• Initially start conventional
• If conventional ventilation fails, Go in for High frequency Oscillometric ventilation(HFOV).
• Newer modalities in CDH : Extracorporeal membrane oxygenation(ECMO), Inhaled
NO
Role of surgery: Surgery is definite management but always delayed beyond 48 hrs of
presentation. Usually done around 7th day of life after stabilisation
Prognostic factors: Pulmonary hypoplasia, pulm HTN, onset <24 hrs of age, associated
defects and need for ECMO.
Surgical Time Table:

Biliary Atresia - Earliest Possible, Best before 4-6 weeks and preferably with in 12 weeks
Cleft lip – 2-3 months
Cleft Palate – 10-12 months
Ectopic anus in vestibular region – 2-3 months
Epispadias – 1 year (chordie correction) and urethroplasty 6 months
later
Hirschsprung’s disease – 12 – 15 months
Hydrocele – after 6 months
Hypospadias – (i) Any time after birth (Meatotomy)
(ii) 6 months (chordie correction)
(iii) U
rethroplasty after 6 months of (ii)
Phimosis – 2-3 years (circumcision)
Tongue tie – 1 year
Umblical Hernia – 2-3 years
Undescended testis – 15-18 months
Hemangioma – 5-6 years
Syndactyly – 1-2 years
Sterno mastoid tumors – Physiotherapy scan after birth and tenotomy around 1
year of age if torticollis persists.
Exstrophy Bladder – (a) B
ladder closure with in 48 hours
(b) B
ladder neck repair & reflux surgery – after 2 year
(c) U
rethroplasty – After achieving continence
(d) Augmentation cystoplasty – 8-10 years
94 | Paediatrics
VI. Neonatal Infections :

I. Toxoplasmosis :
A. Etio : Toxoplasma gondii, obligateintracellular protozoan parasite
Definitive host - Cat
B. Epidemology :
MC latent infection of humans throughout the world
Significant antibody titres have been detected in 50 - 80% of residents of same
localities
Higher prevalence of infection usually in warmer, more humid climates
• Mode of infection: Ingestion of infected meat
Vertical from infected mother to the fetus (avg, rate - 30 - 40%)
Infected blood / blood products / organ transplants
C. Pathology : Histologic changes in CNS, retina & choroid : Chorioretinitis
Area of calcification in CNS
• Periaqueductal and periventricular vasculitis and necrosis with sloughing of brain
tissue → hydrocephalus
D. Clinical features :
Transmission rate in T1 = 15%
T3= 60%
At term = 90%
Four Patterns :
a) Symptomatic neonatal disease
b) Symptomatic disease occuring during first months of life
c) Sequelae or relapse in infancy , later childhood
d) Subclinical infection
Clinical / Lab. findings % Sequelae %
Chorioretinitis 94% Mental retardation 89%
Abnormal CSF 54% Convulsion 83%
Anemia 50% Spasticity & palsies 76%
Convulsion 50% Severely impaired vision 69%
Intracranial calcification 50% Hydrocephalus 44%
Jaundice 29% Microcephaly 17%
Hydrocephalus 28% Deafness 9%
Splenomegaly 21%
Lymphadenopathy 17%
Hepatomegaly 17%
Cataracts 5%
Note : 80 - 90% of infants with congenital toxoplasma do not have overt signs at birth. However they remain at risk for long
term - ophthalmologic & neurologic sequelae.
Neonatology | 95
E. Diagnosis :
a) Sabin Feldman dye test - Both IgG & IgM antibodies are detected - additional
serologic tests required. Still considered the Gold Standard.
b) IgG fluorescent antibody test (IgG - IFA). Antibodies appear 1 -2weeks after
infection; reach high titers after 6 - 8wks.
Significant false +ve& false -ve.
c) Double sandwich enzyme linked immunosorbent assay (IgM - ELISA).
f Detects approx 75% of infants with congenital infection.
Avoids false +ve result due to rheumatoid factor produced by uninfected

infants in utero and false negative result due to high levels of passively
transferred maternal IgG in fetal serum.
d) IgM immunosorbent assay (ISAGA)
f No false +ve results
f More sensitive than IgM ELISA and may detect sp. IgM antibody before & for
longer periods of time than IgM ELISA.
e) IgA ELISA : More sensitive than IgM ELISA for detection of congenital infection as
well as for detection of acute infection in pregnant women.
f) Polymerase chain reaction (PCR): Sensitivity and specificity of this test using
amniotic fluid at ≥ 18 wks ≈ 100%.
Other tests:
a) Leucocytosis.
b) Eosinophilia.
c) Raised LFT (GGTP, LDH).
d) Total IgM.
Algorithm for Toxoplasma antibody screening in Pregnant women:

a) Initial serology performed at < 2m gestation
Negative dye test Positive dye test Positive dye test
↓ Neg IgM Pos IgM
No infection (at risk for acute ↓ ↓
infection in pregnancy) Infection before conception Possible acute infection
(no risk to fetus) ↓
Repeat dye test in 3 weeks
↓
Stable or decreased titer
Probable infection nearor
Before conception
(No risk to fetus)
↓
Increased dye titer - Acute maternal
infection (fetus at risk)
96 | Paediatrics
b) Initial serology performed later in gestation
Neg dye titer Presence of 2 of the following
↓ Clinical symptoms
No infection High dye titer
(at risk for acute infection before delivery) Pos IgM
↓
Acute maternal infection (fetus at risk)
F. Treatment :
• Maternal treatment with spiramycin
• Reduces the incidence of vertical transmission but the severity of disease when it
occurs may not be altered
• In confirmed cases of fetal infection / or acute maternal infection occured in T2
- pyrimethamine, folinic acid & Sulfadiazine should be given begining 24 weeks
gestation. This regimen may be altered with spiramycin every 3 weeks
After Birth :
Pyrimethamine daily for 2 - 6months than alternate day to complete 1 year of therapy
Sulfadiazine in 2 divided doses each day for 1 year. Folinic acid
2. Rubella :
A. C/F: Early gestation infection may result in multiple organ anomalies
Cataract (78%) SNHL (66%)
Congenital heart disease (PDA, PS) (58%)
IUGR Retinopathy
Microophthalmia EEG abnormalities
Hypotonia Hepatosplenomegaly
Thrombocytopenic purpura Radiographic bone luencies
Diabetes mellitus
Sequelae :
Ocular disorder SNHL
Psychomotor retardation Cardiac abnormalities
Mental retardation
B. Diagnosis:
Incidence of infection in fetus with maternal rubella 1-12 wk – 81%
13-16 – 54%
17-22 – 36%
PUBS : Detection of IgM. Antibody 23-30 – 30%
Neonatology | 97
Chorionic villus biopsy, detection of rubella antigen & RNA 30-36 – 60%
Post natal diagnosis >36 – 100%
• Isolation of rubella virus- saliva, urine > 20 wks – no abnormality

• Detection of rubella specific IgM in cord / neonatal blood
• Persistent rubella specific titers over time
• No specific treatment
3. Cytomegalovirus :most common i/u infection
• No known vector for transmission
• Result of intimate personal contact / exposure to infected breast milk / blood / blood
products
• Incidence : 0.2 - 2.4% of all L.B.
Perinatal transmission: Common
10 - 60% by 6m of age
Sources : Genital tract secretions at delivery and breast milk
Immunosuppressed pts and seronegative patients have a much higher (30 - 60% risk
of disease)
Pathology :
• Enlarged intranuclear inclusion bearing cells
• Induce focal necrosis in brain & liver which may be extensive and accompanied
bygranulomatous change with calcification
Most commonly infected organs : Lung, Liver, Kidney, GIT, Salivary gland
C/F :
• Subclinical infection in most patients
• Infections acquired from mother / other contacts - asymptomatic & no sequelae
• Premature infants with transfusion acquired infection - exception
Treatment :
• Ganciclovir
• CMV retinitis & gastrointestinal disease appear to be clinically responsive to therapy
;reappears on cessation
IV. Infections: Management of the Baby
I. Hepatitis B: Baby born to a mother with hepatitis and positive HBs Ag or unknown
HBs Ag status
Diagnosis :
• PP-65 Antigen detection in serum: a latest screening test; now commercially available
in India also.
Virus isolation from urine, saliva, BAL, milk, cervical secretions, buffy coat, tissues
obtained by biopsy: Shell Vial culture technique is used.
Demonstration of specific DNA sequelae by PCR and DNA hybridization techniques
Primary infection - seroconversion or simultaneous detection of IgG & IgM ( CFT,
Neutralization, IFA)
98 | Paediatrics
Best samples for PCR study for congenital CMV: Sputum, followed by urine
(AIIMS NOV 2017 MCQ)
Prevention :
Passive : Hyper immune plasma / globulin reduces the risk of symptomatic disease but
does notprevent infection
Active immunization : Live attentuated vaccines : immunogenic but immunity wanes
quickly
Indication : - Seronegative women in child bearing age
- Seronegative transplant patients
(1) Hepatitis B Immunoglobulin (HBIG) 0.5 lM in single dose immediately after birth
(Best) or within first 12 hours of life. If not available immune serum globulin 0.5 ml IM
may be given.
Hepatitis B vaccine should also be given simultaneously with HBIG but at different site.
(Repeated dose of HBV at 1 and 6 months of life)
(2) Breast feeding to continue
Infant born to mother with acute HAV infection or Acute NANB hepatitis in perinatal
period should receive immune serum globulin 0.5 ml I.M.
Baby born to a mother with Tuberculosis: -
↓ ↓
Asymptomatic baby Symptomatic baby
# - Symptomatic Baby: -(i.e. Cl. F. s/o congenital tuberculosis)
Diagnostic work up includes
1. Screen mother and close family contacts
chest x ray.
sputum for AFB × 3 consecutive days.
2. Baby -
a- Chest x ray.
b- G. A for AFB and culture.
c- Mantoux test – unreliable in neonatal period. Positive test confirm tuberculosis and
negative test does not rule out.
d- Liver biopsy.
e- CSF examination.
3- Send placenta for H. P. E.
Treatment - 2 HR7 + 7 HR.
B) Asymptomatic Baby –
1. Clinically normal baby.
2. Mother had T.B. before pregnancy but received full treatment.
3. Mother on ATT during pregnancy (sputum negative).
4. High risk situation (irregular treatment, sputum + , CXR of mother s/o miliary TB
/ TBM open case).
1. Clinically normal baby – BCG to baby at birth.
Observe and R/V mother – sputum exam and CXR 3-6 months after delivery.
Neonatology | 99
2. Mother had TB before Pregnancy (completed full treatment)
BCG to baby at birth.
F/U to CXR, sputum of mother 3-6 months post partum.
3. Mother on ATT during pregnancy – (sputum negative)
BCG to baby at birth.
F/v of mother.
Continue breast feeding in baby in all cases of maternal TB.
4. High Risk situations : - INH prophylaxis to baby for 6 months at 10 mg/kg dose
Continue breast-feeding. No need to isolate baby and mother.
III. Baby Born to mother with chicken pox: Risk of neonatal infection if mother gets
clinical chicken pox lesions 5 days before to 2 days after delivery.
Neonatal varicella: Produces Necrotizing pneumonia.
A. Resolution of maternal chicken pox infection stage prior to hospitalization (within 21
days prior to delivery)
a) Maternal isolation is not required.
b) Isolate the NB from other infants (Room in with mother).
B. Active lesions in mother at admission :
a) Isolate mother.
b) Administer VZIG 125U IM to baby soon after birth, if maternal disease begins <
5 day before delivery or within 2 days post partum.
c) Isolate infants from mother until she is non infectious (i.e. lesions show scab
formation).
 Remember that congenital varicella(IUGR, cicatrical skin lesions and limb
hypoplasia) is different from neonatal varicella (severe pneumonia)
Congenital Hypothyroidism:
MC cause of congenital hypothyroidism is: Thyroid dysgenesis. (85%)
MC form of thyroid dysenesis is an ectopic gland Other causes are
• Inborn error of thyroxine synthesis (10%).
• Transplacental maternal thyrotopin – receptor blocking antibody (TRBAb) (5%).
MC of the T4 synthetic defects is defects of organification and coupling mediated by
thyroid peroxidase.
Presentation: Lethargy, delayed relaxation of DTRs, bradycardia, wide open AF, prolonged
jaundice (first clinical clue), hypotonia.
Screening: By Heel prick for TFTs. Timing: >48 hr of life (Ideally at 72 hr of life)
Treatment: levothyroxine at 10-15 micrograms/kg/day.
Pendred syndrome:
• Autosomal recessive inheritance.
• Sensorineural deafness + goiter.
• Organification defect.
100 | Paediatrics
Worksheet
• MCQ OF “NEONATOLOGY” FROM DQB

6 Endocrinology
CONCEPTS
Â Concept: 6.1 Hypothyroidism
Â Concept: 6.2 Thyroiditis
Â Concept: 6.3 CAH
Â Concept: 6.4 Cushing syndrome
Â Concept: 6.5 Precocious puberty
Â Concept: 6.6 GH deficiency
Â Concept: 6.7 Ambiguous genitalia
Â Concept: 6.8 DI
102 | Paediatrics
Concept 6.1: Hypothyroidism
Learning Objective: To understand the basics of hypothyroidism and management
Time Needed
1st Reading 20 mins
2 Look
nd
10 mins
I. Hypothyroidism:
Etiology :
• Thyrotropin releasing hormone deficiency.
• Thyrotropin (TSH) deficiency.
• Thyrotropin unresponsiveness.
• Defect of fetal thyroid development.
• Defect in thyroid hormone synthesis
(Goitroushypothyroidism):
Iodide transport defect.
Thyroid peroxidase defect.
Thyroglobulin synthesis defect.
Deiodination defect.
• Iodine deficiency (endemic goiter):
Neurologic type.
Myxedematous type.
• Maternal antibody - TRB Ab.
• Maternal Medications:
Radioiodines, iodides.
Prophylthiouracil, methimazole.
Amiodarone.
• Autoimmune (acquired hypothyroidism):
Hashimoto thyroiditis.
Congenital Hypothyroidism:
• 1 in 4,000 infants.
• 90% - thyroid dysgenesis.
C/F :
• M : F = 1 : 2.
Earliest sign - prolongation of physiologic icterus.
Feeding difficulties, Somnolence, Choking spells during nursing, Respiratory
difficulties due to large tongue, Constipation, Umblical hernia, Subnormal
temperature, Bradycardia.
• 3 - 6m - Shunted growth, head size normal / increased, wide open AF, PF., eyes far
apart and bridge of nose is depressed. Delayed dentition. Myxedema, Carotenemia
(with white sclera). Skin dry and scaly. Developmental delay ++, hypotonia.
Endocrinology | 103
Diagnosis :
• Neonatal screening program - T4& (TSH)
• Screening done by heel prick on day 3 or 4 of life or when signs & symptoms appears
if original screen was normal.
Polyglandular autoimmune syndrome type I, type II, III.
• Iatrogenic:
Prophylthiouracil, methimazole, iodides, lithium, amiodarone .
Irradiation.
Thyroidectomy.
• Systemic disease:
Cystinosis.
Histiocytic infiltration.
• X ray knee
• Other Roentgenographic abnormalities
Multiple foci of ossification (epiphyseal dysgenesis).
Breaking of T12 / L1,2.
Wormian bones.
Large, round sella turcica.
• I125 - Sodium iodide thyroid scan .
• ECG Low voltage P wave, QRS and T wave.
Prognosis :
• Early diagnosis and treatment. Excellent prognosis.
• If onset after 2 years of age, outlook for normal development much better
Treatment :
• L - Thyroxine - 10 - 15 µg/ kg / day (newborn) Child - 4µg / kg / day.
• Adult - 2µg / kg / day. Confirmatory test at 3 yrs.
Acquired Hypothyroidism :
• Most common cause - lymphocytic thyroiditis (as early as 2yr).
104 | Paediatrics
Concept 6.2: Thyroiditis
Learning Objective: To understand the basics of thyroiditis and management
Time Needed
1st Reading 20 mins
2 Look
nd
05 mins
II. Thyroiditis :
Hashimoto’s Thyroiditis :
• Most common cause of thyroid disease in children & adolescent.
• Auto immune.
• Thyroid anti peroxidase antibodies (antimicrosomal antibody) - 90%. Antithyroglobulin
antibody – 50%.
Thyrotropin receptor - blocking antibody (TRB Ab) - hypothyroidism.
C/F :
• More common after 6 yrs and peak in adolescence.
• Growth retardation and goiter (most common).
• Euthyroidism / hypothyroidism / hyperthyroidism.
• Ophthalmology in absence of Grave’s disease.
Associations :
• Pernicious anemia, vitiligo, alopecia, DM, congenital rubella, Down’s and Turner’s
syndrome.
Diagnosis :
• Thyroid Biopsy- most definitive procedure.
• Thyroid Scan - Irregular patchy uptake in 60%.
Treatment :
• L - Thyroxine for hypothyroid.
• Periodic revaluation for need for continued therapy.
Endocrinology | 105
Concept 6.3: CAH*** [very important]
Learning Objective: To understand the basics of CAH and management
Time Needed
1st Reading 20 mins
2 Look
nd
05 mins
Fig.6.1: Adrenal cortical hormone biosynthesis and relation with enzyme deficiencies
III. Congenital Adrenal Hyperplasia:

Etiology :
• Deficiency of 21 - hydroxylase 95%: Most common.
• Deficiency of 11β hydroxylase 5 - 8%: 2nd most common.
• Deficiency of 3β hydroxysteroid dehydrogenase < 5%.
106 | Paediatrics
Non Salt Losing Type (25%) :
Male :
• Premature isosexual development.
• Adult stature shunted.
• BA >> CA.
• Testes prepubertal in size.
• Mental development normal.
Female :
• Female pseudo hermaphroditism.
• Clotoromegaly and urogenital sinus.
• Breast deveopment and menstruation do not occur.
Salt Losing Type 75% :

• Failure to thrive.
• Dehydration.
• Vomiting.
Diagnosis :
• S. electrolyte: hyponatremia, hyperkalemia.
• Elevated plasma renin.
• Elevated Serum level of 17 – hydroxyprogesterone: screening test.
• ↑ urinary 17 - ketosteroids.
Prenatal diagnosis :
T1 - Chorionic villous biopsy
• HLA Typing
• DNA analysis
T2 - 17 - OHP level in amniotic fluid
• HLA Typing
• DNA analysis
• Dexamethasone is used for prenatal treatment.
Treatment :
• Hydrocortisone 10 - 20mg / m2 / 24hr is recommended in all cases.
• Fludricortisone added only in salt losing varieties.
• Points to remember: Salt losing varieties (present with shock, hyponatremia and
hyperkalemia) are 21-hydroxylase, 3 beta hydroxy steroid deficiency.
• Saltretaining varieties (present with hyper tension, hypernatremia & hypokalemia)
are 11-beta & 17 alpha hydroxylase deficiency.
Endocrinology | 107
Extra edge (Table from Nelson 20th Ed)
Disorder Affected Gene Signs And Laboratory Therapeutic
And Chromosome Symptoms Findings Measures
21-Hydroxylase CYP21 6p21.3 Glucocorticoid ↓ Cortisol, Glucocorticoid
deficiency, classic deficiency ↑ ACTH ↑↑ (hydrocortisone)
form Baseline and replacement
ACTH-stimulated
17-hydroxy-
progesterone
Mineralocorticoid Hyponatremia, Mineralocorticoid
deficiency (salt- hyperkalemia ↑ (fludrocortisone)
wasting crisis) Plasma renin replacement,
sodium chloride
supplementation
Ambiguous ↑ Serum androgens Vaginoplasty and
genitalla in clitoral recession
females
Postnatal ↑ Serum androgens Suppression with
virilization in glucocorticoids
males and females
21-Hydroxylase CYP21 6p21.3 May be ↑ Baseline and Suppression with
deficiency, asymptomatic, ACTH-stimulated glucocorticoids
nonclassic form precocious 17-hydroxy-
adrenarche, progesterone ↑
hirsutism, Serum androgens
acne, menstrual
irregularity,
infertility
11β-Hydroxylase CYP11B1 8q24.3 Glucocorticoid ↓ Cortisol, ↑ Glucocorticoid
deficiency deficiency ACTH (hydrocortisone)
replacement
↑↑ Baseline and
ACTH-stimulated
11-deoxycortised
and deoxycorti-
costerone
Ambiguous ↑ Serum androgens Vaginoplasty and
genitalia in clitoral recession
females
Postnatal ↑ Serum androgens Suppression with
viritzation in males glucocorticoids
and females
Hypertension ↓ Plasma renin, Suppression with
hypokalemia glucocorticoids
108 | Paediatrics
3β- HSD3B2 Glucocorticoid ↓ Cortisol, Glucocorticoid

Hydroxysteroid 1p13.1 deficiency ↑ ACTH ↑↑ (hydrocortisone)
dehydrogenase Baseline and replacement
Deficiency, classic ACTH- stimulated
from 5 steroids
(pregnenolone,
17-hydroxy-
pregnenolone,
DHEA)
Mineralocorticoid Hyponatremia, Mineralocorticoid
deficiency (salt- hyperkalemia ↑ (fludrocortisone)
wasting crisis) Plasma renin replacement
sodium chloride
supplementation
Ambiguous ↑ DHEA, ↓ Surgical correction
genitalia in androstenedione, of genitals and
females and males testosterone, and sex hormone
estradiol replacement as
necessary,
consonant with sex
of rearing
Precocious ↑ DHEA, ↓ Suppression with
adrenarche, androstenedione, glucocorticoids
disordered puberty testosterone, and
estradiol
17 α-Hydroxylase/ CYP17 10q24.3 Cortisol deficiency ↓ Cortisol, ↑ Glucocorticoid
17, 20-lyase (corticosterone ACTH ↑ DOC, (hydrocortisone)
deficiency is an adequate corticosterone Low administration
glucocorticoid) 17 α-hydroxylated
steroids; poor
response to ACTH
Ambiguous ↓ Serum Orchidopexy
genitalia in males androgens; poor or removal of
response to hCG intraabdominal
testes; sex
hormone
replacement
consonant with sex
of rearing
Sexual infantilism ↓ Serum androgens Sex hormone
or estrogens replacement
consonant with sex
of rearing
Hypertension ↓ Plasma renin; Suppression with
hypokalemia glucocorticoids
Endocrinology | 109
Concept 6.4: Cushing syndrome
Learning Objective: To understand the basics of cushing syndrome and management
Time Needed
1st Reading 20 mins
2 Look
nd
10 mins
IV. Cushing Syndrome:

Etiology :
• Functioning adrenocortical tumor - 85% in children < 7yr.
• Primary pigmented nodular adrenocortical disease - ACTH independent.
• Bilateral adrenal hyperplasia > 7yr, ACTH dependent.
In 20% - basophilic adenoma of pituitary.
C/F :
Can begin in infancy
• Moon facies.
• Double chin.
• Buffalo hump.
• Signs of abnormal masculinisation.
• Short stature.
• Hypertension.
• Susceptibility to sepsis.
Diagnosis :
• Blood:
CBC.
GTT.
S. electrolyte.
S. cortisol level (diurnal variation lost).
↑ urinary free cortisol level.
Dexamethasone suppression test.
• CRH Stimulation test.
• CT Scan abdomen.
• MRI brain for ACTH secreting pituitary adenoma.
Treatment :
• Benign cortical adenoma - Unilateral adrenalectomy.
• Pituitary adenoma transsphenoidal pituitary microsurgery.
110 | Paediatrics
Concept 6.5: Precocious puberty
Learning Objective: To understand the basics of precocious puberty
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
V. Precocious Puberty :
• <8 yr in girls.
• <9 yr in boys.
Gonadotropin dependent puberty (True precocious puberty)
• Idiopathic (constitutional , functional)
• Organic brain lesions
Hypothalamic hamartoma
Brain tumors, hydrocephalus, severe head trauma
• Hypothyroidism, prolonged, untreated
Central (gonadotropin-dependent) precocious puberty

Etiology Clinical features Bone age Additional evaluation
Idiopathic Early progressive pubertal ↑↑ Increased ovarian and uterine

(80 to 90% of girls with CPP development, but proceeds in volumes on ultrasound
and 25 to 60% of boys with normal sequence. may help differentiate girls
CPP) with CPP from those with
premature thelarche.
Secondary to CNS lesions Early progressive pubertal ↑↑ Contrast-enhanced MRI to
(eg, hypothalamic development that usually rule out CNS abnormality.
hamartomas, other CNS proceeds in normal sequence,
tumors and lesions, cranial but abnormal tempo or
radiation) sequence can be seen with
CNS lesions.
CPP secondary to a CNS
lesion occurs more commonly
in boys and younger children.
Post-early exposure to sex History of treatment of ↑↑ Basal and stimulated LH

steroids peripheral precocity. concentrations are pubertal.
(after treatment for peripheral Progressive pubertal
precocity) development with breast
development in girls and
testicular enlargement in
boys.
Endocrinology | 111
Continued gonadotropin dependent and gonadotropin independent
puberty
• Treated congenital adrenal hyperplasia
• Mc Cune Albright Syndrome Gonadotropin independent puberty (precocious
pseudopuberty).
• Mc Cune Albright Syndrome.
• Autonomous ovarian cysts.
• Ovarian tumor.
• Congenital adrenal hyperplasia.
• Leydig cell tumor.
• hCG secreting tumor.
Mc - Cune Albright Syndrome

Etiology Clinical features Bone age Additional evaluation
Girls only
Ovarian cysts Breast development and/ ↑ to ↑↑ Pelvic ultrasound may
or vaginal bleeding. visualize the cyst, although
Occasionally presents with in some cases, the cyst may
ovarian torsion and abdominal have involuted by the time of
pain. the study. Vaginal bleeding
is indicative of estrogen
withdrawal. Recurrent
ovarian cysts suggest
McCune-Albright syndrome.
Ovarian tumor Development of either ↑↑ Pelvic ultrasound
isosexual or contrasexual
sexual precocity, depending
of tumor type.
Boys only
Leydig cell tumor Asymmetrical enlargement of ↑↑ Pubertal testosterone
the testes. concentrations. Testicular
ultrasound aids in diagnosis.
hCG-secreting germ-cell Symmetric testicular ↑↑ These tumors may occur
tumors enlargement to an early in gonads, brain, liver,
pubertal size, but testes retroperitoneum, or
remain smaller than expected mediastinum.
for degree of pubertal When a tumor is identified in
development. the anterior mediastinum, a
Peripheral precocity is seen karyotype must be performed
only in boys because hCG because of an association of
only activates LH receptors this finding with Klinefelter
(estrogen biosynthesis in the syndrome.
ovaries requires both FSH and
LH receptor activation).
112 | Paediatrics
Familial male-limited Symmetric testicular ↑↑ Genetic testing for mutations

precocious puberty enlargement to an early of the LH receptor gene.
pubertal size, but testes
remain smaller than
expected for degree of
pubertal development;
spermatogenesis may occur.
Familial – Male-limited
autosomal dominant trait.
Peripheral precocity is seen
only in boys because there
is only activation of the LH
receptors (ovarian estrogen
biosynthesis requires both
FSH and LH receptor
activation).
Girls and boys
Exogenous sex steroids Estrogen preparations cause ↑ to ↑↑ Clinical history explores use
(estradiol and testosterone feminization, while topical of exogenous sex steroids and
creams) and endocrine androgens cause virilization folk remedies by caregivers
disrupting chemicals in both sexes. and exposure to endocrine
disrupting chemicals.
McCune-Albright syndrome In girls, may present with ↑ to ↑↑ Ultrasound – Ovaries
(girls>boys) recurrent episodes of breast enlarged, with follicular cysts.
development, regression, In boys, testicular ultrasound
and vaginal bleeding. In can demonstrate hyper- and
boys, sexual precocity is less hypoechoic lesions (most
common. likely representing areas of
Skin – Multiple irregular- Leydig cell hyperplasia),
edged café-au-lait spots. microlithiasis, and focal
Bone – Polyostotic fibrous calcifications.
dysplasia. May have other hyperactive
endocrine disorders, ie,
thyrotoxicosis, glucocorticoid
excess, and/or gigantism.
Primary hypothyroidism Girls – Vaginal bleeding, ↓ Elevated TSH.
breast development, and
galactorrhea.
Boys – Testicular
enlargement.
Other clinical features of
hypothyroidism such as short
stature.
Endocrinology | 113
Congenital adrenal Boys have prepubertal testes ↑↑ Sex hormone levels vary
hyperplasia with enlarged phallus and depending on the adrenal
(untreated) pubic hair development. Girls enzyme block. An early-
with nonclassic congenital morning 17-OHP >200 ng/
adrenal hyperplasia may dL (>6 nmol/L) has a high
present with early pubic and/ sensitivity and specificity
or axillary hair and other signs for congenital adrenal
of androgen excess. hyperplasia secondary to
21-hydroxylase deficiency,
but an ACTH stimulation
test is still recommended to
confirm the diagnosis for 17-
OHP concentrations between
200 and 1500 ng/dL (6 to 45
nmol/L). After therapy with
glucocorticoids, CPP may
develop.
Virilizing adrenal tumor Boys – Pubic and/or axillary ↑↑ High DHEA or DHEAS,
hair and penile growth with androstenedione and
prepubertal testes. testosterone.
Girls – Pubic and/or axillary CT and/or ultrasound of
hair, other significant signs adrenal glands to locate
of androgen excess (acne and tumor.
clitoromegaly).
May present with signs of
glucocorticoid excess.
May be associated with
hereditary cancer syndromes.
Cause: Activating mutation in GNS-1 gene, coding for alpha subunit of the stimulatory G protein
• Precocious puberty.
• Polyostotic fibrous dysplasia.
• Abnormal cutaneous pigmentation: ‘café-au-lait’ spots with rough borders.
Peripheral precocity (gonadotropin-independent precocious puberty)

Peripheral precocity is characterized by low or suppressed gonadotropin concentrations
with elevated sex hormone levels. Pubertal status should be monitored for 6 months
after treatment because treatment of peripheral precocity can trigger CPP.
↑: advanced for chronologic age; ↓: delayed for chronologic age; hCG: human chorionic
gonadotropin; LH: luteinizing hormone; FSH: follicle-stimulating hormone; TSH: thyroid-
stimulating hormone; 17-OHP: 17-hydroxyprogesterone; ACTH: adrenocorticotropic
hormone; CPP: central precocious puberty; DHEA: dehydroepiandrosterone; DHEAS:
dehydroepiandrosterone sulfate; CT: computed tomography.
114 | Paediatrics
Concept 6.6: GH deficiency
Learning Objective: To understand the basics of GH deficiency in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
VI. Growth Hormone Deficiency:

Etiology :
• Pituitary hypoplasia.
• Destructive lesions.
Craniopharyngioma.
Histiocytosis.
Cranial irradiation.
• Idiopathic.
• Genetic.
• Growth Hormone Receptor Defects.
C/F :
• Birth length 1SD below mean.
• Fall more than 4SD below mean by 1yr.
• Congenital defect in pituitary - apnea, cyanosis, severe hypoglycemia and microphallus.
• Prolonged neonatal jaundice.
• Proportional dwarfism.
• Delayed sexual maturation.
• Normal intelligence.
Diagnosis :
• Peak GH level below 7µg / L after provocation with L - Dopa, clonidine, insulin,
glucagon or20 - min strenuous exercise.
• 3 days priming with estrogen may be used for greater specificity.
• Spontaneous secretion of GIT every 20 min for 12hr / 24hr duration.
• TSH, ACTH, gonadotropin levels must be evaluated.
• X Ray of skull.
• MRI.
• CA > BA.
Treatment :
• hGH - 0.18 - 0.3mg / kg / wk Subcutaneously ; continuous therapy till there is no
further response.
• Maximal response in 1st yr.
Risks :
• Leukemia, pseudotumor cerebri, slipped capital femoral epiphysis, worsening of
Scoliosis, reversible hypothyroidism.
Endocrinology | 115
Concept 6.7: Ambiguous genitalia
Learning Objective: To understand the basics of ambiguous genitalia in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
VII. Ambiguous Genitalia :

1. Phallus but b/l unpalpable testes.
2. Unilateral cryptorchidism and hypospadias.
3. Penoscrotal / perineoscrotal hypospadias even if testes are descended.
normal male infant - phallus 2.5cm in length.
normal FT female infant clitoris < 1cm and no post. labial fusion.
Female pseudohermaphroditism:
• Genotype XX with ovaries with male external genitalia.
Congenital adrenal hyperplasia Most common cause.
• 21 hydroxylase & 11 hydroxylase defect.
• Salt losers have greater tendency to virilization.
Masculinizing Maternal Tumors :

• Administration of Androgenic drugs to women during pregnancy.
Male pseudohermaphroditism :
• Genotype XY, external genitalia incompletely virilized, ambiguous or completely
female.
Defects in Testicular differentiation :

• Denys - Drash Syndrome.
• WAGR Syndrome.
• Sweyr Syndrome (due to testicular regression before 8th fetal week).
Defects in Testicular Hormones :

• 20, 22 Desmolase deficiency.
• 3β hydroxysteroid dehydrogenase deficiency.
• Deficiency of 17 Hydroxylase / 17, 20 lyase.
• Deficiency of 17 - Keto steroid reductase.
Defects in Androgen action :

• 5α reductase deficiency.
116 | Paediatrics
Concept 6.8: Diabetes Insipidus
Learning Objective: To understand the basics of DI in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
VIII. Diabetes Insipidus

A. Central :
Etiology :
• Craniopharyngioma.
• Optic glioma.
• Germinoma.
• Genetic (Autosomal dominant).
• Histiocytosis.
• Woltram Syndrome (DIDMOD).
C/F :
• Polyuria.
• Polydipsia.
• Hyperthermia, rapid wt. loss & collapse
• Skin dry & pale.
• Secondary enuresis.
• Anorexia with preference for carbohydrates.
Diagnosis :
• Urine analysis - S.G - 1.001 to 1.005 .
• Osmolality 50 - 200 mosm / kg H2O.
• KFT.
• Radioimmuno assay for ADH - <0.5pg/ml.
• Xray Skull.
• MRI.
Treatment :
• Desmopressin (by nasal route)
B. Nephrogenic :
Etiology :
X linked recessive. Also associated with disorders that.
1. Result in loss of medullary concentrating gradient (ARF / CRF, VUR, obstructive
uropathy, nephrocalcinosis).
Endocrinology | 117
2. Diminish the effect of ADH on tubules. (hypokalemia, hypercalcemia, Lithium,
amphotericin B and demeclocycline therapy).
C/F :
• Polyuria, polydipsia - hypernatremic dehydration.
Diagnosis :
• Serum osmolality - > 295 mosm / kg.
• Urine osmolality -
Inj Vasopressin 0.1 - 0.2 u / kg i.m.
Serial measurement 1 hourly x 4
Urine : plasma osmolality < 1 - Nephrogenic DI.
Treatment :
• Low sodium formula (Similac 60/40) with water supplementation.
• Chlorothiazide with moderate salt restriction.
118 | Paediatrics
Worksheet
• MCQ OF “ENDOCRINE SYSTEM” FROM DQB

7 Infections
CONCEPTS
Â Concept: 7.1 Measles
Â Concept: 7.2 Rubella
Â Concept: 7.3 Mumps
Â Concept: 7.4 Varicella Zoster
Â Concept: 7.5 AIDS
Â Concept: 7.6 Typhoid
Â Concept: 7.7 Histiocytosis
120 | Paediatrics
Concept 7.1: Measles
Learning Objective: To understand the basic concepts of Measles
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
I. Measles (Rubeola)
Etiology:
• RNA virus of family paramyxoviridae.
• Found in nasopharyngeal secretions, blood, urine.
• Maximal infectivity - catarrhal stage.
• Infected person becomes contagious by 9th - 10th day after exposure (begining
ofprodromal phase).
• Isolation from 7th day after exposure to 5days after rash has appeared.
• Carriers are not known to occur.
Epidemiology :
• SAR : 90%.
• Rarely subclinical.
• Peak age - 6m - 3yrs in developing countries.
5 - 10yrs in developed countries.
• 400 times higher mortality in malnourished child.
• Single attack confers life long immunity.
• Epidemics in India between January - April.
Why is Measles Eradicable ?
a) Distinctive rash.
b) No animal reservoir.
c) No vector.
d) Seasonal occurrence with disease free period.
e) No transmissible latent virus.
f) One serotype.
g) Effective vaccine.
Routine immunization coverage > 90% - disease free zone.
Transplacentally acquired immunity lasts 4 - 6 months and disappears at a variable
rate.
Clinical Features :
• I.P. : 10 -12 days to onset of prodromal symptoms & 14 day to onset of rash Prodromal
phase: 3 - 5days.
Infections | 121
• Fever, hacking cough, coryza, conjunctivitis.
• Koplik’s spots: Grayish white dots as small as grains of sand, with slight, reddish
areolae, occasionally hemorrhagic. Opposite the lower molars appear & disappear
rapidly usually within 12 -18hrs. As they fade, red spotty discoloration of mucosa
may remain.
Fig.7.1
• Transverse line of conjunctival inflammation sharply demarcated along eyelid margin.

• Red mottling on hard palate.
• Temperature rises with appearance of rash.
• Rash starts as faint macules on upper lateral parts of neck, behind the ears, along the
hairline and on posterior parts of cheek. Spreads as maculopapular rash to the lower
parts of body over next 2 - 3 days - starts fading from face.
• Severity of disease is related directly to the extent & confluence of rash.
• Rash is usually slightly hemorrhagic.
• As rash fades, branny desquamation and brownish discoloration occur and then
disappears within 7 - 10days.
• Complete absence of rash (ATYPICAL MEASLES) patients is seen in who have received
human antibodies during IP, HIV patients and infants < 8m with appreciable levels
ofmaternal antibody.
• In hemorrhagic measles (black measles) blushing from nose, mouth or bowel.
• Lymph nodes at angle of jaw & posterior cervical region usually enlarged &
splenomegaly noted.
• Mesenteric LAP : Abdominal pain.
• Appendicitis.
• Liver involvement - ↑ AST, occasionally jaundice more common in adults.
• (D/d : Roseola infantum (exanthem subitum) - rash appears as fever disappears.
Etiology :
• HHV – 6, PV 3 =- 19 , Echo V – 19.
• Age 6 months to 3 years mainly.
122 | Paediatrics
• I.P. 5 – 15 days.
• Onset abrupt with high grade fever & mild pharyngitis.
• Child is non toxic. Temperature comes down rapidly).
Complications of measles :
• Otitis media: Most common complication.
• Pneumonia: Interstitial type. Cause of death in most cases.
• Measles pneumonia in HIV patients is often fatal & without rash.
• Bronchopneumonia due to secondary bacterial infection - Pneumococcus,
Streptococcus, Staphylococcus & H. influenzae.
• Exacerbation of existing tuberculous process - temporary loss of hypersensitivity to
tuberculin.
• Diarrhea seen in post-measles patients.
• Exacerbation of malnutrition. Neurologic :-Encephalomyelitis 1 - 2 / 1000 reported
caseNo correlation b/w the severity of the measles and neurologic involvement or b/w
severity of the initial encephalitic process & prognosis.
• SSPE: rare manifestation but has high mortality. Cognitive impairment with myoclonus
seen.
Prophylaxis :
Active Immunization :
• Live attenuated tissue culture vaccine (Edmonston - Zagreb strain).
• 9 months.
• As sero-conversion rate is not 100%, booster with MMR.
• Anergy to tuberculin may develop & persist for 1m or longer after administration of
vaccine.
• C/I :
Pregnant women.
Untreated tuberculosis.
Leukemia.
Immunosuppresant drugs.
Passive Immunization :
• Human measles immune globulin 0.25 ml / kg given i.m. within 5 days after exposure.
• Encephalitis may follow measles modified by gamma globulin.
Treatment :
• Sedatives.
• Antipyretics.
• Bed rest.
• Protect from light during period of photophobia.
Treatment with oral vitamin A (400, 000 IU) reduces morbidity & mortality.
Infections | 123
Concept 7.2: Rubella
Learning Objective: To understand the basic concepts of Rubella
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
II. Rubella (German or 3 day measles):

Etiology:
• RNA virus (Togaviridae)
• Present in nasopharyngeal secretions, blood, faeces and urine during infective period.
Epidemiology :
• Droplet infection / transplacentally.
• Peak incidence 5 -14 yrs of age.
• Ratio of in apparent to overt disease = 2 : 1.
• Peak incidence in spring.
• A single attack confers permanent immunity.
Clinical Features :
• Incubation period = 2 - 3 weeks.
• Most characteristic feature is retro auricular, posterior cervical and post
occipitaladenopathy.
• Exanthem may appear just before the onset of skin rash - discrete rose spots on the
soft palate.
• LAP appears 24 hrs before rash and remains for 1 week.
• Confluent rash appears on the face and spreads quickly.
• The rash appears pinpoint by 2nd day especially over the trunk.
• Eruption clears by 3rd day.
• Desquamation is minimal.
• Rubella without rash has been described.
• Fever is slight / absent during the rash.
• Slight splenomegaly.
• WBC count normal or slightly reduced.
• In girls & women polyarthritis may occur with arthralgia, swelling, tenderness, effusion
without residuum. Small joints of hand are most frequently affected. Duration - upto
2 weeks.
Complications :
• Neuritis.
• Arthritis.
• Encephalitis - 70% end up with residual neuromotor deficits including autistic
syndrome.
124 | Paediatrics
Prevention :
Passive Immunity : Immune serum globulin (ISG) 0.25 - 0.5 ml/kg within first 7 - 8
days after exposure. Efficacy unpredictable . Indicated only in non immune pregnant
women.
Active Immunity : Live virus RA 27 / 3 (human embryonic lung fibroblasts of the WI
- 38 line).
• Produces naso pharyngeal antibody and a wide variety of serum antibodies, provides
better protection against reinfection.
• Stored at 4° C and used as soon as it is reconstituted.
• Administered as a single subcutaneous injection.
• Duration of immunity - life long.
• Given at 15 months as MMR vaccine.
• Avoid pregnancy for 3 months after immunization.
C/I :
• Pregnancy.
• Immune deficiency.
• Severe febrile illness.
• Hypersensitivity.
• Antimetabolite / Steroid therapy.
Management of Pregnant women exposed to Rubella :

• Risk of damage to the fetus decreases after 14th week of gestation
• Pregnant women with ? immunization status exposed to rubella
• Perform antibody test - ASAP
↓
Antibody negative
↓
Abortion unacceptable Abortion available & acceptable

↓ ↓
Give ISG If antibody +ve
↓
Abort fetus
Infections | 125
Concept 7.3: Mumps
Learning Objective: To understand the basic concepts of Mumps
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
III. Mumps :
Etiology: Paramyxoviridae
Epidemiology :
• 85% infection occur in children < 15 yrs
• Seasonal incidence : Late winter & early spring.
• 30 - 40% infection are subclinical.
• Virus transmission does not occur longer than 24 hours before appearance of the
swelling or later than 3 days after it has subsided.
• Transplacental antibodies effective in protecting infants upto 6 - 8 months.
• Infants born to mothers who have mumps in the weeks prior to delivery may have
mumpsatbirth / in the neonatal period . Severity ranges from mild parotitis to severe
pancreatitis.
C/F : Incubation period 2 - 3 weeks.
Prodrome : Fever, muscular pain, headache, malaise.
• Swelling of parotid glands : peak within 1 - 3 days.
• Swelling subsides within 3 - 7 days.
• Swelling limited to one gland is common
• Parotid swelling is usually accompanied by moderate fever; normal temperatures are
common.
• Swelling of submandibular glands usually follow that of parotid gland.
• Least commonly sublingual glands are affected usually bilateral.
Complications :
1. Meningoencephalomyelitis: Most frequent complication.
Clinical infection 10%.
Subclinical evidence in 65%.
Mortality rate is 2% (approx).
Mumps is the most common cause of Aseptic meningitis in children.
2. Orchitis, Epididymitis :
Common in adolescents & adults.
Testis is most often affected with / without epididymitis.
Orchitis usually follows parotitis within 8days / so.
Approximately 30 - 40% of affected testis atrophy.
Impairment of fertility is 13% (approx).
126 | Paediatrics
3. Oophoritis: 7% of post pubertal females.
4. Pancreatitis: Mild / subclinical infection may be common than is recognised
Elevated serum amylase value is characteristically present with mumps.
5. Nephritis.
6. Thyroiditis.
7. Myocarditis.
8. Deafness : (1 : 15,000).
Mumps is the leading cause of U/L nerve deafness.
Prophylaxis :
Active : Vaccine induces antibody in about 96% of sero-negative recipients and has a
protective efficacy of about 97% against natural mumps.
Infections | 127
Concept 7.4: Varicella Zoster
Learning Objective: To understand the basic concepts of Varicella Zoster
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
IV. Varicella Zoster (Chicken Pox) :

Etiology :
Human herpes virus - ds DNA.
Pathology :
• Virus transferred in respiratory secretions or by direct contact with skin lesions of
varicella / herpes zoster.
• I.P. = 10 - 21 days.
• Visceral dissemination results in spread to Lungs, Liver, Brain & Other organs.
• Virus becomes latent in dorsal root ganglia in all individuals who experience primary
infection.
• Its reactivation causes localised vesicular rash that usually involve the dermatomal
distribution of a single sensory nerve (HERPES ZOSTER).
Epidemiology :
• Annual epidemics in winter & spring.
• Household transmission rates 80 - 90%.
• Contagious from 24 - 48 hrs before the rash appears and while uncrusted vesicles
arepresent.
• Herpes zoster is very rare in children < 10 yrs except those given immunosuppresants,
having HIV and those who have been injected inutero / during first year of life.
C/F :
• Prodromal symptoms : Fever, malaise, anorexia, headache24 - 48 hours before rash
appears.
• Fever & other systemic symptoms persist 2 - 4 days after onset of rash.
• Lesions first appear on the scalp, face or trunk.
• Initial exanthem consists of intensely pruritic erythematous macules that evolve to
form clear, fluid filled vesicles.
• Clouding & umblication begin in 24 - 48 hrs.
• While the initial lesions are crusting, new crops form on the trunk and then
theextremities.
• Simultaneous presence of lesions in various stages of evolution are characteristic of
Varicella.
• Ulcerative lesions involving oropharynx, vagina & vesicular lesions on eyelids common.
• Hypopigmentation may be seen for some time, scarring is uncommon.
128 | Paediatrics
Complications :
1. Secondary bacterial infections - Staph. aureus / Strep. pyogenes - pneumonia,
arthritis, osteomyelitis Varicella gang- renosa is a rare but potentially life threatening
consequence of secondary infections.
2. Encephalitis & cerebellar ataxia.
3. Varicella hepatitis.
4. Varicella pneumonia.
5. Hemorrhage into the cutaneous lesions is a sign of severe varicella in high risk
patients.
6. Maternal varicella results in congenital varicella syndrome.
Laboratory Diagnosis:
• Leukopenia typical during first 72 hours followed by relative and absolute lymphocytosis.
• LFT moderately elevated.
• Rapid lab. diagnosis by direct immuno- histochemical staining of cells from cutaneous
lesions.
• Definitive diagnosis - recovery of infectious virus using tissue culture.
• Treatment : Acyclovir is the drug of choice.
Indications :
• Disseminated VZV.
• Immunodeficiency.
• Steroid therapy.
• Neonatal varicella.
Prevention :
Passive : VZIG for immunocompromised children, pregnant women & newborn infants
exposed to maternal varicella.
Dosage :
• 1 vial per 10kg i.m. within 96 hours (if possible within 48hrs) after exposure.
• Does not eliminate possibility of progressive disease.
Active :
• Live, attenuated made from Oka strain - first human herpes virus vaccine.
• Vaccine induced seroconversion rates of more than 95% with complete protection
against disease in 85 - 95% of exposures.
Dosage : 1 - 12yrs : single dose S.C.
13 yrs : 2 doses 6 - 10 wks apart.
Contraindications :
• Acute severe febrille illness.
• TLC < 1200 / mm3.
• Systemic hypersensitivity to neomycin.
• Pregnancy.
Infections | 129
Concept 7.5: AIDS
Learning Objective: To understand the basic concepts of AIDS
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
V. Pediatric AIDS :
Etiology:
• HIV type I.
• Predominantly infects CD4+ T- lymphocytes.
• Max. cases : 2m - 3yrs.
Epidemiology :
At risk infants.
a) Infants born to infected mothers (most common cause).
b) Patients given HIV - 1 contaminated blood products.
c) Adolescents who acquire the infection sexually or by iv route.
Fifth leading cause of death in children < 15yrs.
Pathogen and Pathogenesis:
• HIV - human retrovirus belonging to lentivirinae family.
• Virion capsid contains 2 copies of SS RNA andfew molecules of reverse transcriptase.
• Intercurrent infections that stimulate T or B lymphocytes such as P. carinii, malaria
&measles cause rapid ↑ in viral load.
• Major external viral proteins - gp120 associated with transmembrane glycoprotein
gp41E - V. immunogenic & used to detect HIV - 1 antibodies in diagnostic assays.
• Max. transmission takes place during Lab or &delivery (minimal difference in
transmission rates b/w caesarean and vaginal deliveries).
• < 50% of HIV - 1 - infected infants positive for the virus at birth.
• By 2 - 3 months almost all infants have detectable HIV - 1 in peripheral blood.
• Outcomes:
Marked decrease in CD4+.
Lymphoreticular response.
T - lymphocytes - Hepatospleno- megaly,
Severe infection lymphadenopathy, lymphoid, interstitial pneumonitis b/w 1-2yr.
Perinatal transmission 30% (approx).
Clinical Features :
• Diarrhea ( ≥ 1 month ).
• Oral candidiasis.
130 | Paediatrics
• Decreased growth velocity.
• Severe life threatening bacterial infections. (Salmonella / Strep. pneumoniae)
• Lymphoid interstitial pneumonitis – reticulo-nodular pulmonary infiltrate that persist
for 2m or more with /without hilar adenopathy & do not respond to antibiotics.
Most common clinical presentation in children.
Good prognosis.
• AIDS - defining “ opportunistic infection
P. carinii pneumonia (PCP) - mortality > 70%.
(c.f. PCP reactivation in adults).
Esophagitis secondary to candida albicans.
Toxoplasma gondii CNS infection.
Mycobacterium avium complex.
Malaria.
Neoplasms uncommon in pediatric HIV - 1 patients.
Lab. Diagnosis :
• Anemia, Neutropenia, thrombocytopenia
• HIV antibodies can be detected by commercial ELISA / WB at 6m.
• In some cases it may be necessary to wait until 15 - 18months age to identify an HIV
– 1. exposed, clinically well infant as uninfected by serologic tests.
• Most sensitive test - PCR >Alternative is p24 protein assay.
Nelson 20th Edition Table on diagnosis of HIV infection in children:

Test Comment
HIV DNA PCR Preferred test to diagnose HIV-1 subtype B Infection in infants and children younger than
18 mo of age; highly sensitive and specific by 2 wk of age and available; performed on
peripheral blood mononuclear cells. False negatives can occur in non-B subtype HIV-1
infections
HIV culture Expensive, not easily available, requires up to 4 wk to do test; not recommended
HIV RNA PCR Preferred test to identify non-B subtype HIV-1 Infections. Similar sensitivity and
specificity to HIV DNA PCR in infants and children younger than 18 mo of age, but DNA
PCR is generally preferred because of greater clinical experience with that assay.
Prognostic factors :
1. Age at initial clinical presentation.
2. CD4+ count.
Treatment :
• Zidovudine.
• Dideoxyinosine.
Reduce HIV - 1 load significantly and are associated with increased CD4+ lymphocyte
counts and clinical improvement.
Infections | 131
Side effects :
Macrocytic anemia - Zidovudine. Pancreatitis - ddI.
Prevention :
• Zidovudine in HIV - 1 (+) women from 14th week of gestation through labor and
delivery and for 6 week in neonates- reduces transmission.
• If mother is HIV - 1(+) & did not receive Zidovudine, start Zidovudine as soon as
possible after birth (No efficacy after 24 hour).
132 | Paediatrics
Concept 7.6: Typhoid
Learning Objective: To understand the basic concepts of Typhoid
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
VI. Typhoid (Enteric Fever)

Etiology:
• S. typhi.
• S. paratyphi A.
• S. paratyphi B.
• S. paratyphi C.
Epidemiology :
• Man only reservoir.
• Most common mode of transmission - ingestion of foods / water contaminated
withhuman faeces.
• Congenital transmission - transplacental infection from a bacteremic mother to
herfetus.
• Intrapartum transmission - feco oral route from a carrier mother.
Pathology :
• Hyperplasia of Peyer’s patches with necrosis & sloughing of overlying epithelium
(ulcer).
• Ulcers heal without scarring.
• Hemorrhages & perforation may occur.
• Mesenteric lymph nodes, liver & spleen are hyperemic.
• Hyperplasia of reticuloendothelial tissue with proliferation of mononuclear cells is
predominant finding.
• Bronchitis is common.
• Also seen are localised abscesses, pneumonia, septic arthritis, osteomyelitis,
endophthalmitis & meningitis.
Pathogenesis :
• Gall bladder is particularly susceptible to being infected from the blood stream /
through the biliary system.
• Surface VI capsular antigen is found in most S.typhi - interferes with phagocytosis
by preventing the binding of C3 to the surface of the bacterium & correlates with
invasion capability.
• Circulating endotoxin, a lipopolysaccharide component of the bacterial cell wall is
thought to cause the prolonged fever and toxic symptoms
• Cell mediated immunity is important in protecting against typhoid fever.
Infections | 133
C/F :
• I.P.: 7 - 14 days (3 -30 days).
• Fever, anorexia, malaise, myalgia, headache, abdominal pain.
• Diarrhea with Pea - soup consistency rare.
• Constipation more common.
• Nausea & vomiting are uncommon - in 2nd / 3rd week suggest complication.
• Step. ladder fever, unremittent & high.
• Relative bradycardia, hepatomegaly, splenomegaly, distended abdomen.
• Macular (rosespots) or maculopapular rash appears in 50% pts on about 7th –
10thday.Appear in crops on chest and lower abdomen and last 2 - 3 days.
• Leave a slight brownish discoloration of skin on healing.
• Neonatal disease begins within 3 days of delivery and present with fever,
seizures,vomiting, diarrhea, hepatomegaly, jaundice.
Laboratory Diagnosis :
• Nomocytic, normochromic anemia.
• Leukopenia.
• Thrombocytopenia.
• Blood culture positive in 1st week (40-60%).
• S. widal positive after 2nd week.
• Stool & urine cultures become +ve after 1st week.
Most sensitive test: Culture of bone marrow (+ve in 85 - 90%) and is less influenced
by prior AMA therapy.
• PCR is specific & more sensitive than B.M. culture.
Complications :
1. Intestinal perforation.
2. Myocarditis.
Common after 1st week.
3. CNS manifestations.
4. Pneumonia - caused by super infection - 10%.
5. Osteomyelitis & septic arthritis frequently seen in children with hemoglobinopathies.
Prevention : Active immunization :
Oral :
• Live, attenuated preparation of Ty21a strain of S. typhi: No longer available
commercially in India.
• Efficacy 67 - 82%.
• Dose : 3 enteric coated capsules on alternate days.
• Nor recommended in children < 6yrs.
Injectable :
• Capsular antigen Vi polysaccharide: Now most commonly used.
• Age >2 years.
134 | Paediatrics
• Single dose 0.5ml i.m. (25 - 30mcg).
• High sero conversion rate 91.6%.
• High antibody titer.
• Single shot - 3 year protection.
Treatment :
• Chloramphenicol.
• Ampicillin.
• MDR in 49 - 83%.
• Amoxicillin.
• Trimethoprim - Sulfamethoxazole.
• Ciprofloxacin.
• Cefotaxime.
• Ceftriaxone
• Short course of dexamethasone improves the survival & decreases the complications:
MCQ
• Recent MCQ: Azithromycin may be useful in FQ-resistant cases of enteric fever,
especially in younger age.
Carriers : Course of 4 - 6 week of high dose amphicillin (or amoxicillin) plus probenecid
or SMP - TMX or ciprofloxacin plus cholecystectomy within 14 days of antibiotic therapy
in c/o cholelithiasis or cholecystitis
Prognosis :
Mortality rate > 10%
Infants younger than 1yr & children with underlying disorder are at higher risk Individuals
who excrete S. typhi 3months or longer after infection are usually excretors at 1yr &
defined as chronic carriers
Infections | 135
Concept 7.7: Histiocytosis
Learning Objective: To understand the basic concepts of Histiocytosis
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
Histiocytosis:
Proliferation / accumulation of cells of the monocyte - macrophage system of bone
marrow origin
Classification of the Childhood Histlocytoses :

Class I Class II Class III
DISEASES
Langerhans cells histocytosis Familial erythrophagocytic Malignant histocytosis

lymphohistiocytosis (FEL)
Infection associated Acute monocytic leukemia

hemophagocytic syndrome
(IAHS)
CELLULAR CHAR ACTERISTICS OF THE LESIONS
Langerhans cells with Birbeck Morphologically normal Neoplastic proliferation of

granules reactive macrophages with cells with characteristics of
prominent erythrophagocytosis monocytes / macrophages or
their precursors
TREATMENT
Local therapy for isolated Chemotherapy ; allogenic BM , Antineoplastic Chemotherapy,

lesions; chemotherapy for Transplantation including anthracyclines
disseminated disease
136 | Paediatrics
Worksheet
• MCQ OF “INFECTIONS” FROM DQB

8 Cardiovascular System
CONCEPTS
Â Concept 8.1: Congenital Heart Disease
Â Concept 8.2: Acquired Heart Disease
Â Concept 8.3: CHF
Â Concept 8.4: Hypertension
Â Concept 8.5: Pericarditis
138 | Paediatrics
Concept 8.1: Congenital Heart Disease
Learning Objective: To understand the basic concepts of congenital heart disease in
children and learn important cases
Time Needed
1 Reading
st
30 mins
2 Look
nd
15 mins
Nada’s Criteria: Presence of one major or two minor fulfills criteria.
Major
1) Systolic murmur gr III or more associated with thrill.
2) Diastolic murmur.
3) Cyanosis.
4) CHF.
Minor
1) Systolic murmur < gr III.
2) Abnormal S2.
3) Abnormal ECG.
4) Abnormal Xray.
5) Abnormal BP.
I. Congenital Heart Disease:

Incidence : 8 / 1000 L.B.
1. Congenital malformation syndromes associated with congenital

heart disease.
Syndromes Features
Down syndrome Endocardial cushion defect, VSD, ASD
18 Trisomy VSD, ASD, PDA, Coarctation of aorta, bicuspid aortic / pulmonary valve
Turner syndrome Bicuspid aortic valve, coarctation of aorta
CHARGE Syndrome VSD, ASD, PDA, TOF, Endocardial cushion defect
VATER Syndrome VSD, TOF, ASD, PDA
Marfan’s syndrome Aortic aneurysm, AR & / MR
Congenital rubella syndrome PDA, peripheral pulmonic stenosis, VSD
Fetal hydantoin syndrome VSD, ASD, coarctation of aorta, PDA
Fetal alcohol syndrome ASD, VSD
Fetal valproate effects Coarctation of aorta, hypoplastic left heart,aortic stenosis, pulmonary
atresia, VSD
Cardiovascular System | 139
Cri du chat syndrome VSD, PDA, ASD

Halt - oram syndrome ASD, VSD, 1° heart block
Infant of Diabetic mother Hypertrophic cardiomyopathy, VSD, conotruncal anomalies
Noonan syndrome Pulmonic stenosis, ASD, cardiomyopathy
Gaucher Pericarditis
Pompe’s disease Short PR interval, cardiomegaly, heart failure, arrhythmias
Tuberous sclerosis Cardiac rhabdomyoma
2. Flow diagram of CHD

1. Acyanotic Defects:
(A) Increased Pulmonary blood flow with:
LVH or CVH.
VSD.
PDA.
ECD.
RVH:
ASD (often RBBB).
(B) Normal Pulmonary blood flow
LVH:
AS or AR.
Coarctation of aorta.
MR.
RVH:
PS.
Coarctation of Aorta in infants.
MS.
Pulm. Artery branch stenosis.
(C) LV Dysfunction
Myocarditis.
Endocardial fibroelastosis.
2. Cyanotic Defects :
(A) Increased PBF
LVH or CVH:
Persistant truncus arteriosus.
Single ventricle.
TGA + VSD.
RVH:
TGA  Hypoplastic left heart.
TAPVR  R/L shunts – Eisenmenger Syndrome.
140 | Paediatrics
(B) Decreased Pulmonary blood flow
LVH:
Tricuspid atresia, Ebstein anomaly.
RVH:
TOF ,Pulm. atresia.
CVH:
TGA with PS, T.A. with hypoplastic Pulm. Arteries.
3. Interpretation of CXR Findings:
Heart size :
Large heart : Large shunt.
Pericardial effusion.
Rules out TOF.
Cardiac silhoutte :
Boot shaped heart : TOF or tricuspid atresia.
Egg shaped heart : TGA
Snow man sign:Anomalous pulmonary venous return.
Right aortic arch :
TOF /persistent truncus arteriosus.
4. Atrial Septal Defect:
Isolated ASD : 5 - 10% of all CHDs
M : F = 1 : 2.
M.C. type of ASD : ostium secundum (50 - 70%).
Fig.8.1
C/F :
• Asymptomatic.
• Wide split fixed S2.
Natural history :
• Spontaneous closure by 1 1/2 yrs.
< 3mm - 100%.
3 - 8mm - 80%.
> 8mm - rare.
• Infective endocarditis does not occur in isolated ASD.
• Complications.
CHF: very rare.
Pulmonary HT.
Atrial arrhythmias.
Management :
• Surgical : Pericardial / Teflon patch at 3 - 4 yrs.
5. Ventricular Septal Defect:
• M.C. form of CHD (15 - 20%).
• M.C. type of VSD - perimembranous (70%).
C/F :
• Moderate to large VSD - FTT, repeated chest infections.
CHF
• Cyanosis & clubbing - PVOD (Eisenmenger’s syndrome).
• Regurgitation systolic murmur gr 2 - 5/6 with thrill at LLSB.
Natural History :
• Spontaneous closure by 6 months : 30 - 40%.
• CHF by 6 - 8 wks.
• PVOD. By 6 - 12 months.
• IE :< 2% children with VSD.
Management :
• Surgical : Direct closure through atrial approach.
• CHF &growth failure not responding to medical Rx within 6m.
• After 1 yr :Qp / Qs > 2 : 1.
• Surgery is C/I after Eisenmenger’s sets in.
6. Patent Ductus Arteriosus:
• More in premature infants.
C/F :
• Large PDA - Lower Respiratory tract infection.
- Atelectasis.
- CHF.
142 | Paediatrics
Differential cyanosis : PDA with reversal of shunt
• Bounding pulses with wide pulse pressure.
• Loud P2±.
• Continuous murmur at ULSB / LICA.
• Apical diastolic rumble.
Natural history :
• PDA in term infants : Spontaneous closure rare.
Complications:
• CHF.
• Recurrent pneumonia.
• PVOD.
• SBE (small).
Treatment :
• Medical closure: Ibuprofen> Indomethacin.
• Surgical closure: When medical closure fails or is contraindicated.
7. Endocardial Cushion Defect:
• M.C. seen in childern with Down’s syndrome = 30%.
Defects in complete ECD.
Ostium primum ASD.
Inlet VSD.
Common AV valve with large ant. & post. bridging leaflets.
C/F :
• FTT, repeated chest infection, CHF.
• S1 accentuated.
• S2 narrowly split (loud P2).
• Holosystolic murmur along LLSB
Goose-neck deformity seen on angiography…. MCQ.
Fig.8.2
Natural history :
• CHF by 1 – 2 m.
• Untreated death by 2 – 3 yrs.
Treatment :
• Surgical : 3 – 8 months.
8. Coarctation of Aorta:
• M.C. in Turner’s (30%).
• Bicuspid aortic valve (85%).
C/F :
• Dyspnea.
• Poor feeding.
• FTT.
• Shock.
• Differential cyanosis.
• Differential BP.
• S2 loud & single.
• loud S3 gallop.
Natural history :
• CHF : 20 – 30%.
Diagnosis :
• CXR.
E- shaped indentation on Ba – swallow.
3 – sign.
Ribnotching between 4 – 8 ribs.
Management :
• Medical
PGE, infusion.
O2.
Diuretics.
Ionotropes (Dopa, Dobuta).
• Surgical
Systolic pressure gradient :> 20mm in arm & leg :2-4yr.
9. Complete Transposition of Great Arteries:
C/F :
• Cyanotic at birth.
• Feeding problem, dyspnea, CHF.
• S2 single & loud. No murmur.
• Diagnosis : Art. Hypoxemia not responding to hyperoxia test.
TGA: Egg on side appearance on CXR.
144 | Paediatrics
Fig.8.3
Natural history :
• Untreated 90% die before 6 months
• Infants with intact ventricular septum sickest group –dramatic response after balloon
atrial Septostomy.
• Infants with VSD least cyanotic – most likely to develop CHF & PVOD.
Management :
• Medical
Correct acidosis.
10% Dextrose.
PGE1 infusion.
O2.
Balloon atrial septostomy.
• Surgical : Switch operations.
Senning / Mustard.
Rastelli.
Jatene.
10. Tetralogy of Fallot:
• M.C. cyanotic heart defect seen beyond infancy.
• One parent with TOF – 4.2%.
• One sibling with TOF – 3%.
Pathology :
• Large VSD.
• RVOT: can be valvular, supra or sub valvular.
• RVH.
• Overriding of aorta.
C/F :
• Cyanosis at birth.
• Heart murmur (+) at birth.
• Acyanotic TOF gradually becomes cyanotic.
• Hypoxic spells b/w 2 – 4 m of age.
• Dyspnea, clubbing, FTT.
• Brain abscess, CVA, SBE, Polycythemia, relative iron deficiency.
CXR: Boot shaped heart/ Coeur-en-sabot.
Fig.8.4
Poland’s syndrome
CHD (esp. TOF) + absence of right pectoralis major muscle + Syndactyly + brachydactyly
+ hypoplasia of involved hand.
Goldenhar’s syndrome.
Oculoauriculovertebral dysplasia + CHD (50% TOF).
Management :
• Medical :Management at cyanotic spells
1) Knee – chest position.
2) Morphine sulfate 0.2 mg/kg i.m. or s.c
3) O2.
4) Correct acidosis with sodium bicarbonate i.v.
5) i.v. Phenylephrine / Ketamine / Propranolol.
Oral Ppnl is given to prevent eoccurrence of spells.
• Surgical :Palliative surgery :
Blalock Taussig shunt / GoreTex shunt : b/w
subclavian artery and ipsilateral PA
Definitive surgery : after 3 – 4m
146 | Paediatrics
Patch closure of VSD, resection of infundibular tissues & placement of fabric patch.
Mortality : Uncomplicated TOF 2 – 5%.
11. Total Anomalous Pulmonary Venous Return: Without pulmonary venous
obstruction
C/F :
• CHF with growth retardation & frequent chest infection.
• Mild cyanosis since birth.
• Cardiac impulse maximal at x iphoid process and LLSB.
• Quadruple rhythm. S2 widely split & fixed. ESM at ULSB, mid-diastolic rumble at
LLSB.
Diagnosis :
CXR : (cardiomegaly with ↑ PVM) Snowman sign or figure of 8 configuration in
supracardiac type rarely before 4 months.
Fig.8.5
With pulmonary venous obstruction

C/F :
• Cyanosis & R.D in newborn with FTT.
• Worsening of cyanosis with feeding.
• Loud single S2 with gallop rhythm. No murmur.
• Pulmonary rales & hepatomegaly.
C Xray :
• Normal heart size.
• Lung fields s/o pulmonary edema (diffuse reticular pattern and kerley’s B lines).
12. Tricuspid Atresia:
C/F :
• Severe cyanosis at birth.
• Tachypnea, poor feeding, hypoxic spells.
• Single S2. Murmur of VSD (+).
• LV hypertrophy with cyanosis in neonatal period is important clue for Tricuspid atresia.
13. Ebstein’s Anomaly:
Associated with maternal Li ingestion in pregnancy.
Downward displacement of the septal and posterior leaflets of tricuspid valve into RV
cavity
C/F :
• Cyanosis and CHF during first few days of life.
• h/o palpitation, fatigue, dyspnea.
• Characteristic triple / quadruple rhythm. Wide split S2.
• Soft systolic regurgitant murmur of TR.
Diagnosis :
CXR :
• Large heart size (Maximum cardiomegaly seen in this…MCQ).
• Balloon shaped heart with decreased PVM.
Prognosis :
• Most common cause of death CHF.
• Attacks of SVT & WPW syndrome are common.
14. Pulmonary Stenosis:
C/F :
• Completely asymptomatic / exertional dyspnea &fatiguability / CHF.
• Right ventricular tap & systolic thrill at ULSB and SSN.
• Systolic ejection click / wide split S2 / SEM.
15. Aortic Stenosis:
C/F :
• Asymptomatic / exertional chest pain, dyspnea / fatigue/ CHF.
• Narrow pulse pressure in severe AS. Supravalvular AS – higher SBP in right arm.
• Systolic thrill at ULSB, SSN, Carotid arteries.
• Ejection click with normal split.
SEM at 2 RICS or 3 LICS with good transmission to neck & apex.
• Peculiar elfin facies & MR seen in supravalvularAS (eg. William syndrome)
148 | Paediatrics
Concept 8.2: Acquired Heart Disease: Rheumatic Fever
Learning Objective: To understand the basic concepts of Rheumatic Heart Disease in
children
Time Needed
1 Reading
st
15 mins
2 Look
nd
05 mins
II. Rheumatic Fever:

• Group A β-hemolytic streptococci strains M type 1,3,5,6 &18.
• Most frequent b/w 5 – 15 yrs.
• Latent period 3 weeks.
Revised Jone’s criteria for diagnosis of RF.
Recently updated in 2015. Criteria made slightly different for low risk and medium to
high-risk populations.
MAJOR CRITERIA MAJOR CRITERIA
Low-risk population Moderate- and high-risk populations
Carditis Carditis
• Clinical and/or subclinical • Clinical and/or subclinical
Arthritis Arthritis
• Polyarthritis only • Monoarthritis or polyarthritis
• Polyarthralgia
Chorea Chorea
Erythema marginatum Erythema marginatum
Subcutaneous nodules Subcutaneous nodules
MINOR CRITERIA MINOR CRITERIA
Low-risk populations Moderate- and high-risk populations
Polyarthralgia Monoarthralgia
Fever (≥ 38.50C) Fever (≥ 380C)
ESR ≥ 60 mm in the first hour and/or CRP ≥ 3.0 mg/ ESR ≥ 30 mm/h and/or CRP ≥ 3.0 mg/dL
dL
Prolonged PR interval, after accounting for age Prolonged PR interval, after accounting for age
variability variability
(unless carditis is a major criterion) (unless carditis is a major criterion)
Essential Criteria:
Evidence of a preceding group A streptococcal infection (culture, rapid antigen, antibody
rise/ elevation).
Carditis:
• M.C. valvular lesion : MR.
• MC manifestation in Indian children with RF.
• Occurs in 40-80% of RF patients.
• Other manifestations : MS, AR, pericarditis, pericardial effusion, 1° heart block.
• Myocarditis / pericarditis in absence of valvulitis is not likely to be due to RF.
Migratory Polyarthritis :
• Red, warm, swollen, tender.
• Large joints : elbow, knee, ankle, wrist.
• Need not be symmetric.
• No joint deformity.
• Untreated, persists for 2 to 3 weeks.
Chorea : Syndeham’s chorea / St. Vitus dance / Chorea minor.
• 20% patients of RF.
• Basal ganglia & caudate nuclei.
• Delayed manifestation - 3months / more.
• Untreated, symptoms resolve in 1 - 2 weeks.
Erythema Marginatum : less than 5%.
• Evanescent, erythematous, macular, non-pruritic rash with pale centers and rounded/
serpiginous margins.
• Trunk and extremities.
Subcutaneous nodules :< 3%.
• Firm, painless, freely movable nodules.
• Extensor surface of joints, occipital scalp, spinous process.
Peak ASO titer 3 - 6 week after infection
Peak Anti DNase - B titer 6 - 8 week after infection.
Throat culture positive in only 10% cases.
Treatment :
1. Bed-rest - till fever subsides & acute phase reactants reach normal.
2. Penicillin / erythromycin x 10 days.
3. Salicylates for joint pain.
Aspirin 100mg/kg/d
4. Corticosteroids for CHF and pericarditis: Maximum duration is 12 weeks.
Prevention :
Primary prevention.
Benzathine Penicillin 6 lac units i.m. for < 27 kg.
1.2 mu i.m. for > 27 kg
Erythromycin 40mg/kg/day x 10 days.
150 | Paediatrics
Secondary Prevention :
Chemoprophylaxis for Recurrences of Acute Rheumatic Fever (Secondary
Prophylaxis)
DRUG DOSE ROUTE
Penicillin G benzathine 600,000 IU for children weighing ≤ 60 Ib and 1.2 million Intramuscular
IU for children > 60 Ib, every 4 wk*
Or
Penicillin V 250 mg, twice daily Oral
Or
Sulfadiazine or sulfisoxazole 0.5 g, once daily for patients weighing ≤ 60 Ib Oral
1.0 g, once daily for patients weighing > 60 Ib
For People Who Are Allergic to Penicillin and Sulfonamide Drugs
Macrolide or azalide Variable Oral
*In high-risk situations, administration every 3 wk is recommended.
Duration of Prophylaxis for People Who Have Had Acute Rheumatic Fever :
AHA Recommendations
CATEGORY DURATION
Rheumatic fever without carditis 5 yr or until 21 yr of age, whichever is longer
Rheumatic fever with carditis but without residual 10 yr or until 21 yr of age, whichever is longer
heart disease (no valvular disease*)
Rheumatic fever with carditis and residual heart 10 yr or until 40 yr of age, whichever is longer;
disease (persistent valvular disease*) sometimes lifelong prophylaxis
*Clinical or echocardiographic evidence.
Bacterial Endocarditis Prophylaxis.

Concept 8.3: CHF
Learning Objective: To understand the basic concepts of CHF in children
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
III. Congestive Heart Failure:

Etiology : Fetal:
• Severe anaemia.
• SVT.
• Ventricular tachycardia.
• Complete heart block.
Premature Neonate:
• Fluid overload.
• PDA.
• VSD.
• Cor pulmonale.
• HT.
Full term neonate:
• Asphyxial cardiomyopathy.
• AV malformation.
• Left sided obstructive lesion (COA, hypoplastic left heart).
• Large mixing cardiac defect. (single ventricle, truncus arteriosis).
• Viral myocarditis.
Infant - Toddler:
• L - R shunt (VSD).
• Hemangioma.
• Metabolic cardiomyopathy.
• Ac. HT (HUS).
• SVT.
• Kawasaki disease.
Child - Adolescent
• RF.
• Acute HT (GN).
• Viral myocarditis.
• Thyrotoxicosis.
• Hemochromatosis - hemosiderosis.
• Cancer therapy.
152 | Paediatrics
• Endocarditis.
• Cardiomyopathy.
C/F :
Infants: Tachypnea, poor feeding, poor wt. gain, excessive sweating, wheezing,
pneumonitis (RML, RLL).Hepatomegaly, gallop rhythm, Edema especially of eyelids &
Sacrum.
Children: Fatigue, anorexia, effort intolerance, cardiomegaly, ↑JVP, Hepatomegaly, basal
crepts, dependent edema, gallop rhythm.
Diagnosis :
CXR- Cardiac enlargement.
Fluffy perihilar pulmonary markings. s/o venous congestion and ac. pulmonary
edema.
ECG.
ECHO.
ABG.
S. electrolytes.
Management :
• Semi - upright position.
• Calorie dense diet.
• Salt restricted diet.
• Digitalis : 0.04 - 0.05mg/kg over 3 divided doses.
• Diuretics : Furosemide; Spironolactone; Chlorothiazide.
• After load reducing agents : CHF sec. to CMP, MR, AR.
L - R shunt, Nitroprussides, Hydralazine, Captopine.
Dopamine. Dobutamine. Amrinone.
Concept 8.4: Hypertension
Learning Objective: To understand the basic concepts of Hypertension in children
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
IV. Hypertension in Childhood:

Hypertension : Pressure consistently above the 95th centile for age.
M.C. cause of HT in children : Renal (UTI - 25 - 50%).
Etiology :
Renal :
• Chronic pyelonephritis.
• Chronic glomerulonephritis.
• Hydronephrosis.
• Congenital dysplastic kidney.
• Multiple dysplastic kidneys.
• VUR.
Vascular :
• Coarctation of aorta.
• Renal artery lesions.
• Renal vein thrombosis.
• Vasculitis.
• A-V shunt.
• Umblical artery catheterization with thrombosis formation.
Endocrine :
• Hyperthyroidism.
• Hyperparathyroidism.
• Congenital adrenal hyperplasia.
• Cushing Syndrome.
• Primary aldosteronism.
• Pheochromocytoma.
CNS :
• Intracranial mass.
• Hemorrhage.
Management :
• 1/3rd of total planned reduction over 8 hrs.
• Rest over 48 - 72 hrs.
DOC : i/v labetalol.
Nitroprusside.
s/l nifedipine is no longer recommended.
154 | Paediatrics
Concept 8.5: Pericarditis
Learning Objective: To understand the basic concepts of Pericarditis in children
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
V. Pericarditis:
Etiology:
• Viral.
• Acute RF.
• Bacterial (purulent) -Staph. aureus, S. pneumoniae, H. influenzae, N. meningitidis,
Streptococci.
• Tuberculosis (constrictive).
• Cancer therapy.
• Collagen disease - JRA.
• Uremia.
C/F :
• H/o URI.
• Precordial pain.
• Pericardial friction rub.
• Fever, tachycardia, dyspnea
Signs of cardiac tamponade.
Diagnosis :
ECG : Low voltage ORS complexes.
X-ray : Pear shaped / water-bottle shaped heart.
ECHO.
Fig.8.6
Management :
• Pericardiocentesis / surgical drainage.
• Digitalis - C/I in cardiac tamponade.
• CHD with Increased Pulmonary Blood Flow (Present with CHF, Recurrent Chest
Infection & Failure to thrive).
156 | Paediatrics
Worksheet
• MCQ OF “CVS” FROM DQB

9 Respiratory System
CONCEPTS
Â Concept: 9.1: Viral Pneumonia
Â Concept: 9.2: Bacterial Pneumonia
Â Concept: 9.3: Bronchial Asthma
Â Concept: 9.4: Malformations of lung
Â Concept: 9.5: Infections of upper airway
Â Concept: 9.6: Bronchiolitis
Â Concept: 9.7: Hemoptysis
Â Concept: 9.8: Bronchiectasis
Â Concept: 9.9: Pulmonary abscess
Â Concept: 9.10: Diphtheria & Pertussis
Â Concept: 9.11: Foreign Body
Â Concept: 9.12: R
ecurrent Pneumonia and
Cystic Fibrosis
158 | Paediatrics
Concept 9.1: Viral Pneumonia
Learning Objective: To understand the basic understanding of Viral Pneumonia in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
I. Viral Pneumonia:
Etiology: RSV, Parainfluenza, Influenza, Adenovirus.
Diagnosis:
1) Blood
TLC (< 20,000) , DLC.
CRP.
ESR.
Rapid test for viral antigens.
2)
Diffuse infiltrates.
Hyperinflation.
Treatment :
• Supportive management.
• Influenza A - A
mantadine (within 48 hrs of onset).
• RSV - Ribavarin.
Prognosis:
• Higher incidence of developing bronchiolitis obliterans, unilateral hyperlucent lung.
• Adenovirus - fatal acute fulminant pneumonia.
Respiratory System | 159
Concept 9.2: Bacterial Pneumonia
Learning Objective: To understand the basic understanding of Bacterial Pneumonia in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
II. Bacterial Pneumonia:

1) Pneumococcal Pneumonia:
Usually lobar pneumonia but in infants it is more often a bronchopneumonia.
C/F
• At onset - mild URI.
• Few days later - fever (> 39° C) , R.D. with cyanosis.
• Crepts and ↓ breath sounds on affected side, dull on percussion
Gastric dilatation.
• Abd. Distention, Ileus.
• Liver pushed down.
• Nuchal rigidity in absence of meningitis.
• Crepts ↑ with resolving pneumonia.
Children and Adolescents:

URI - fever with chills, tachypnea, dry hacking cough.
Diagnosis:
• Blood - WBC count (15,000 - 40,000) < 5000 poor prognosis
-A BG - ↓ pO2 with normal pCO2
• - Blood culture
• Pleural tap - Cyto
• - C/S
• Xray -C onsolidation evident even before physical signs
• -R esolves over several weeks
Complications:
• Ileus
• Empyema (infants > older children)
Treatment:
• C.P. (1 lac units / Kg / day).
• O2.
• IVF.
• Sedation.
160 | Paediatrics
2. Streptococcal Pneumonia:
• Grp. A Strep. pneumonia seen after episode of exanthem or epidemic influenza.
• Causes tracheitis, bronchitis and interstitial pneumonia.
• Pleurisy is common - serous; rarely serosanguineous, or purulent.
Diagnosis:
• Blood - WBC count.
• - ASLO titer.
• - Blood culture.
• X-ray - d
iffuse BPN with large pleural effusion.
• Pleural tap - Cyto.
• - C/S.
Complications:
• Empyema (20%).
• Septic. arthritis / osteomyelitis.
Treatment:
• C.P. initially - later oral for 2 - 3 wks.
3. Staphylococcal Pneumonia:
• Oct - May.
• 30% - < 3m.
• 70% - < 1yr.
Confluent bronchopneumonia (U/L)

↓
Subpleural abscess
↓
Pyopneumothorax
↓
Broncho pleural fistula
Diagnosis:
• URI x 1wk.
• Sudden deterioration in form of fever, cough, R.D., toxic,severe dyspnea, shock,
abdominal distention.
O/E :
• ↓ breath sounds.
• Crepts.
• Rhonchi.
Diagnosis:
• Blood .
TLC ≥ 20,000.
< 5,000 - poor prognosis.
C/S.
• Tracheal aspirate .
gram stain.
• Pleural tap .
gram stain.
cyto (PMN - 300 - 1 lac / mm3).
biochem (protein > 2.5).
glucose ↓↓.
C/S.
• CXR .
Non specific bronchopneumonia.
PatchyLobar / hemithorax.
Right lung more commonly involved (65%).
Bilateral (20%).
Pleural effusion / Empyema / Pyopneumothorax.
Pneumatoceles - may persist for months.
Prognosis:
• Mortality - 10 - 30%.
Treatment :
• Semisynthetic penicillinase resistant penicillin.
• Nafcillin 200mg / Kg / 24hr.
• Closed Chest tube drainage (5 - 7 days).
4. H. influenzae pneumonia:
• Usually lobar pneumonia, but cases with bronchopneumonia have been described.
• Insidious onset, prolonged course
• Positive urine latex agglutination
Complications:
• Bacteremia
• Pericarditis
• Cellulitis
• Empyema
• Meningitis
• Pyoarthrosis
Treatment:
• Ampicillin + Chloro / Ceftriaxone × 10 - 14 days
• Needle thoracocentesis
162 | Paediatrics
Concept 9.3: Bronchial Asthma
Learning Objective: To understand the basic understanding of Bronchial Asthma in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
III. Bronchial Asthma:

Definition:
Diffuse, obstructive lung disease with.
a) Hyper reactivity of the airways to a variety of stimuli.
b) High degree of reversibility of the obstructive process - spontaneously / as a result
of treatment.
Symptom complex of asthma includes
a) Wheezy bronchitis.
b) Virus associated wheeze.
c) Atopy related asthma.
Laboratory Diagnosis:
• Blood.
Absolute Eosinophil count (> 250 - 400).
IgE levels ↑.
• Sputum - Eosinophilia.
• Allergy skin testing and rast (radio allergo sorbent test).
• Inhalational bronchial challenge test.
• Exercise testing.
• Chest X-ray.
• Pulmonary function tests.
• SpO2.
• Arterial Blood gases.
Indications for starting steroids at outset
i) Severe / very severe asthma.
ii) Previous h/o severe attacks not responding to bronchodilators.
iii) On oral steroids / high dose inhalational steroids for prophylaxis.
Classification of Asthma Severity:

Mild Intermittent:
1. Symptoms less than once a week.
2. Brief exacerbations.
3. Nocturnal symptoms not more than twice a month.
FEV1 or PEF > 80% predicted, variability < 20%.
Mild Persistent:
1. Symptoms more than once a week but less than once a day.
2. Exacerbation may affect activity and sleep.
3. Nocturnal symptoms more than twice a month.
FEV1or PEF > 80% predicted variability < 20 – 30%.
Moderate Persistent:
1. Symptoms daily.
2. Exacerbation may effect activity and sleep.
3. Nocturnal symptoms more than once a week.
4. Daily use of inhaled short acting ß2 agonist.
FEV1 or PEF 60-80 % predicted, variability > 30%.
Severe Persistent:
1. Symptoms daily.
2. Frequent exacerbations.
3. Frequent nocturnal asthma symptoms.
4. Limitation of physical activities.
FEV1 or PEF <60% predicted, variability > 30%.
Long Term Management of Bronchial Asthma:

Goals of therapy:
1. Maintain normal activity.
2. Prevent sleep disturbance.
3. Prevent chronic asthma symptoms.
4. Keep asthma exacerbations from becoming severe.
5. Maintain normal lung function.
6. Experience little of no adverse effect of medication.
Indentification and Elimination of Exacerbation Factors:

Allergen exposure elimination:
I. Pets
II. Pests
III. Dust mites
IV. Cockroaches
V. Molds and spore
VI. Pollen
Irritants : Smoke, dusts, odors and perfumes, mosquito repellant
mats.
Precipitants: Viral infections.
Drugs: Aspirin/NSAIDs, Propanolol.
Diet: Food additives, dietary substances.
Treat comorbld conditions: Allergic rhinitis, sinusitis & GER.
164 | Paediatrics
Pharmacotherapy:
First Choice Other Options
Grade 4 Medium tohigh dose inhaled steroid + LABA
(Severe Persistent) if needed add oral steroids.
Grade 3 Low dose inhaled steroid + LABA*. Low/medum dose inhaled steroid
(Moderate Persistent) or Medium dose inhaled steroids **. +LTRA/SR theophylline*.
If recurring severe exacerbations medium dose
inhaled steroids + LABA*.
Grade 2 CROMOLY
(Mild Persistent) Low dose inhaled steroids. LTRA
SR theophylline*
Grade 1
(Mild Intermittenet) No daily medication.
*children above 5 years only.
**children below 5 years.
LABA : Long acting ß2 agonists. LATRA: Leukotriene receptor antagonist.
Metered dose inhaler 9MDI) with spacer is suitable for all age groups. For smaller children (< 3 years) actach a face mask.
Exercise Induced Asthma (EIS) :

• Non pharmacological advice.
• Encourage indoor sports, swimming. Yoga.
• Avoidance of outdoor exercise on winter morning.
• Practice nose breathing and slow deep hreathing during exercise.
• Advice warming up within I bour of main activity.
• Notify teacher/coach.
Pharmacologic advice:
For prevention: Grade severitly, initiate suitable preventer regime.
A. Infrequent exercise: Inhaled short acting ß2 against 15-30 minutes before exercise
Helpful for 2-3 hours.
B. Frequent exercise: Inhaled long acting ß2 against or leukotriene receptor antagonist
(LTRA).
For treatment: inhaled short acting ß2 against.
Grading of severity of acute asthma:

Clinical parameter Mild Moderate Severe
Color Normal Normal Pale
Senorium Normal Anxious Agitated
Respiratory rate ↑ ↑ ↑
Dyspnea Absent Moderate Severe
(can speak sentences) (can speak in phrases) (difficulty in speech)
Accessory muscles Nil or minimal Chest indrawing Chest indrawing

Pulsus paradoxus <10 mm 10-20 mm >20 mm
Rhonchi End expiratory Expiratory and inpiratory Expiratory. Inspiratory
or absent
PEFR >80% 60-80 % <60%
SaO2 > 95% 90-95 % <90%
Treatment of Acute Episode:

Mild
SA ß2 agonist
MDI + spacer + mask
Increase 2-4 puffs q20 minutes x-3
↓↓
Sustained Not sustained for 4-6 hrs
4-6 hrs 1st dose rescue steroid
Home Plan
MODERATE
• SA ß2 net q 20 min x 3
• O2
• Commence / continue rescue steroid for 3-7 days
• Observe hourly for 3-4 hrs
↓
Sustained for 4-6 hrs
ER OR Side Room Plan
Severe
O2 iv fluids SA ß2 agonized q 1 hr / continuous
May switch to I/V steroid Ipratropium nebulization q 6-8 hrs
Ipratropium nebulization q 30 min x 3 Aminophylline continuous I/V infusion
Continue SA ß2 agonist q 1 hr / continuous CBC, X-ray chest, SK*
Monitor vital signs Monitoring: Blod gas studies if SaO2 <92%
Observe over 1-2 hrs MgSO4 I/V infusion over 30 min And/or
↓ Terbutaline I/V infusion
Sustained for 4-6 hrs Last in – first out principle
Ward Plan Intensified Ward
ICU PLAN
Continue intensified ward plan
Blood gas studies
Possible intubation and mechanical ventilation
166 | Paediatrics
Concept 9.4: Congenital Lung Malformations
Learning Objective: To understand the basic understanding of congenital lung
malformations in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
IV. Pulmonary Sequestration:

• Mass of non-functioning embryonic and cystic pulmonary tissue that derives its entire
blood supply from systemic circulation.
Intralobar Extralobar
Found in lower lobe More common.

On left side.
Present usually with infection, Hemoptysis Associated with colonic duplication, vertebral
abnormalities, pulmonary hypoplasia.
Asymptomatic, hemoptysis.
CXR - mass lesion - blurred margins, air-fluid levels Asymptomatic / RD / heart air-fluid level with
failure.
Diagnosis:
CXR, USG, aortography, bronchography.
Rx: Surgical removal of involved area / lobe.
V. Cystic Adenomatoid Malformation:

• Second most common congenital lung lesion.
• M > F.
• Cysts very common ; cartilage rare.
C/F :
• Repiratory distress / recurrent LRTS / pneumothorax.
• Breath sounds ↓↓ with mediastinal shift.
Prenatal diagnosis:
• USG (26 weeks).
Diagnosis : CXR.
Treatment : Surgical excision of affected lobe.
Prognosis : ↑ risk for primary pulmonary neoplasms.
Concept 9.5: Infections of the upper airway
Learning Objective: To understand the basic understanding of infections of upper
airway in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
VI. Infections of Upper Airway:

• M.C. form of upper airway obstruction : Croup.
1. Croup
• M.C. etiological agent : viral (parainfluenza) 3m - 5yr.
• Family h/o croup.
C/F:
• URI - cough.
• Mild barking cough with intermittent inspiratory stridor-continuous with f/o R.D.
• Fever is rarely elevated (not greater than 102° F).
• Symptoms more at night, recur, prolonged course.
• B/L breath sounds ↓↓, rhonchi & crepts (+).
• F/O respiratory failure & shock.
• Avoid manipulation of airway.
Diagnosis:
• XR Nasopharynx (AP) : narrow subglottic opening (steeple sign).
Treatment:
• Steam inhalation.
• O2.
• Dexamethasone: If stridor on crying/exertion.
• Racemic Epinephrine Nebulization: If stridor at rest. Can also use heliox inhalation in
very severe cases.
2. Acute Epiglottitis:
C/F:
• High fever, sore throat, dyspnea, aphonia, drooling and R.D. with stridor, hyperextension
of neck.
Complete airway obstruction & death.
• Short course with treatment.
168 | Paediatrics
Diagnosis :
• D/L : large, swollen cherry red epiglottis
• Avoid airway manipulation & ABG.
• Lateral XR of Nasopharynx- “Thumb sign”.
Treatment :
• Airway - intubation / tracheostomy done early.
• IVF
• Antibiotics - Cefotaxime / Ceftriaxone / Ampi with Sulbactam.
Concept 9.6: Bronchiolitis
Learning Objective: To understand the basic understanding of bronchiolitis in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
VII. Bronchiolitis:
• Inflammatory obstruction of small airways.
• Incidence 0 - 2 yrs (max. 6 months).
• Etio : viral (RSV).
• Risk factors
Top-fed.
Poor lung function.
Smoking mothers.
• Bronchiolar obstruction due to edema and accumulation of mucus & cellular debris.
(R α 1 /r4) :
C/F :
• Fever, nasal discharge.
• Wheezy cough, dyspnea.
• Tachypnea (RR - 60 - 80) , cyanosis.
• Fine end inspiratory crackles.
• Expiratory wheeze.
• Breath sounds ↓↓.
Diagnosis :
• Blood - CBC.
• CXR - hyperinflation
- scattered areas of consolidation in 30%.
Treatment :
• Humidified O2.
• IV Fluids.
• Ribavarin.
• Nebulised bronchodilators.
• Epinephrine.
• Steroids.
Prognosis :
• First 48 - 72 hrs most critical.
• 1% mortality.
• Higher incidence of RAD/ bronchial asthma in later childhood.
170 | Paediatrics
Concept 9.7: Hemoptysis
Learning Objective: To understand the common causes of hemoptysis in children
Time Needed
1st Reading 05 mins
2 Look
nd
02 mins
VIII. Hemoptysis:
Infection - Pneumonia
- Bronchiectasis
Congenital defects - Heart defects
- Eisenmenger syndrome
- Abnormal A-V connections
- Pulmonary sequestration
Foreign body
Inflammatory - Henoch - Schonlein purpura
- Goodpasture syndrome
- Wegner granulomatosis
Trauma - Contusion
Iatrogenic - Post transbronchial lung biopsy
- Post diagnostic lung puncture
Pulmonary embolus
Others - Coagulopathy
- Heart failure
- Post surfactant therapy in neonates
- Epistaxis
Concept 9.8: Bronchiectasis
Learning Objective: To understand the basic understanding of bronchiectasis in
children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
IX. Bronchiectasis:
Definition : Permanent dilatation of sub-segmental airways associated with inflammatory
destruction of bronchial / peri-bronchial tissue.
Etiology :
• Congenital.
• Acquired.
Chronic infection.
Cystic fibrosis.
Foreign body.
Lung abscess.
GER.
• Pseudobronchiectasis - pertussis.
Right middle lobe segments, basal segments of the lower lobes and lingular
segments of the left upper lobe most frequently involved.
Right lower lobe m.c. involved in F.B. aspiration.
Right middle lobe is most frequently affected by hilar lymphadenopathy.
C/F :
• Cough with copious mucopurulent sputum.
• Recurrent LRTI, anorexia, FTT, hemoptysis.
• Fever rare.
• Intermittently improving and relapsing course.
• Clubbing if > 1yr.
• Moist / musical rales.
Diagnosis :
• CXR - railroad tracks with crowding.
• Bronchography.
• CT.
• Bronchoscopy and BAL.
Right middle lobe syndrome
• Subacute / chronic pneumonitis.
• Bronchial obstruction.
• Atelectasis.
• Bronchiectasis.
172 | Paediatrics
Young syndrome
• Sinusitis.
• Bronchiectasis.
• Azoospermia.
Yellow nail syndrome
• Pleural effusion.
• Lymphedema.
• Discolored nails.
• Bronchiectasis.
Treatment :
• Postural drainage.
• Antibiotics x 2 - 3 wks.
• Influenza vaccine yearly.
• Surgical or resection (segmental / lobar).
Concept 9.9: Pulmonary Abscess
Learning Objective: To understand the basic understanding of Pulmonary Abscess in
children
Time Needed
1 Reading
st
05 mins
2 Look
nd
02 mins
X. Pulmonary Abscess
Causes:
1) Aspiration of infected material (Anaerobes).
2) Pneumonia (Staph / Kleb).
3) Bronchial obstruction (Tumor / FB).
4) Metastatic.
5) Acute Liver Abscess.
Site : Posterior segment of UL or superior segment of LL.
C/F :
• Insidious: fever, malaise, anorexia, and wt. loss.
• Cough with hemoptysis.
• R.D., spiking fever, chest pain.
Diagnosis:
• Blood.
TLC.
C/S.
• CXR- Cavity with or without fluid level surrounded by alveolar infiltrate.
• Sputum - Gram stain.
C/S.
• USG / CT guided percutaneous drainage
Treatment:
• CP (1lac units/Kg/d) or Clindamycin x 4 - 6 wks.
• Surgical drainage indicated if.
a) Recurrent hemoptysis.
b) Bronchopleural fistula.
c) Repeated infections.
d) Malignancy.
174 | Paediatrics
Concept 9.10: Diphtheria and Pertussis
Learning Objective: To understand the basic understanding of diphtheria and pertussis
in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
XI. Diphtheria:
Etio : Corynebacterium diptheriae, aerobic, nonspore forming, non encapsulated, non
motile, gram positive bacilli.
Pathogenesis :
• Organism remains in superficial layers of skin / respiratory mucosa inducing local
inflammatory reaction.
• 62 KD polypeptide exotoxin inhibits protein synthesis and causes local tissue necrosis.
• Gray brown adherent pseudomembrane, which is difficult to remove, reveals a
bleeding edematoussubmucosa.
C/F :
• Primary focus of infection - tonsils.
• Fever (not more than 39° C) , serosanguinous, purulent erosive, rhinitis withmembrane
formation.
• Ulceration of nares & upper lip.
• Sore throat.
• Paralysis of palate & hypopharynx.
• Tubular Necrosis; thrombocytopenia, cardiomyopathy and demydination of nerves.
• “Bull neck“ appearance.
• Superficial, non healing ulcer with gray-brown membrane involving the extremities.
• Cardiomyopathy seen in 2nd - 3rd wk (1-6wk) in 10 - 25% patients.
Prolonged PR interval & changes in ST - T wave.
1°, 2° & 3° heart block, AV dissociation, V tac.
• Cranial neuropathies in 5th week - Oculomotor & Ciliary paralysis.
• Symmetric polyneuropathy (1wk - 3m) - motor deficit (distal - proximal) with ↓ DTRs,
diaphragmaticparalysis.
Diagnosis:
• Nasopharyngeal swab.
gram stain.
culture (cystine - tellurite blood agar).
Elek’s gel precipitation test.
PCR.
toxin neutralisation test in guinea pigs.
Treatment:
• i.v. Antitoxin (20,000 - 1lac units) administered over 30-60min.
• Penicillin / erythromycin x 14 days -2 negative culture 24hr apart.
• Asymptomatic case contacts given oral. erythromycin x 7days or benzathine penicillin.
i.m. and diptheria.
toxoid vaccine given to immunized individuals not received booster within 5yr.
• Asymptomatic carriers are given AMA prophylaxis and toxoid if there has not been
abooster within 1yr & placed in isolation till culture negative.
Immunization : Immunization does not preclude respiratory or cutaneous carriage
XII. Pertussis:
Etiology :
ordetella pertussis - Pertussis toxin.
B
B. parapertussis.
Epidemiology : July - October.
SAR : 100%.
C/F :
• Incubation period : 3 - 12 days.
• Catarrhal stage (2wk) : fever, rhinorrhea, conjunctival suffusion.
• Paroxysmal stage: dry hacking paroxysmal cough - expulsion of thick secretions.
Whoop (forceful inspiratory gasp) –infrequent in infants < 3 mo.
Post tussive emesis, conjunctival hmg & petechiae.
• Convalescent stage: Cough & whoop may become louder.
Diagnosis :
• Blood TLC - (15,000 - 1 lac / mm3).
• DLC - lymphocytosis.
• Platelet count.
• CXR Perihilar, infiltrate edema (butterfly appearance) with atelectasis.
• Nasopharyngeal swab.
Direct fluorescent Ab.
Culture (Regan - Lowe charcoal agar with 10% horse blood).
PCR.
Complications :
• Pneumonia (25%).
• Seizures.
• Encephalopathy.
• Apnea.
Treatment :
• Supportive- O2.
intubation, paralysis & ventilation.
176 | Paediatrics
• Erythromycin x 14 days.
• Isolation x 5 days after initiation of therapy.
• Erythromycin & (immunization to contacts < 7yr).
Prevention :
• Whole cell vaccine.
Pain
Fever.
Swelling.
Erythema.
Drowsiness.
Seizures (1:1,750).
Persistent inconsolable crying.
Collapse / shock like state (1:1,750)
Encephalopathy (1 : 140,000).
Concept 9.11: Airway Foreign Body
Learning Objective: To understand the basic understanding of airway foreign bodies
in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
XIII. Foreign Body:

1. Laryngeal FB:
C/F :
• Croupy, hoarse cough.
• Dyspnea, aphonia, wheeze, hemoptysis, cyanosis.
Diagnosis :
• Direct Laryngoscopy.
• X-ray of neck (AP & Lat).
Treatment :
• Endoscopic removal.
• Tracheotomy.
2. Bronchial FB:
C/F :
• Cough, wheeze, blood-streaked sputum.
• Latent period of cough & slight wheeze.
• Recurrent lobar pneumonia / intractable wheeze.
• Tracheal shift, ↓ breath sounds.
• If FB is a vegetable (eg. Peanut) - bronchitis - cough, fever with chills, dyspnea.
Diagnosis :
• CXR : expiratory film.
• Bronchoscopy.
178 | Paediatrics
Concept 9.12: Recurrent Pneumonia and Cystic Fibrosis
Learning Objective: To understand the basic understanding of Recurrent Pneumonia
and Cystic Fibrosis in children
Time Needed
1 Reading
st
15 mins
2 Look
nd
10 mins
Recurrent pneumonia is defined as 2 or more episodes in a single year or 3 or more

episodes ever, with radiographic clearing between occurrences. An underlying disorder
should be considered if a child experiences recurrent pneumonia (Next Table).
Differential Diagnosis of Recurrent Pneumonia

HEREDITARY DISORDERS
Cystic fibrosis
Sickle cell disease
DISORDERS OF IMUNITY
HIV/AIDS
Bruton agammaglobulinemia
Selective immunoglobulin G subclass deficiencies
Common variable immunodeficiency syndrome
Severe combined immunodeficiency syndrome
Chronic granulomatous disease
Hyperimmunoglobulin E syndromes
Leukocyte adhesion defect
DISORDERS OF CILIA
Primary ciliary dyskinesia
Kartagener syndrome
ANATOMIC DISORDERS
Pulmonary sequestration
Lobar emphysema
Congenital cystic adenomatoid malformation
Gastroesophageal reflux
Foreign body
Tracheoesophageal fistula (H type)
Bronchiectasis
Aspiration (oropharyngeal incoordination)
Aberrant bronchus
Cystic Fibrosis:
• Most common life limiting autosomal recessive genetic disorder in whites.
Genetics:
Locus on long arm of chromosome 7 (7q)
The CF gene codes for a protein : CF transmembrane regulator (CFTR).
This regulates chloride conductance channels expressed largely in epithelial cells of
airways, the gastrointestinal tract, the sweat glands and genitourinary system.
Most prevalent mutation: Deletion of a single phenylalanine residue at amino acid 508
(Λ F 508).
Almost uniformly associated with pancreatic insufficiency.
Pathogenesis:
The membrane of CF epithelial cells are unable to secrete chloride ions in response
to cAMP mediated signals and at least in the respiratory tract. Excessive amounts of
sodium are absorbed through these membranes.
1. Failure to clear mucous secretions.
2. A paucity of water in mucous secretions.
3. An elevated salt content of sweat and other serous secretions.
4. Chronic infection limited to the repiratory tract.
Airflow obstruction at the level of small airways is the earliest observable
physiological abnormality of the respiratory system.
Earliest pathologic lesion in the lung: Bronchiolitis.
With advanced disease upper lobes are most commonly involved.
Clinical features correlate with the residual CFTR activity.
1%o normal CFTR activity → lung disease and pancreatic.
5% of normal CFTR activity → pancreatic function is retained.
10% of normal CFTR activity → Isolated congenital bilateral absence of the vas
deferens or idiopathic chronic pancreatitis.
Clinical Features:
Two cardinal symptoms:
• Recurrent respiratory tract infections and chronic diarrhea with massive steatorrhea.
Respiratory Tract:
• Cough is the most constant symptom of pulmonary involvement.
• The rate of progression of lung disease is the chief determinant of morbidity and
mortality.
• Staphyloccus aureus or Pseudomonas aeruginosa on cultre of the lower airways
(e.g.splutim) strongly suggest CF.
• Mucoid forms of pseudomonas are virtually diagnostic.
• Colonization will burkbolderia cepacia may be associated with particularly rapid
pulmonary deterioration and death
• Mutation R117H may substantially or even fully spare the lungs.
• Digital clubbing.
180 | Paediatrics
Intestinal Tract:
In 15-20% newborns with CF, the ileum is completely obstructed by meconium
(meconium ileus).
Abdominal distension, emesis and failure to pass meconium within first 24-48 hours
R117H and 3849 + 10 KBc → T: preservation of some exocrine pancreatic
function.
Other manifestations: Intussusception, fecal impaction of cecum. Acid or bile reflux. Sub
acute appendicitis rectal prolapse, deficiency of fat soluble vitamins.
Vitamin E deficiency: Neurologic dysfunction (dementia peripheral neuropathy) and
hemolytic anemia.
BILIARY TRACT: Biliary cirrhosis
Neonatal hepatitis like picture
Cholelithasis
PANCREAS: Diabetes especially after 10 year of age.
Genitourinary Tract:
• Sexual development delayed by 2 years.
• 95% of males azoospermic (adsence of vas deferens).
• Incidence of inguinal hernia, hydrocele, undescended testis is higher.
• Female fertility is diminished.
SWEAT GLANDS: Excessive loss of salt in sweat – Hypochloremic alkalosis.
• Genotype 3849 + 10 kbC → T associated with normal sweat chloride values.
Diagnosis:
Sweat test: standard approach to diagnosis.
For reliable results at least 75 mg and preferably 100mg of weat should be collected.
More than 60 mEq/L of chloride in diagnostic.
Non – CF conditions associated with elevated concentration of sweat electrolytes.
• Untreated adrenal insufficiency.
• Ectodermal dysplasia.
• Hereditary nephrogenic diabetes insipidus.
• Glucose – 6 – phosphatase deficiency.
• Hypothyroidism.
• Hypoparathyroidism.
• Familial cholestasis.
• Pancreatitis.
• Mucopolysaccharidoses.
• Fucosidosis.
• Malnutrition.
Diagnosed If:
Presence of typical clinical features (respiratory gastrointestinal or genitourinary).
or
A history of CF in a sibling
or
A positive newborn screening test
Plus
Laboratory evidence of CFTR dysfunction
{Two elevated sweat chloride concentrations obtained on separate days
or
Identification of two CF mutations
or
An abnormal nasal potential difference measurement}
The finding of increased potential difference actoss nasal epithelium, the loss of this
difference with topical amiloride application, and the absence of a voltage response
to a β – adrenergic agonist have been used to confirm the diagnosis in patients with
equivocal or frankly normal sweat chloride values.
Pancreatic function: Quantitation of elastase -1 activity in a fesh stool sample is a useful
screening test
Newborn Screening:
Determination of immunoreactive trypsinogen in blood spots coupled with confirmatory
sweat or DNA testing screening test is 95% sensitive
Treatment:
General:
• Immunoprophylaxis specifically against rubella, pertussis and influenza is essential to
maintain hydration.
• Goal is to maintain stable condition for prolonged periods.
Pulmonary Therapy:
• Objective is to clear secretions from airways and to control infection.
• Inhalation therapy;Bronchodilators, corticosteroids, anibioties, human recombinant
DNAase.
Chest physical therapy:
• Chest percussion combined with postural drainage.
Antibiotic therapy:
• Mainstay designed to control progression of lung infection.
Oral
• Usual course is 2 weeks or more, maximal doses are recommended.
• Quinolones are the only broadly effective oral antibioties for pscudomonas infection.
182 | Paediatrics
Aerosolized
• Inhaled tobramycin / Ticarcillin/ Colistin.
Intravenous
• At least 14 days.
Treatment of pseudomonas infection requires two drug therapy a third agent may be
required for optimal coverage of staph aureus and other organisms.
Anti-inflammatory agent.
Contriosteroids useful for.
Allergic bronchopulmonnary aspergilloisis.
Severe reactive airway disease.
Nutritional Therapy:
• Higher than normal caloric need.
• Pancreatic enzymes replacement should not exceed 2500 lipase units/kg/meal.
• Supplementation of fat soluble vitamins
NEW THERAPIES:Gene therapy.
NEW DRUGS: IVACAFTOR/LUMECAFTOR.
Worksheet
• MCQ OF “RESPIRATORY SYSTEM” FROM DQB

184 | Paediatrics
Active recall
10 Central Nervous System
CONCEPTS
Â Concept: 10.1 Neural Tube defects
Â Concept: 10.2 Microcephaly
Â Concept: 10.3 Hydrocephalus & Fontanel
abnormalities
Â Concept: 10.4 Craniosynostosis
Â Concept: 10.5 Seizures & Epilepsy
Â Concept: 10.6 Seizure mimics
Â Concept: 10.7 Infections
Â Concept: 10.8 Neurocutaneous syndromes
Â Concept: 10.9 Movement disorders
Â Concept: 10.10 Cerebral palsy
Â Concept: 10.11 AFP
Â Concept: 10.12 Coma
Â Concept: 10.13 Muscular dystrophy
Â Concept: 10.14 Floppy Infant
186 | Paediatrics
Concept 10.1: Neural Tube defects
Learning Objective: To understand the basic understanding of neural tube defects in
children
Time Needed
1 Reading
st
15 mins
2 Look
nd
05 mins
1. Neural Tube Defects (Dysraphism):

• Most common congenital anomaly of CNS.
• It is due to the failure of the neural tube to close spontaneously between 3rd & 4th wk
of in utero development.
• Failure of closure of neural tube allows excretion of fetal substance(eg αFP, AChE) into
amnioticfluid → biochemical markers for prenatal diagnosis.
• Major Defects
Spina bifida occulta
Meningocele
Myelomeningocele
Encephalocele
Anencephaly
Dermal sinus
Tethered cord
Syringomyelia
Diastematomyelia
Lipoma
A. Spina Bifida Occulta:

• Midline defects of vertebral bodies without protrusion of spinal cord / meninges.
• Defects in closure of posterior vertebral arches and lamina L5 - S1.
• Asymptomatic.
• No neurological sign.
• Patches of hair, lipoma, dermal sinus, skin discoloration.
Dermoid sinus - Small opening in skin indicated by protruding hair, hairy patches or
vascular naevus at site of occurrence of meningocele / encephalocele (LS region
/ occiput), pass through dura and act as conduit for spread of infection.
B. Meningocele:
• Formed when meninges herniate through defect in posterior veretebral arches.
• Spinal cord is usually normal.
• Fluctuant, transilluminant, midline mass usually in low back covered with skin.
• Rarely Ant. Meningocele → projects into pelvis.
• In females - associated anomalies of genital tract (RVF, Vaginal septae).
• Both sexes - Constipation and bladder dysfunction.
Central Nervous System | 187
Diagnosis:
• X-ray LS Spine (AP view).
• USG of LS Spine.
CT Scan with metrizamide along with NC CT of head.
• MRI
Treatment:
• CSF leak / thin skin covering: immediate surgery.
• Asymptomatic with normal CNS evaluation: delayed surgery.
C. Myelomeningocele:
• Most severe form.
• Risk rises with subsequent pregnancy (4% with one affected, 10% with two affected).
• ↓ incidence with Folic acid supplementation prior to conception continued till 12th
wk of conception.
Fig. 10.1
188 | Paediatrics
Concept 10.2: Microcephaly
Learning Objective: To understand the basic understanding of microcephaly in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Microcephaly:
• Most common site: LS region (75%).
• Low sacral - bowel and bladder incontinence with normal motor function.
• Mid.Lumbar - Flaccid paralysis of lower limbs with absent DTRs, bowel and bladder
abnormalities.
• Upper Thoracic / Cervical - no
• neurological deficit / hydrocephalus.
• Hydrocephalus (Arnold Chiari Type II) - 80% of all cases of meningomyelocele.
Treatment:
• MMC repair with shunt for hydrocephalus.
• Head circumference measures > 3 S.D. below the mean for age & sex.
Causes Primary / Genetic:
• Familial (AR).
• Autosomal dominant.
• Syndromes.
• Down’s (21 trisomy).
• Edward (Trisomy 18)-Microstomia, Micrognathia,low set malformed ears, rocker
bottom feet,CHD.
• Cri - du - chat (5 p) - Round facies, prominent epicanthic folds, low set ears,
hypertelorism.
• Cornelia de Lange - Prenatal and postnatal growth delays, thin down- turning upper
lip,proximally placed thumb.
Secondary:
1. Radiation.
2. Congenital infections.
CMV - SFD, Petechial rash, hepatosplenomegaly, chorioretinitis, deafness, MR
seizures CNS Calcification and Microgyria.
Rubella - IUGR, purpura, thrombocytopenia, hepatosplenomegaly, CHD,
chorioretinitis, cataract, deafness.
▫ Perivascular necrotic area, polymicrosyria, subependymal cantation.
Toxoplasmosis - Purpura, hepatosplenomegaly, jaundice, chorioretinitis, cerebral
calcification.
3. Drugs -Fetal alcohol - IUGR,absent philtrum and hypoplastic upper lip,CHD,neurological
heterotopia.
Fetal hydantoin - hypoplasia of distal phalanges, inner-epicanthic folds, broad
nasalbridge, antiverted nostrils.
4. Meningitis / encephalitis.
5. Malnutrition.
6. Metabolic - Maternal diabetes mellitus and hyperphenylalaninemia.
7. HIE
190 | Paediatrics
Concept 10.3: Hydrocephalus & Fontanel abnormalities
Learning Objective: To understand the basic understanding of hydrocephalus &
fontanel abnormalities in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Hydrocephalus:
CSF production:
• Choroid plexus (75%) - Lateral, III and IV ventricles.
• Extrachoroidal (25%) - Capillary endothelium in brain parenchyma.
• Rate of CSF production - 20ml / hr.
• CSF volume in infants - 50ml and in adults - 150ml.
Lateral ventricle
A ↓ Foramen of Monro
Third ventricle
B ↓ Aqueduct of sylvius (3mm x 2mm)
Fourth ventricle
C ↓ Foramen of Luschka and Magendie
Basal cisterns
↓
Absorbed by arachnoid villi, lympha
Two type of Hydrocephalus:

A. Obstructive / Non communicating:
• Results from obstruction within ventricular system (A → C).
a) Aqueductal stenosis: Most common
:G enetic: sex linked recessive - Multiple cafe au lait spots.
: Infection: intrauterine viral infectio.
b) Aqueductal gliosis: Neonatal meningitis.
:S ubarachnoid haemorrhage in Premature infants.
c) Vein of Galen malformation.
d) Posterior Fossa tumor.
e) Arnold Chiari malformation.
f) Dandy Walker Syndrome.
B. Non obstructing / Communicating:

• Results from obliteration of the subarachnoid cisterns or malfunction of arachnoid
villi.
a) Sub arachnoid haemorrhage - result of IVH in premature infants
b) Pneumococcal meningitis / TBM.
c) Leukemic infiltrates.
Clinical Features:
• Most prominent sign - accelerated rate of enlargement of head.
• AF wide open and bulging.
• Setting - sun sign (due to impingement of the dilated suprapineal recess on the
tectum).
• Long tract signs (brisk DTRs, ankle clonus, Spasticity, Babinski sign).
• Irritability, lethargy, poor feeding, vomiting.
• Headache.
• Mac Ewen’s sign / Cracked pot sign.
VI nerve palsy.
Papilledema rare in infants.
Fig. 10.2: Hydrocephalus with sunset sign
Malformations Associated with Hydrocephalus:

Arnold Chiari malformation - Foreshortened occiput.
Type I-Displacement of cerebellar tonsils into cervical canal.
• Symptomatic during adolescent / adult life.
• Not associated with hydrocephalus.
• Recurrent headache, urinary frequency, neck pain and lower extremity spasticity.
Type II- Elongation of IV ventricle and kinking of brain stem with displacement of
inferior vermis, ponsand medulla into the cervical canal.
192 | Paediatrics
• 10% symptomatic during infancy.
• Associated with progressive hydrocephalus and meningomyelocele.
• Spasticity and incoordination.
Dandy Walker Syndrome - Prominent occiput.
• Cystic expansion of IV ventricle in the posterior fossa, which results from a
developmental failure of the roof of the IV ventricle during embryogenesis.
• Long tract signs, cerebellar ataxia.
• Delayed motor and cognitive milestone.
Diagnosis
• Xray Skull (AP view): beaten - silver appearance.
• USG Cranium.
• CT Scan and / MRI.
Management
• Medical: Acetazolamide and Furosemide.
• Surgical: V-P shunt - Most common complication is infection associated with Staph.
Epidermidis.
Causes of enlarged skull other than hydrocephalus (> 2 S.D.of the mean for age
& sex).
1. Chronic severe anemia.
2. Rickets.
3. Osteogenesis imperfecta.
4. Epiphyseal dysplasia.
5. Chronic subdural hematoma.
6. Storage disorders - Tay Sach’s, Gangliosidosis, Mucopolysaccharidosis.
7. Aminoacidurias (MSUD).
8. Leukodystrophy (Metachromatic, Alexander disease, Canavan disease).
9. Familial - AD.
10. Cerebral gigantism.
Delayed closure of AF (12 - 18 m)
1. Marasmus.
2. Rickets.
3. Hydrocephalus.
4. Cretinism.
5. Down’s Syndrome.
6. Mucopolysaccharidosis.
7. Congenital Syphilis.
8. Thalessemia major.
9. Osteogenesis imperfect.
10. Cleidocranial dysostosis.
11. Pituitary dwarf.
12. Apert’s syndrome.
13. Achondroplasia.
14. Trisomy 13 and 18.
15. Zellweger’s Syndrome.
Fig. 10.3
Causes of Bulging AF:

1. Crying infant.
2. Raised ICT (Meningitis, IVH, Tumor, Pseudotumor cerebri).
3. Hydrocephalus.
194 | Paediatrics
Concept 10.4: Craniosynostosis
Learning Objective: To understand the basic understanding of craniosynostosis in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Craniosynostosis:
Premature closure of cranial sutures
• Primary - It is closure of one or more sutures due to abnormalities of skull development.
• Secondary - It results from failure of brain growth and expansion.
Forms
Scaphocephaly - Most common
Premature closure of
sagittal suture
Frontal plagiocephaly - P
remature fusion
of a Coronal and
Sphenofrontal
suture
Occipital - Lambdoid suture
plagiocephaly
Trigonocephaly - Metopic suture
Turricephaly -C
oronal, fronto
ethmoidal and
sphenofrontal
sutures
Management
• Surgical - for ↑ ICT.
• for cosmetic purpose.
Fig. 10.4
196 | Paediatrics
Concept 10.5: Seizures & Epilepsy
Learning Objective: To understand the basic understanding of seizures and epilepsy
in children
Time Needed
1 Reading
st
20 mins
2 Look
nd
10 mins
Seizures:
• Defined as a paroxysmal involuntary disturbance of brain function that may manifest
as an impairmentorloss of conciousness, abnormal motor activity, behavioural
abnormalities, sensory disturbances or autonomic dysfunction.
• Epilepsy is defined as recurrent seizures unrelated to fever or to acute cerebral
insult.
Seizure Classification.
1. Generalized Tonic Clonic Atonic Myoclonic Tonic-Clonic
2. Partial:
Simple partial Complex partial
Secondary generalization
3. Unclassified Absence seizures Infantile spasms
Causes of Seizures in children:

A. Primary/Idiopathic
B. Secondary:
• Trauma.
• Infections.
• Sequelae of brain damage.
• Toxins.
• Encephalopathies.
• Syndromes.
• Degenerative brain disorders.
• Childhood stroke.
• Fever associated.
Most Common:
D1 - Birth Asphyxia.
D2, D3 - Hypoglycemia. D4-7 - Tetany.
1 month - 3 yr - Simple Febrile seizure.
Rasmussen Encephalitis:
• Subacute inflammatory encephalitis.
• < 10 yrs.
• Epilepsa partialis continum.
• Hemiplegia, hemianopsia, aphasia.
• EEG: Diffuse paroxysmal activity with a slow background.
Benign Partial Epilepsy with Centro Temporal Spikes

(Rolandic Epilepsy):
• 2 - 14 yrs (peak 9-10 yrs).
• Family history of epilepsy.
• No neurological deficit.
• Often confined to face.
• Occurs in sleep in 75%.
• EEG: repetitive spike focus localised in centrotemporal or rolandic area with a normal
background activity.
Treatment:
• Only if frequent seizures.
• DOC: Carbamazepine.
Absence Seizure:
Typical (Petit Mal)
• > 5 yrs.
• F > M.
• No AURA.
• Not more than 30 sec.
• No postictal state.
• EEG: 3/sec spike and slow wave pattern
DOC: Ethosuximide: Now available in India.
Atypical absence seizure.

• Myoclonic component.
• Loss of body tone.
• DOC: Na. Valproate (Ethosuximide is not very effective in atypical absence seizures).
Myoclonic Epilepsies of Childhood:

• Repetitive seizures consisting of brief, often symmetric muscular contractions with
loss of body tone and slumping forward.
Benign Myoclonus of Infancy:
• Clusters of myoclonic movements confined to the neck, trunk and extremities.
• EEG is normal.
• Cessation by 2 yrs age.
• No AED required.
198 | Paediatrics
Typical Myoclonic Epilepsy of Early Childhood:
• Onset 6 months - 4yrs (mean: 2 1/2 yrs).
• Febrile convulsions or GTCS may precede onset.
• Family history of epilepsy in 33% cases.
• > 50% seizure free several years later.
• Learning and language problems and behaviour problems in significant no. of cases.
• EEG: Fast spike wave complexes of ≥ 2.5 Hz associated with normal background.
Fig. 10.5
Complex Myoclonic Epilepsies:
• Onset 1st yr of life.
• Preceded by focal / GTCS.
• 1/3 have delayed milestones.
Juvenile Myoclonic Epilepsy:
• Gene locus on chromosome 6p.
• Frequent myoclonus on awakening.
• History of HIE + UMN and EP signs and microcephaly.
• Lennox Gastaut Syndrome: combination of frequent myoclonic & tonic seizure
associated with interictal slow spike wave on EEG.
• Persistent with MR in 75% patients.
• Later on early morning GTCS.
• EEG: 4 - 6 / sec irregular spike wave pattern enhanced on photic stimulation DOC:
Valproate.
Lafora Disease:
• Progressive myoclonic Epilepsy.
• AR.
• Onset: 10 - 18 yrs.
• GTCS → myoclonic jerks.
• MR in all cases.
• Cerebellar & extrapyramidal signs.
Diagnosis:
• EEG: polyspike wave discharges in occipital region.
• Skin Biopsy: for PAS (+) inclusion in eccrine sweat glands.
Treatment:
• Na. Valproate + Clonazepam.
Infantile Spasms
• Onset 4 months - 8 months.
• Brief symmetric contraction of head, trunk & extremities.
• Flexor spasm (Salaam seizures).
• Extensor spasm.
• Mixed.
• Occurs during sleep or arousal.
• EEG: hypsarrhythmia - chaotic pattern of high voltage, bilaterally synchronous slow
wave activity.
200 | Paediatrics
Fig. 10.6
Infantile Spasm:
Cryptogenic Symptomatic
(20%) (80%)
No significant antenatal or intranatal or post natal HIE, congenital infections
history.
Development normal. IEM, neurocutaneous syndrome (Tuberous Sclerosis)
CNS normal Prematurity ; CNS infection, head trauma.
Good prognosis MR in 80 - 90% cases.
Abnormal CNS examination.
DOC : ACTH> Vigabatrin
: Clonazepam, Nitrazepam and Prednisolone may be used.
Landau Kleffner Syndrome (LKS):
• M > F.
• Mean age of onset: 5.5 yrs.
• Seizure disorder.
• Loss of language skills with normal hearing.
• Behavioural problem.
• EEG: High amplitude spike and wave discharges, bitemporal (non - REM sleep).
• DOC: Na Valproate.
Work up for First episode of Afebrile Seizures:
• Glucose (F).
• S. Ca2+.
• S. Mg2+ Na+.
• S. Electrolyte.
K+
• EEG (interictal EEG may be normal in 40%).
Imaging of choice – MRI.
DO NOT START AED FOR FIRST EPISODE OF AFEBRILE SEIZURE WITH NORMAL EEG OR
SECOND SEIZURE > 6 MONTHS LATER.
First Line Aed For Unclassified Afebrile Seizure:
Na. Valproate
CBC
SGOT Weekly SGPT
Carbamazepine
Third line : Phenytoin
: Phenobarbitaone
: Clobazam
: Lamotrigine
: Gabapentin
: Vigabatrin
Duration of treatment: 2 yrs after seizure free.
Febrile Seizure:
• Most common seizure disorder during childhood.
• 6 months - 5 yrs (Peak 14 - 18 months).
• Family history of seizure.
• Develops when core temperature reaches > 39 degrees C.
• Lasting > 15 min suggests an organic cause / toxic process.
Causes:
• Viral URI.
• Roseola.
• ASOM.
• Meningitis.
• 50% have recurrent febrile seizure.
• EEG not warranted for typical febrile seizure. Required only if Atypical seizure / Risk
factors present.
• Rarely develops into epilepsy.
Atypical Febrile Seizure:
• Seizure > 15 min.
• Repeated convulsion for several hours / days (2 episodes/day).
• Focal seizure.
202 | Paediatrics
Risk factors for development of epilepsy in febrile seizures:
• Family history of seizure.
• Onset < 9 months.
• Prolonged (atypical febrile seizure).
• Developmental delay.
• Abnormal neurological examination.
Treatment:
• Antipyretics are mainstay of treatment in febrile seizure, with IV BZD given to abort
an acute episode of seizure.
• Oral diazepam (1mg / kg / 24hrs) administered for 2-3 days at the onset of febrile
illness is prophylaxis of choice (known as Intermittent Prophylaxis).
• Prolonged anticonvulsant prophylaxis for prevention of recurrent febrile seizures is
nolonger recommended.
Status Epilepticus:
Continuous convulsions lasting more than 30 min or occurence of serial convulsions
between which there is no return to consciousness.
The ILAE revised its definition of SE in 2015, and the revised definition incorporates both
of these time points. Specifically, SE is defined by the ILAE as:
• A condition resulting either from the failure of the mechanisms responsible for seizure
termination or from the initiation of mechanisms that lead to abnormally prolonged
seizures (after time point t1); and
• A condition that can have long-term consequences (after time point t2), including
neuronal death, neuronal injury, and alteration of neuronal networks, depending on
the type and duration of seizures
For generalized convulsive SE, the ILAE definition stipulates that t1 and t2 are 5 and
30 minutes, respectively. The five-minute window corresponds with the time at which
urgent treatment should be initiated. At least one study has found that a convulsive
seizure lasting more than 5 minutes has a high risk of lasting 30 minutes or more. Also,
treatment delay is associated with delayed treatment response.
For other types of SE, the most appropriate time intervals for t1 and t2 have not been
well defined, particularly for nonconvulsive forms of SE. The ILAE suggests using a t1
and t2 of 10 and >60 minutes for focal SE with impaired consciousness, and a t1 of 10
to 15 minutes for absence SE.
3 major subtypes
• Prolonged febrile seizures (most common).
• Idiopathic status epilepticus (epileptic patients on sudden withdrawal of AED).
• Symptomatic status epilepticus.
HIE.
Congenital malformation of brain.
Inborn errors of metabolism.
Dyselectrolytemia.
Hypoglycemia.
Hypocalcemia.
Reye’s syndrome.
Drug / lead intoxication.
Brain tumor (frontal lobe).
Pathophysiology:
• Cell death occurs after 60 min of constant seizure in well-ventilated animals
(Transitional period 20 min - 60 min).
• Most vulnerable areas of brain.
Hippocampus.
Amygdala.
Cerebellum.
Middle cortical areas.
Thalamus.
• Prolonged seizure causes.
Lactic acidosis.
Hypoglycemia.
Myoglobinuria.
Raised ICT.
Management:
• Secure Airway, Breathing, Circulation (A, B, C).
• Blood for CBC, electrolytes, glucose, calcium and magnesium.
• Give 2ml / kg of a 50% Dextrose i.v. bolus if hypoglycemia.
• I/V Lorazepam 0.1mg / kg stat (@ 2mg / min.) or Diazepam 0.3mg / kg stat (@
1mg / min) followed by
Loading Dilantin (Phenytoin) 20 mg / kg stat.
↓ No response even after 15 minutes.
Loading Phenobarbitone 15mg / kg stat.
↓ No response even after 15 minutes.
Midazolam drip 0.2mg / kg stat then 0.2mg / kg / hr. Increase by 0.1mg / kg max.
upto 2mg/kg/hr.
Alternatively Diazepam drip 2-3 mg / hr.
↓ No respose
Pentobarbitone
Loading 3-5mg / kg followed by 2-3mg / kg / hr [ Ventilation, BP, Electrolyte ]
↓ Burst suppression EEG x 48 hrs → stop Pentobarbitone.
GA. (Halothane)
204 | Paediatrics
Concept 10.6: Seizure mimics
Learning Objective: To understand the basic understanding of seizure mimics in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Conditions That Mimic Seizures:

Benign Paroxysmal Vertigo:
• Rare beyond 3 yrs of age.
• Sudden.
• Associated with ataxia, refusal to walk or sit.
• Horizontal nystagmus.
• No loss of consciousness.
• Develop migraine and motion sickness.
• Abnormal vestibular function detected on ice water caloric testing.
DOC: Dimenhydrinate.
Night Terrors:
• M > F.
• 5 - 7 yrs of age.
• Occurs during stage 3/4 of NREM sleep.
• Tachycardia, hyperventilation, dilated pupils.
• Total amnesia the following morning.
• 1/3 develop somnabulism.
DOC: Short course. Diazepam.
Syncope:
Simple Syncope:
• Follows decreased cerebral blood flow secondary to systemic hypertension.
• Vaso-vagal stimulation.
• Uncommon prior to 10 - 12 yrs.
• Adolescent female.
• There may be brief tonic contractions of muscles of face, trunk and extremities in
50%.
Treatment:
• Oral β. Blockers.
Cough Syncope:
• Most common in asthmatic children.
• Occurs short after onset of sleep.
• Bout of coughing.
↓
Vertical upward gaze,
clonic muscle contraction.
↓
Flaccidity.
↓
Loss of consciousness.
Prolonged QT Syndrome:
• Sudden loss of conciousness during exercise / emotional stress.
• Onset in late childhood / adolescence.
• QT interical > 0.48 sec.
• Variety arrhythmias including VF occurs.
2 Types
• Congenital - Autosomal Dominant/Recessive.
• Acquired - Myocarditis
- Mitral valve prolapse
- Drug induced
Treatment:
• β - blockers.
Pseudo Seizures:
• F > M.
• Past history of epilepsy.
• Lack of cyanosis, normal reaction of pupils to light, no loss of sphincter control,
normalplanter responses.
• EEG is normal but may have excess of muscle artifact.
• Serum prolactin level normal .
206 | Paediatrics
Concept 10.7: Infections
Learning Objective: To understand the basic understanding of infections of CNS in
children
Time Needed
1 Reading
st
15 mins
2 Look
nd
10 mins
Infections of the CNS:

Meningitis - Primary involvement of meninges.
Encephalitis - P
rimary involvement of brain parenchyma.
Acute Bacterial Meningitis:

Etiology:
Age group Common Causative Organism Drugs of Choice
< 2 months Gram negative bacilli Ampicillin + Ceftriaxone orCefotaxime
Group B streptococci
Listeria monocytogenes
2 months - 2 yrs H. influenzae type B Ceftriaxone / Cefotaxime
2 yrs - 12 yrs Streptococcus pneumoniae Ceftriaxone / Cefotaxime
Neisseria meningitidis (CP + Chloro)
• 95 % cases occur between 1 month to 5 yrs.

• Defects of complement system C5-8 and properdin system predispose to
meningococcal infection.
• Sickle cell dysfunction / asplenia → Pneumococcal infection.
• T- lymphocyte defects (eg AIDS / Chemotherapy) → Listeria monocytogenes.
• Congenital / acquired defects across mucocutaneous barrier → Pneumococci.
• Lumbosacral meningomyelocele and dermal sinus → Staph. & enteric bacteria.
• Penetrating CNS trauma / CSF shunt infections → Coagulase negative staph.
C/F:
• Fever (90-95 %).
• Anorexia & poor feeding.
• Petechiae / purpura / erythematous macular rash.
• Tachycardia, hypertension.
• Signs of meningial irritation.
Nuchal rigidity.
Kernig’s sign.
Brudzinski’s sign.
may not be apparent in child < 12 - 18 months.
• Vomiting.
• Bulging AF, sutural diastasis.
• III, IV cranial nerve palsy . Also VI, VII and VIII.
• Dystonic posturing.
• Papilledema suggestive of chronic process- brain abscess, subdural empyema etc.
• Seizures.
• Photophobia.
• Tachy cerebrale - Stroking skin with a blunt object and observing a red raised streak
within 30-60 sec.
Complications:
• Seizures are MC acute complication
• Sensorineural hearing loss is MC long term complication/sequel.
• Cranial nerve palsy
• Stroke
• Cerebral / Cerebellar herniation
• Subdural effusion (10 - 30 %) → H. influenzae b.
• SIADH.
Diagnosis:
• Lumbar puncture for CSF.
Cytological analysis.
Biochemical analysis.
Gram stain.
Latex agglutination.
Culture.
• Contraindication to L.P.
↑ ICT.
Severe cardio pulmonary compromise.
Thrombocytopenia.
• Blood culture.
Empirical Antibiotic Of choice: 3rd Generation cephalosporins. Duration minimum 3
weeks.
Supportive Therapy:
• Restricted IV fluids (1/2 to 2/3 maintenance fluid).
• Lower ↑ ICT.
Furosemide i/v.
Mannitol.
Hyperventilation.
Raise head end to 45 degrees.
208 | Paediatrics
• Seizures → Phenytoin.
• Dexamethasone iv. (max. benefit if given just before antibiotics).
Less fever.
Lower CSF protein.
Reduction in permanent auditory nerve damage.
• Rifampicin prophylaxis for all household contacts of child with H. influenzae type a.
and close contacts of child with N. Meningitidis.
Most common neurologic sequelae → Sensorineural hearing loss (More common with
Pneumococcus & H. influenza) (due to labrynthitis following cochlear infection).
Tubercular Meningitis:
• Secondary to T.B. elsewhere in body. (Most often to primary complex).
• Commonest form of neurotuberculosis is acute inflammatory caseous meningitis.
• Highest incidence in first 3yrs of life (6month - 3yrs).
C/F:
• Prodromal period: 2 -3 weeks.
• Irritability, headache, loss of appetite, restlessness at night, nausea, vomiting.
• Onset - Fever (not more than 101 - 102° F).
Headache.
Vomiting.
Seizures.
Focal neurological deficit (Ocular nerve palsy, monoparesis / hemiparesis).
↑ ICT
Fundus examination shows pallor of optic disc leading to primary optic atrophy.
Staging of TBM:
Stage I - No definite neurological symptoms at admission.
Stage II - Signs of meningitis, drowsiness, lethargy, cranial nerve, convulsions.
Stage III - Severe clouding of consciousness, stupor or coma, gross paresis or paralysis.
Diagnosis:
• Mantoux and BCG.
• X-ray chest.
• CSF examination. CSF culture using BACTEC system using Middle brook.
• CSF ELISA.
• PCR for Tuberculosis.
• Gas Liquid Chromatography linked to mass spectroscopy.
• Tuberculostearic Acid Assay - sensitivity 95%, specificity 91-99%.
• CECT cranium: Basal exudates are radiological hallmark, gyral enhancements,
hydrocephalus, tuberculoma, infarct.
Treatment:
• 2 HRZE (can be extended by 1 month) + 10 HRE.
• Dexamethasone is recommended during the entire intensive phase.
Tuberculoma:
• Single / multiple tumor like mass of granulomatous tissue which produces effect of
a SOL.
• 1/3 of patients are <10 year old.
• Most common site - post. fossa (cerebellar hemisphere).
• May be independent / in conjunction with TBM.
• CECT shows either a uniform contrast enhancement or a peripheral enhance
mentsurrounding a central clearing. Calcification.
Viral Meningoencephalitis:
• Enteroviruses (80%).
• Arbovirus.
• Herpesvirus.
• Mumps.
Brain Abscess:
• Most common between 4 - 8 yrs.
Causes:
• Congenital cyanotic heart disease (TOF).
• Meningitis.
• CSOM and mastoiditis.
• Infection of VP shunt.
• Most common sites - frontal, parietal, temporal.
• 30 % multiple.
Etiology:
• Staph. Aureus.
• Anaerobes.
• Gram negative bacilli.
Diagnosis:
• LP withhold.
• CT / MR.
Treatment:
• Vancomycin +3rd generation Cephalosporin and Metronidazole.
• Surgery indicated if.
(a) Gas.
(b) multiloculated.
(c) Post fossa.
(d) fungal
210 | Paediatrics
Concept 10.8: Neurocutaneous syndromes
Learning Objective: To understand the basic understanding of neurocutaneous
syndromes in children
Time Needed
1 Reading
st
15 mins
2 Look
nd
05 mins
Neurocutaneous
Syndromes:
1 Neurofibromatosis.
2 Tuberous sclerosis.
3 Struge Weber Syndrome.
4 Von - Hippel Landau Syndrome.
5 Ataxia Telengectasia.
6 Linear naevus syndrome.
7 Hypomelanosis of Ito.
8 Incontinentia pigmenti.
Neurofibromatosis:
• AD.
• NF - 1 most prevalent.
• Criteria: (if any 2 are present).
a) Atleast 5 cafe-au-lait spots > 5 mm in diameter in prepubertal / atleast 6 cafe-au-
lait spots> 5mm in diameter in post pubertalPredilection for trunk & extremities.
b) Axillary / Inguinal freckling.
c) Two or more Iris Lisch Nodules.
d) Two or more neurofibroma or a plexiform neurofibroma.
e) Distinctive osseus lesion - kyphoscoliosis in 40%.
f) Optic gliomas.
g) First degree relative with NF - 1 whose diagnosis was based on
aforementionedcriteria.
Fig. 10.7
Complication:
• Learning disabilities.
• Attention deficit disorder.
• Seizures.
• Malignant neoplasms (Pheochromocytoma, Leukemia, Wilm’s tumor, Optic glioma,
Meningioma,Astrocytoma).
Most distinctive feature of NF - 2: Bilateral acoustic neuroma.
Tuberous Sclerosis:
• AD inheritance.
• Tubers are located in subependymal region of cerebral hemisphere →” Candle dripping
appearance “.
C/F:
• Infantile spasm.
Fig. 10.8
212 | Paediatrics
• Skin on trunk and extremities show hypopigmented lesion having Ash leaf appearance
which can be seenusing Wood’s ultraviolet lamp.
• Sebaceous adenomas over nose & cheek
• Shagreen patch over lumbosacral region
• Retinal lesion : • Mulberry tumor
• Phakoma
Sturge Weber Syndrome:

• Port wine stain (restricted to one side of the face: mostly involving area supplied by
ophthalmic division of trigeminal nerve).
• Hemiplegia.
• Intracranial calcification (Rail Road/Tram Track appearance).
• Seizures: Focal.
• Mental retardation.
Fig. 10.9
Concept 10.9: Movement disorders
Learning Objective: To understand the basic understanding of movement disorders in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Movement Disorders:
1. Ataxia:
Causes: Congenital.
a) Arnold Chiari, Dandy Walker, Encephalocele.
b) Agenesis of cerebellar vermis.
Infections
a) Cerebellar abscess.
b) Acute Labyrinthitis.
c) Acute cerebellar ataxia.
Toxic
a) Alcohol.
b) Thallium.
c) Dilantin.
Brain tuor
a) Cerebellar.
b) Frontal lobe.
c) Neuroblastoma.
Metabolic
a) Abetalipoproteinemia.
Degenerative
a) Ataxia telengectasia.
b) Friedreich’s ataxia.
Ataxia telengectasia:
• AR.
• Begins by 2yrs.
• Oculomotor apraxia.
• Horizontal nystagmus.
• Telangiectasia over bulbar conjunctiva, bridge of nose and ears.
• Decreased immunity.
• 50% higher risk of developing lympho-reticular and brain tumors.
214 | Paediatrics
Friedreich’s ataxia:
• AR / AD.
• Onset prior to 10yrs.
• Involves lower extremities.
• Explosive, dysarthric speech.
• Nystagmus.
• Pes Cavus, hammer toes.
Chorea:
Syndenham’s chorea
• Most common acquired chorea of childhood.
• Sole neurologic manifestation of Rheumatic fever.
• Chorea - Symmetric, prominent in face, trunk and distal extremities.
Hypotonia.
Emotional lability.
Signs
• Milk maid’s grip.
• Choreic hand.
• Darting tongue.
• Pronator sign.
TICS:
• Spasmodic, involuntary, repetitive, stereotype movements that are often
exacerbated by stress.
• 3 types
Transient tics of childhood: Most common. Eye blinking, facial movement, throat
clearing.
Chronic motor tic disorder: Persists, involves upto 3 muscle groups simultaneously.
Gilles de la Tourette syndrome: Onset 2 - 21yrs.
Motor tics
Vocal tics
Obsessive compulsive disorder
Attention deficit hyperactivity disorder.
Treatment:
Haloperidol.
Concept 10.10: Cerebral palsy
Learning Objective: To understand the basic understanding of cerebral palsy in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Cerebral Palsy:
Definition: A group of non progressive but often changing motor impairment syndrome
secondaryto lesions or anomalies of brain arising in its early stages of development.
Causes:
• 18% genetic.
• 65% perinatal (eg anoxia).
• 10% postnatal (eg toxin, trauma, infection).
• 7% unknown.
Classification
Physiologic Topographic
Spastic Monoplegia
Athetoid Paraplegia
Rigid Hemiplegia
Ataxic Triplegia
Tremor Quadriplegic
Atonic Diplegia
Mixed Double hemiplegia
Unclassified
• Most common form of CP: Spastic CP.
• Most common form of CP associated with hydrocephalus: Ataxic CP.
• Commonest cause of congenital hemiplegia → infarction / porencephalic cyst in the
region of middle cerebral artery.
• Form of CP associated with Kernicterus: Athetoid CP.
• Form of CP commonly associated with Prematurity: Spastic diplegia (Periventricular.
• leukomalacia, periventricular hemorrhagic infarction.
• Type of CP which presents late (only after 2 yrs): Athetoid CP.
• Type of CP least associated with seizures: Athetoid CP.
216 | Paediatrics
Concept 10.11: AFP
Learning Objective: To understand the basic understanding of AFP in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Acute Flaccid Paralysis:

AFP: Paralysis of acute onset (< 4 weeks); affected limb(s) are flaccid; ↓ Tone.
Causes:
• Acute poliomyelitis due to wild poliovirus
• Non polio enterovirus (NPEV) Coxsackie, Echo.
• Guillain Barre’s Syndrome.
• Myelitis: Transverse, Ascending.
• Spinal cord tumor.
• Traumatic neuritis.
Pseudoparalysis:
• Osteomyelitis.
• Synovitis.
• Trauma.
• Scurvy.
• Syphilis.
• Acute Rheumatic Fever.
• Hypokalemia, hyperkalemia.
Poliomyelitis:
• Polio → Enterovirus.
• 3 types → Leon, Lansing, Brunhilde.
• Type 1 is commonest cause of paralytic polio.
• Vaccine induced polio → Type 2, 3.
• Highest incidence of Polio → June to September.
• 95% cases →< 5yrs.
• Median age in India → 18 months.
• Affects anterior horn cells of the spinal cord and brain stem.
• Inapparent infection in 90 - 95% of those infected.
C/F:
• Prodrome.
• Major illness → headache, vomiting, hyperaesthesia or paraesthesia of limbs,
nuchalrigidity, Limitation of straight leg raising, tripod sign, neck drop, rope sign,
paradoxical diaphragm.
• Paralysis follows on D3 / D4 of major illness .
• First sign → loss of DTRs in affected limb
• Paralysis may progress for 7 days.
• Live virus excreted in stool for upto 6 weeks.
• Lower limb involved twice as frequently as upper limb.
• Most commonly involved muscle in lower limb → quadriceps.
• Most commonly involved muscle in upper limb → deltoid.
• Most common muscle prone to complete paralysis → Tibialis anterior.
• Muscle group which are commonly spared → Intrinsic muscle of foot
Long flexor of hand.
• Paralysis is asymmetric and spotty.
Forms of Paralytic Polio:

1. Pure spinal Poliomyelitis with respiratory insufficiency.
2. Pure bulbar poliomyelitis.
3. Bulbospinal poliomyelitis with respiratory insufficiency.
4. Encephalitic form.
Most common cause of death in Polio → Respiratory muscle paralysis.
218 | Paediatrics
Concept 10.12: Coma
Learning Objective: To understand the basic understanding of coma in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Coma In Childhood:
Etiology Symptoms / Signs Diagnosis
Intoxication
Salicylism Hyperventilation, dehydration, Metabolic acidosis,
Seizures Ketonuria, urine ferric chloride
(burgundy color)
Barbiturates Hypoventilation, pin point pupils ↑ Serum phenobarbital level
(> 30 ug /ml)
Hyperglycemia
Diabetes mellitus Hyperventilation, fruity odor Glycosuria, ketonemia, ketonuria,
metabolic acidosis hyperosmolality
Head injury External injury of trauma (Battle Glycosuria, no ketonemia or ketonuria
sign)
Encephalopathy
Reye’s Syndrome
Hemolytic uremic Irritability, pallor, purpura, Decreased Hb, decreased platelets,
Syndrome Oliguria, seizures fragmented RBC, hematuria, Renal
failure
Lead Vomiting, abdominal pain, ataxia, S. Lead > 100 ug / dl
seizures
Hypertensive
In born Error of Metabolism
Electrolyte abnormalities
Concept 10.13: Muscular dystrophy
Learning Objective: To understand the basic understanding of muscular dystrophy in
children
Time Needed
1 Reading
st
10 mins
2 Reading
nd
05 mins
Muscular Dystrophy
Name Inheritance Characteristic Laboratory
Features Diagnosis
Duchenne muscular X linked recessive • Pseudohypertrophy of calf 1. Serum creatinine kinase
dystrophy (m.c.) muscle and wasting of thigh greatly elevated
• Gower’s sign - 5 to 6 yrs of age 2. Muscle biopsy - vastus
lateralis & gastrocnemius
• Trendelenburg gait
• Poor head control in infancy 3. Analysis of dystrophin
first sign of weakness by Westernblot analysis or
immunohisto- chemistry
• Intellectual impairment
Becker muscular X linked recessive Later onset
Dystrophy
Emery - Dreifuss X linked recessive • Contraction of elbow and ankle Serum CK is Normal
Muscular dystrophy
(Scapulo humeral or • Intellectual function normal

scapuloperoneal
muscular dystrophy)
Myotonic muscular Autosomal dominant • Skeletal and smooth muscle 1. Classic myotonic
Dystrophy (Chromosome 19 at both are affected EMG
19q 13 locus)
• Characteristic facies inverted V 2. Serum CK is Normal or
shaped Upper lip, thin cheek, mildly
scalloped concave temporalis, Elevated
high arch palate
• Progressive wasting of distal
muscle. Later proximal muscles
also involved
• Myotonia after 5 yrs
Testicular atrophy
Cataracts
Cardiac involvement (arrhythmias
heart block)
220 | Paediatrics
Concept 10.14: Floppy Infant
Learning Objective: To understand the basic understanding of floppy infants in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Floppy Infant:
Causes:
I. General disorders:
• Inborn errors of amino acid, organic acid & mucopolyssacharide metabolism.
• Hypercalcemia.
• Hypokalemia.
• Hypothyroidism.
• Connective tissue disorder (Ehler - Danlos Syndrome, Osteogenesis imperfecta).
II. Central nervous disease:
• Cerebral palsy.
• Mental retardation.
• Down’s Syndrome.
III. Neuromuscular:
• Spinal muscular atrophy.
• Peripheral neuropathy.
• Poliomyelitis.
• Congenital myopathies.
• Central core disease.
• Myotubular myopathy.
• Nemaline rod myopathy.
• Congenital fiber type disproportion.
• Glycogen storage disease (Pompi’s disease).
• Lipid myopathy.
• Polymyositis.
• Myasthenia gravis.
IV. Prader - Willi Syndrome:
SPINAL MUSCULAR ATROPHY: Degenerative disease of motor neuron. Inheritance
is AR.
Types:
SMA Type I W erdnig - Hoftmann disease (severe infantile)
SMA Type II Late infantile form
SMA Type III K
ugel berg - Welander disease (mildest) (juvenile form)
SMA Type IV F azio - Londe disease
SMA Type I:
• Severe hypotonia.
• Absent DTRs.
• Involvement of tongue, face and jaw muscles.
• Sparing of extraocular muscles and sphincters.
Fasciculations are a specific clinical signs
Serum CK is normal or mildly elevated.
NCV is normal.
EMG shows fibrillation potentials and other signs of denervation .
X Tetanus:
• Most common form is neonatal tetanus.
• Also called 7th day disease.
• Incubation period 2 - 14 days (as long as month).
C/F:
• Headache, restlessness, untability.
• Trismus.
• Risus sardonicus.
• Ophisthotonus.
Localised tetanus results in painful spasms of muscles adjacent to wound site
Cephalic tetanus - Localised tetanus involving bulbar musculature that occurs with
wounds, foreign in head & neck region, CSOM.
Treatment:
• Tetanus immunoglobulin (TIG) - 500 iu i.m. single injection.
• Penicillin G → 100,000 u /kg / 24 hr at 4 - 6hourly interval for 10 - 14 days.
• In penicillin allergic → Erythromycin and Tetracycline.
• Diazepam →0.1 - 0.2 mg / kg iv every 3 - 6 hrs titrated to control spasms, sustained
for 2 - 6 weeks, before tapering.
• Supportive care in quiet, dark and secluded setting.
Prognosis:
• Mortality: 5 - 35%.
• For neonatal tetanus < 10% with ICU setting & 75% without ICU settings.
222 | Paediatrics
Worksheet
• MCQ OF “CNS” FROM DQB

11 Kidney
CONCEPTS
Â Concept: 11.1 AKI
Â Concept: 11.2 CKD
Â Concept: 11.3 RTA
Â Concept: 11.4 Glomerulonephritis
Â Concept: 11.5 RVT
Â Concept: 11.6 Nephrotic Syndrome
Â Concept: 11.7 UTI
Â Concept: 11.8 VUR
Â Concept: 11.9 Prune Belly syndrome & PUV
Â Concept: 11.10 HSP
224 | Paediatrics
Concept 11.1: AKI
Learning Objective: To understand the basic understanding of AKI in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Acute Renal Failure/ Acute Kidney Injury:

Oliguria - U.O. < 400 ml /m2 / day.
Newborn - 1ml/kg/hr.
Causes of Acute Renal Failure

Pre Renal Renal Post Renal
Hypovolemia Glomerulo nephritis Obstructive uropathy
Hemorrhage Post streptococcal * Uretero pelvic function
G I losses Lupus erythematosus * Ureterocele
Hypoproteinemia Membranoproliferative * Urethral valve
Burns Anaphylactoid purpura * Tumor
Renal / Adrenal disease with salt Localised intravascular Vesico ureteric reflux Acquired
wasting coagulation
Hypotension Renal vein thrombosis Stones
Septicemia Cortical necrosis Clot
DIC Hemolytic uremic Sx.
Hypothermia Acute tubular necrosis
Haemorrhage Drugs
Heart failure Heavy metals
Hypoxia Chemicals
Pneumonia Shock
RDS Hb, Mb
Acute interstitial nephritis
Infection
Drugs
Tumors
Renal parenchymal infiltration
Uric acid nephropathy
Most common cause of ARF in toddlers – HUS (Hemolytic Uremic Syndrome).
C/F:
• Pallor.
• ↓ urine output.
Kidney | 225
• Edema.
• Hypertension.
• Vomiting.
• Lethary.
Criteria for acute kidney injury

226 | Paediatrics
Diagnosis: Blood Tests:
• CBC.
• ABG.
• Blood urea.
• S. creatinine.
• S. uric acid.
• S. electrolytes.
• S. calcium.
• Serum C3.
PSGN.
SLE.
MPGN.
• ASLO.
• ANA.
Indices Prerenal Renal

Urinary Sodium (meq/L) < 20 > 40
Urinary Osmolality > 500 < 300
B. urea / Creatinine ratio > 20: 1 < 20: 1
Fractional excretion of Na (FeNa) % <1 > 1
Urine Na x Serum Cr
Serum Na Urine Cr
Treatment:
• Volume Replacement - NS / RL 20ml/kg
• ANCA.
• Anti basement membrane antibody.
• CXR.
• Renal USG.
• Renal Scan.
• Renal biopsy.
• Fluid restriction - Insensible losses + u.o.
• Correct electrolyte imbalance.
• Correct Acidosis.
• Hypertensive encephalopathy.
• Prophylactic antibiotics.
Indications for Dialysis:
• Acidosis.
• Electrolyte abnormalities (hyperkalaemia).
• CNS abnormalities.
• Hypertension.
• Fluid overload.
• CHF.
Kidney | 227
Concept 11.2: CKD
Learning Objective: To understand the basic understanding of CKD in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Chronic Renal Failure/ Chronic Kidney Disease [CKD]:

Etiology:
• < 5 yrs - Anatomic abnormalities
hypoplasia, dysplasia, obstruction, malformations
• > 5 yrs - Acquired glomerular diseases ( GN, HUS)
Hereditary (Alport’s syndrome, cystic disease)
Symptomatic only when GFR falls below 20% of normal
Pathophysiology
Pathophysiology
Manifestation Mechanisms
Azotemia Decline in GFR
Acidosis Urinary bicarbonate
Wasting
Decreased ammonia excretion
Decreased acid excretion
Sodium retention Nephrotic syndrome
CHF
Anuria
Excessive salt intake
Hyperkalaemia Decline in GFR
Acidosis
Excessive K. intake
Hypoaldosteronism
Renal osteodystrophy ↓ intestinal Ca2+ absorption
Impaired production of 1, 25 (OH)2, vitamin D by kidney
Hypocalcemia & hyperphosphatemia
228 | Paediatrics
Secondary hyperaldosteronism
Urinary concentrating defect Nephron loss
Solute duiresis
Increased medullary blood flow
Growth retardation Protein calorie deficiency
Renal osteodystrophy
Acidosis
Anemia
Anemia ↓ erythropoeitin production
Low grade hemolysis
Bleeding
↓ erythrocyte survival
↓ Iron, Folic acid intake
Treatment: Routine tests

Blood - Hb
- S. electrolytes
- ABG
- BUN.
- S. creatinine
- S. Ca2+, PO43-
- ALP
- PTH
- S. Albumin
X-ray - Long bones.
- CXR.
Echo.
Diet:
• Growth rate diminishes when GFR falls below 50%.
• Diet rich in carbohydrate & fats.
• Restrict proteins.
• Supplement water soluble vitamins, zinc and iron.
• Restrict water, sodium.
• Diuretics.
• Decreased oral K+ intake, add oral K+ binding resin.
• Oral NaHCO3.
• Oral calcium carbonate and other Ca2+ supplement & vitamin D.
Kidney | 229
Concept 11.3: RTA
Learning Objective: To understand the basic understanding of RTA in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Renal Tubular Acidosis:

• Clinical state of systemic hyperchloremic acidosis resulting from impaired urinary
acidification.
Distal RTA ( Type I).
Proximal RTA ( Type II).
Mineralocorticoid deficiency (Type IV).
85% of filtered HCO3 is reabsorbed in proximal tubules(secretion of H+ ion in
tubular lumen in exchange for Na+).
• Acidification of urine mediated by distal tubular secretion of H+ ion & NH3.
Proximal RTA Distal RTA
Basic defects Less common More common
↓ Carbonic anhydrase prod. ↓ H+ ion secretion
↓ H+ secretion
pH < 5.5 Never < 5.8
HCO3- loss More 5 - 15 %
Hypokalemia More severe Less severe
Nephrolithiasis - +
Serum HCO3 < 16 mmol / L 17.2 mmol / L
Urinary anion gap Negative Positive
e.g. Cystinosis, Lowe Sx. Medullary sponge
Acquired Fanconi Sx kidney
Prognosis May resolve after 1st decade Life long disease → RF

230 | Paediatrics
Cystinosis:
• AR.
• Accumulation of cystine within lysosomes of B.M, Liver, Spleen, LN, Kidney, Cornea
&Conjunctiva.
• Polyuria, polydipsia, fever, growth retardation, rickets, fair, blond hair,
photophobia,delayed sexual maturation.
• ESRD by end of 1st decade.
Lowe’s Syndrome:
• (Oculo-cerebro-renal dystrophy).
• X - linked recessive.
• Fanconi’s syndrome, organic aciduria, decreased NH3 production and heavy
proteinuria.
• Congenital cataracts, glaucoma, buph- thalmos, severe hypotonia, MR, rickets.
Kidney | 231
Concept 11.4: Glomerulonephritis
Learning Objective: To understand the basic understanding of glomerulonephritis in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Glomerulonephritis:
1. Acute post streptococcal GN:
• M.C. cause of gross hematuria in children.
• Follows infection of throat / skin with “ nephritogenic” strains of β - hemolytic
streptococci.
• IF microscopy shows lumpy-bumpy deposits of Ig and complement on GBMs /
Subepithelial deposits and in the mesangium.
Fig. 11.1
• Rare before 3 yrs of age.

• Asymptomatic microscopic hematuria - gross hematuria, oliguria, edema
&hypertension.
• Ac. phase resolves in 1 month, but urine normalises in 1yr.
Diagnosis: Blood:
• Serum C3is decreased.
• Anti DNase B., Streptozyme test.
• Urine - RBCs, PMNs, Casts.
232 | Paediatrics
Indications for Renal Biopsy:
• Development of ARF / Nephrotic syndrome.
• Absence of evidence of Streptococcal infection.
• Absence of hypocomplementemia.
• Persistence of marked hematuria / proteinuria or both.
• Diminished renal function.
• Low C3 level for more than 3 months after onset.
Prevention: Early systemic Antibiotics therapy of Streptococcal throat / skin infection
will not eliminate the risk of glomerulonephritis.
Treatment:
• Management as per protocols for ARF.
• 10 day course of penicillin.
Prognosis:
• Complete recovery in 95% pts.
• Does not progress to chronic GN.
• Recurrences are extremely rare.
2. Membranoproliferative Glomerulonephritis:
• M.C. cause of chronic GN in older children & adults.
• Crescents indicate poor prognosis.
• C3 may be ↓.
• Hypertension is common. Diagnosis: Renal Biopsy. Prognosis: Poor. Treatment:?
Steroids.
3. Good Pasture Disease:

• Antibodies against lung & GBM.
• Usual presenting symptoms - hemoptipsis
• - Hematuria, protenuria, RF.
• C3 level is normal.
Diagnosis:
• Renal Biopsy.
• Linear pattern of IgG along GBM.
Prognosis:
• Guarded.
4. Hemolytic Uremic
Syndrome:
• Mostly follows GE by EPEC - Verotoxin.
• Thickening of capillary walls, narrowing of capillary lumina and widening of mesangium
as a result ofdeposition of fibrin thrombi and leads to cortical necrosis 5 - 10 days.
Kidney | 233
C/F:
• GE - URI pallor, irritability, lethargy, oliguria, dehydration, edema, petechiae and
hepatosplenomegaly.
Diagnosis:
• Blood - Hb.
• P/S - helmet cells, burr cells, fragmented RBCs.
• Coomb’s test.
• Platelet’s.
• PT, PTTK normal.
• Urine - Microscopic hematuria, proteinuria.
Treatment:
• Anti coagulants.
• Peritoneal dialysis.
Prognosis:
• More than 90% survive acute phase with no sequelae.
• Recurrence is rare.
234 | Paediatrics
Concept 11.5: RVT
Learning Objective: To understand the basic understanding of RVT in children
Time Needed
1st Reading 05 mins
2 Look
nd
02 mins
Renal Vein Thrombosis:

Etiology:
Newborns Childhood
Asphyxia NS (Membranous nephropathy)
Dehydration Cyanotic heart disease

Sepsis Angiographic dyes
Shock
C/F:
• Painful hematuria.
• Unilateral / bilateral flank masses.
Diagnosis:
• Blood - micro angiopathic hemolytic anemia and thrombocytopenia.
• USG.
• Renal Scan.
• Doppler USG.
Treatment:
• Unilateral.
Supportive.
• Bilateral.
Thrombectomy.
Fibrinolytics.
Prognosis:
Poor in newborns as it leads to small scarred kidney. Nephrectomy should not be
performed in acute phase and later only if chronic infection / hypertension develops..
Kidney | 235
Concept 11.6: Nephrotic Syndrome
Learning Objective: To understand the basic understanding of nephrotic syndrome in
children
Time Needed
1 Reading
st
15 mins
2 Look
nd
10 mins
Nephrotic Syndrome:
Key components:
• Massive Proteinuria: > 40 mg / m2 / hr or Urine protein/Creatinine ratio >2:1.
• Hypoproteinemia: S. Albumin < 2.5 g/dl
• Edema.
• Hyperlipidemia: S. Cholesterol> 250 mg/dl.
• Hypercoagulability of blood.
Etiology: Idiopathic 90%.
• Minimal change disease 85%.
• Mesangial propliferation 5%.
• Focal glomerular sclerosis 10%. Glomerulonephritis 10%
• FSGS.
• Membrano- Proliferative GN.
Idiopathic Nephrotic Syndrome:

Minimal change disease:
Normal or minimal increase in mesangial cells / matrix. If negative, loss of epithelial cell
foot processes.
95% cases steroid responsive Mesangial Proliferative:
50 - 60% steroid responsive Focal Sclerosis:
Segmental scarring in one / more lobules
Progressive - ESRD 20% steroid responsive
C/F:
• M: F = 2: 1.
• More common between 2 - 6 yrs.
• Follows viral URI.
• Edema initially noted around eyes;
Relapse: Proteinuria (urine protein 3+ or more) for 3 consecutive days
Remission: Protein free urine (Urine protein negative pitting; ascites / pleural effusion;↓
urine output.
• Hypertension uncommon.
• Spontaneous resolution by 7 - 10 days in 1/3 patients.
236 | Paediatrics
Diagnosis:
Urine: Proteinuria 3+ or 4+ Microscopic hematuria Low creatinine clearance
Blood: ↑ serum cholesterol triglyceride S. Albumin low, S. Ca2+ low C3 is normal
Complication:
• Infection - ↓ Ig level Spontaneous
dema fluid - culture medium bacterial
- Protein deficiency peritonitis - Strep.Pneumonia
- ↓ bacterial activity of leucocytes
- Loss of properdin B in urine
- ↑ tendency to arterial and venous thrombosis
Treatment:
• Salt restricted diet.
• Diuretics (furosemide / chlorothiazide / speronolactone).
• 25% human albumin (1g / kg / 24hr).
Mainstay of treatment is Immuno-suppressive therapy:

Prednisolone is first line drug.
6 weeks daily steroids at 2mg/kg + 6 weeks alternate day steroid at 1.5mg/kg.
Kidney | 237
Infrequent relapses / Steroid toxicity cases Cyclophosphamide(most effective)
Steroid resistant NS: Tacrolimus is the DOC.

238 | Paediatrics
Concept 11.7: UTI
Learning Objective: To understand the basic understanding of UTI in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Urinary Tract Infections:

• More common in females.
• 7 - 11 yrs.
Diagnosed if Symptoms present along with positive urine culture.
Etiology:
• E. coli.
• Klebsiella.
• Proteus.
• Neonatal. Later
• Ascending. - Ascending
• Hematogenous.
Pathology:
• Acute Bacterial cystitis.
• Acute pyelonephritis.
• Chronic pyelonephritis.
C/F:
• Asymptomatic.
• Frequency.
• Dysuria.
• Urgency.
• Nocturnal enuresis ( secondary ).
• Foul smelling urine.
• Hyperammonemia - Proteus.
Hematuria - E.Coli.
Laboratory diagnosis:
• CBC.
• CRP.
• ESR.
• Urine.
M/e ( pus cells, RBCs, Casts).
pH ( alkaline ? - proteus).
Culture ( mid stream > 105 ) suprapubic - any count.
Kidney | 239
• Renal USG.
• Bld C/S.
• DMSA / glucohepatanate Scan.
• CT.
• MCU after Rx of UTI.
Recurrent UTI:
Any 2nd episode of UTI in childhood is labeled as recurrent UTI.
Treatment:
Treatment:
Cystitis - Cotrimoxazole
- Nitrofurantoin
Pyelonephritis - Cefotaxime / Ampi-genta
In c/o recurrent UTI - prophylaxis with Cephalexin/Cotrimoxazole.
• Other indications:
VUR.
Neurogenic bladder.
Calculi.
Urinary tract stasis and obstruction.
Follow-Up After First UTI In Children:

240 | Paediatrics
Concept 11.8: VUR
Learning Objective: To understand the basic understanding of VUR in childre
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Vesicoureteral Reflux:
• Dilatation of the ureter and upper collecting system and renal scars.
• 15 - 20% of ESRD in children.
Grading of VUR
a.
Fig. 11.2
b.
In gr I & II - 80% spontaneous resolution.

gr III & IV - 15% spontaneous resolution.
Diagnosis:
• MCU (Inv of choice).
• USG.
• DMSA Scan(For follow-up).
• IVP.
• CT scan in selected cases.
Treatment:
• Now antibiotic prophylaxis is recommended in all grades of VUR.
• Role of surgery (Urteric reimplantation): If breakthrough UTI occurs on antibiotics.
Kidney | 241
Concept 11.9: Prune Belly syndrome & PUV
Learning Objective: To understand the basic understanding of prune belly syndrome
& PUV in children
Time Needed
1 Reading
st
05 mins
2 Look
nd
02 mins
Prune - Belly Syndrome:

• Deficient abdominal muscles.
• Undescended testes.
• Urinary abnormalities (mega ureter, very large bladder with a patent urachus orurachal
diverticulum).
• Malrotation of bowel.
• Limb abnomalities and scoliosis.
Posterior Urethral Valves

• Prenatal diagnosis.
• Prenatally diagnosed PUV carry worse prognosis.
Diagnosis:
• MCU: in 2/3 cases VUR is present.
• S. creatinine.
Treatment:
• Primary valve ablation.
242 | Paediatrics
Concept 11.10: HSP
Learning Objective: To understand the basic understanding of HSP in children
Time Needed
1st Reading 05 mins
2 Look
nd
02 mins
Henoch - Schonlein Purpura or Vasculitis:

• Vasculitis of small bld vessels; MC vasculitis in childhood.
• Most obvious sign - Skin lesion.
The mandatory criterion is purpura (usually palpable and in clusters) or petechiae, with
lower limb predominance and without thrombocytopenia or coagulopathy. Patients also
must have one or more of the following:
• Abdominal pain (usually diffuse, with acute onset)
• Arthritis or arthralgia (acute onset)
• Renal involvement (proteinuria, hematuria)
• Leukocytoclastic vasculitis or proliferative glomerulonephritis, with predominant IgA
deposition
Etiology:
• Unknown.
• Follows URI.
• 2 - 8 yrs.
• M: F = 2: 1.
C/F:
Skin lesion - small wheal or erythematous macuopapule intially blanching to pressure
and later becomes petechial / purpuric (Palpable purpuria).
Kidney | 243
Fig. 11.3
C/F:
• Palpable urinary bladder.
• Poor stream.
• Sepsis.
• Seen over lower extremities & buttocks.
• Appear in crops.
• Rarely pruritic.
Arthritis:
• 66% cases.
• Large joints - knee & ankle.
• Swollen, tender, painful on motion.
• Resolve without residual deformity.
G.I. Symptoms:
• 50% cases.
• Colicky abdominal pain.
• Gross or occult blood in stools.
• Intusussception.
Renal Involvement:
• 25 - 50% cases.
• Hematuria with / without casts.
• Proteinuria.
• Nephrotic Syndrome.
• Hypertension.
• Azotemia.
Diagnosis:
• ESR.
• TLC, DLC.
• Urine M/e.
• Stool M/e.
• Serum IgA.
• Tissue biopsy - IgA deposits in tissue.
Treatment:
• No specific treatment.
• NSAID.
244 | Paediatrics
Worksheet
• MCQ OF “NEPHROLOGY” FROM DQB

12 Gastrointestinal System
CONCEPTS
Â Concept: 12.1 Esophageal atresia & TEF
Â Concept: 12.2 GER & Hypertrophic Pyloric
Stenosis
Â Concept: 12.3 Duodenal atresia,
Malrotation, Meconium ileus
Â Concept: 12.4 Hirschsprung disease
Â Concept: 12.5 Intussusception
Â Concept: 12.6 NEC
Â Concept: 12.7 Anorectal Malformations
Â Concept: 12.8 Dietary Protein Allergy,
Celiac disease, Lactose
intolerance
Â Concept: 12.9 Recurrent Pain abdomen
Â Concept: 12.10 Neonatal Cholestasis
Â Concept: 12.11 Reye’s Syndrome and Cirrhosis
Â Concept: 12.12 Miscellaneous
246 | Paediatrics
Concept 12.1: Esophageal atresia & TEF
Learning Objective: To understand the basic understanding of esophageal atresia &
TEF in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Esophageal Atresia and Tracheoesophageal Fistula:

Esophageal atresia:
• 1 in 3000 - 4500 L.B.
• 1/3 infants premature.
• > 85 % there is accompanying TEF.
Clinical suspicion:
1. Maternal polyhydramnios.
2. Catether (No8) cannot be passed to stomach.
3. Excessive oral suction.
4. Choking, cyanosis, coughing on attempted feeding.
5. Recurrent aspiration pneumonia (in H- type fistula).
Associated malformation (50%):

• Cardiovascular.
• Skeletal - VATER syndrome.
Hemivertebrae.
Abnormal development of radius.
Renal.
Urological.
• Tracheomalacia.
Gastrointestinal System | 247
Types:
Fig. 12.1
Diagnosis:
• X-ray abdomen - Coiled catheter in upper esophageal part.
• gaseous distention of stomach.
• Fluoroscopy - Fluoroscopy - water soluble dye.
• Video Esophagogram.
• ECHO.
Treatment - 2 Stage repair:

• Preoperatively kept prone.
• Continuous gastric suction.
• Start feeding 8-10 days after primary anastomosis after esophagography.
248 | Paediatrics
Concept 12.2: GER & Hypertrophic Pyloric Stenosis
Learning Objective: To understand the basic understanding of GER & Hypertrophic
pyloric stenosis in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Gastroesophageal Reflux:
• Free reflux of gastric contents across dilated LES.
C/F:
• 85% - excessive vomitting in 1st week of life.
• 60% - symptoms abate by 2 yrs with upright posture and solid food.
Increase incidence:
• Cerebral palsy.
• Down’s syndrome.
• Post- surgical repair of TEF.
These children have - recurrent pneumonia

• poor weight and height gain.
• occult blood in stool.
Diagnosis:
• Cine - barium.
Treatment:
• Nurse in prone position.
• Introduce solid food (cereal).
• Metoclopramide.
• Domperidone.
• Cisapride.
Congenital Hypertrophic Pyloric Stenosis (CHPS):

• Incidence: 3/1000 L.B.
• Risk factors.
• M > F.
20% male and 10% female babies whose mothers had pyloric stenosis.
Associated with blood group B, O.
Use of erythromycin in early neonatal period.
Fig. 12.2
C/F:
• Non-bilious vomiting after 3 weeks of life (1week - 5 months).
• Emesis follows feed.
• Hypochloremic metabolic alkalosis.
• Decrease in K+ with normal serum level
• 5% infants - Neonatal Cholestasis.
Diagnosis:
• Palpating abdominal mass 2 cm in length, olive shape,above and to the right of
umblicus, mobile.
• Peristaltic wave seen on feeding.
• Ultrasonography • Sensitivity 90%
• Pyloric muscle thickness > 4 mm
• Overall pyloric length > 14 mm
• Fluroscopy • Double Tract Sign
Treatment:
• Rehydrate with N-N/2 Saline in 5-10% Dextrose with KCl 30-50 meq/L.
• Correct alkalosis before operation or it causes postoperative apnea.
• Ramstedt’s pyloromyotomy: underlying pyloric mass is splitwithout cutting
mucosa.
Complication:
• Postoperative vomiting.
• Apnea.
• Start feed within 12 - 24 hrs after surgery.
250 | Paediatrics
Concept 12.3: Duodenal atresia, Malrotation, Meconium ileus
Learning Objective: To understand the basic understanding of Duodenal atresia,
Malrotation, Meconium ileus in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Duodenal Atresia:
Incidence:
• 1 in 10,000 births.
• 25 - 40% of all intestinal atresia.
• 50 % patients are premature.
Associated Anomalies:
• Malrotation ( 20%).
• Esophageal atresia ( 10 - 20%).
• Congenital heart disease ( 10 - 15%).
• Anorectal and renal anomalies 5%.
C/F:
• Day 1 - Bilious vomiting without abdominal distention.
• Peristaltic waves.
• Jaundice (1/3).
• X-Ray :- Double bubble sign.
Fig. 12.3
Prenatal Diagnosis:
• Ultrasonography.
• polyhydramnios (50%).
Treatment:
• NG Suction with I/V fluid.
• Duodenoduodenostomy.
Malrotation:
• Incomplete rotation of intestine during fetal development.
• Abdominal rotation and attachment complete by 3 months of gestation.
• Most common type of malrotation - failure of caecum to move intothe right lower
quadrant.
C/F:
• Most common age of presentation - 1st week (can present as late as 1 yr).
• Bilious vomiting and acute bowel obstruction.
• Plain X-ray of abdomen: duodenal obstruction with double bubble sign.
• Barium enema: position of caecum normal in 10 %.
Meconium ileus:
• Most commonly associated with cystic fibrosis but only 10% of infants with cystic
fibrosis experience meconium ileus.
• Plain X-ray of abdomen shows ground glass appearancein right lower quadrant.
252 | Paediatrics
Concept 12.4: Hirschsprung disease
Learning Objective: To understand the basic understanding of Hirschsprung disease
in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Congenital Aganglionic Megacolon (Hirschprung Disease):

• Most common cause of lower intestinal obstruction in neonate.
• Incidence - 1 in 5000 L.B.
• M > F, associated with RET gene mutations.
Association:
• Lawrence - Moon Biedl syndrome.
• Wardenburg syndrome.
• CVS anomalies.
• Absence of Meissner’s and Aurebach plexus and hypertrophied nerve.
• Bundles with high concentration of AChE between muscular layers and in Sub mucosa.
• Aganglionic segment limited to Rectosigmoid in 75% cases. In 10% cases entire colon
is involved.
C/F:
• Delayed passage of meconium.
• History of chronic constipation later.
• Dilatation of proximal bowel & abdominal distention.
↓
Increase in
intraluminal
pressure
↓
Decrease in blood
flow
↓
Disruption of Proliferation of bacteria
mucosal barrier (Clostridiumdifficle, Staph. aureus,
anaerobic, Coliform)
↓
Enterocolitis
↓
Sepsis and
large intestinal
obstruction
Diagnosis:
• Rectal manometry.
• Rise in pressure of internal anal Sphincter with rectaldistinction.
• Rectal suction biopsy.
• 2 cm away from dentate line.
• Stain for acetylcholine esterase.
• X-ray abdomen.
• Funnel shaped area - transition zone – betweendilated proximal bowel & constricted
distal bowel - seen after 1-2 week of age.
Barium enema:
Treatment:
• Surgical.
• Immediate definitive (Svenson / Duhamel / Boley).
• temporary colostomy and repair at 6-12 months of age).
254 | Paediatrics
Concept 12.5: Intussusception
Learning Objective: To understand the basic understanding of Intussusception in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Intusussception:
• Most common cause of intestinal obstruction between the age of 3months
• - 6yrs.
• Few reduce spontaneously.
• More in spring and autumn.
• Association with adenovirus.
• Most common ileocolic.
• Do not strangulate within first 24 hrs but later gangrene and shock.
C/F:
• Sudden onset of colicky pain.
• Straining effort and hard cries.
• May appear normal between paroxysm of pain.
• Later leads to shock.
• Vomiting - first non bilious later bilious.
• Bloody stool generally passed in first 24 hrs.
• Red currant jelly stool.
• Palpable sausage shaped tender mass in the right upper abdomen (not present in
30%).
Diagnosis:
• Barium enema: coiled spring appearance after evacuation.
Fig. 12.4
• Air enema: gaining popularity as it is safer and as accurateas Barium enema.
Treatment:
• Short duration without signs of perforation / shock - Pneumatic / hydrostatic
reduction under fluroscopic / ultrasonographic control (75%).
Recurrence rate following : 10%
barium enema
Surgical reduction : 2-5%
Surgical resection : 0%
256 | Paediatrics
Concept 12.6: NEC
Learning Objective: To understand the basic understanding of NEC in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Necrotising Enterocolitis (NEC):

• Acute intestinal necrosis of unknown etiology.
• Incidence : 0.3 - 2.4 cases / 1000 L.B.
Risk factor : most common Prematurity (30 - 32 weeks AGA).
Top fed.
Cocaine.
• Mean age of onset : 12 days.
• Mode : 3 days.
• Most common site: Terminal ileum, ascending colon.
• C/F: Systemic - Respiratory distress:
Apnea.
Bradycardia.
Lethargy.
Temperature instability.
Shock.
• Abdominal:
• Abdominal distention.
• Tenderness.
• Gastric aspirate.
• Vomit (bile / blood).
• Ileus.
• Abdominal wall erythema.
Modified Bell’s Staging:

Stage1 (Suspect NEC):
1A: Presents with temp dysregulation, apnea, occult blood in stools, increased pre-feed
aspirates.
1B: Same as 1A plus gross blood in stools.
Stage2 (Definite NEC):

• 2A: Abdominal distension seen, Pneumatosis intestinalis is hallmark.
• 2B: Abdominal wall cellulitis appears, Portal vein gas appears.
Stage3 (Advanced NEC):
• 3A: Complications like Shock, ascites, DIC appear. Bowel wall is intact.
• 3B: Same as 3A + Perforation of intestine leading to free gas under diaphragm.
Diagnosis:
• X-ray abdomen (AP and left lateral decubitus).
• Bowel wall edema.
• Pneumatosis intestinalis (radiological hallmark).
• Portal / hepatic venous air.
• Pneumobilia.
• Pneumoperitoneum.
• Blood - Thrombocytopenia MOST.
• Persistent metabolic acidosis COMMON.
• Severe refractory hyponatremia TRIAD.
Treatment:
• Nil orally
• NG suction
• I/V fluid / Parentral nutrition
• Acidosis correction
• Antibiotics
Stage 3B (Perforated bowel): Urgent Laparotomy followed by resection of perforated
segment is recommended.
258 | Paediatrics
Concept 12.7: Anorectal Malformations
Learning Objective: To understand the basic understanding of anorectal malformations
in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Anorectal Malformation:
• Perineal (cutaneous) fistula, simplest defect in both sexes.
• Most common defect in males - Rectourethral fistula.
• Most common defect in females - Vestibular fistula.
International classification of Anorectal anomalies
Imperforate anus:
• Often associated with esophageal atresia with or without TEFand is a component of
VATER syndrome.
• May pass meconium if rectovaginal / rectourinary fistula exists.
Low type:
80 % females have low type. 50 % males have low type.
The rectum has descended through the puborectalis sling and exists on the perineum
as a fistula.
1. Meconium may be passed into the vagina.
2. Meconium may be visualised on the perineum. In males it may be found on the rugal
folds of the scrotum.
3. Perineal fistulas may be dilated to temporarily relieve the obstruction and allow
paasage of meconium.
High type:
Rectum ends above the puborectalis sling. No perineal fistula is present. The fistula may
enter the urinary tract or vagina.
1. The presence of meconium particles in urine is diagnostic of RVF.
2. A cystogram may show a fistula and the level of rectal descent. Use of WANGESTEN-
RICE technique of taking AP & lateral films in upside down position may be misleadingif
distal rectum is filled with meconium.
3. USG to define distal level of rectum.
4. Temporary colostomy necessary in all neonates with a high imperforate anuswith or
without a fistula.
260 | Paediatrics
Concept 12.8: Dietary Protein Allergy, Celiac disease, Lactose
intolerance
Learning Objective: To understand the basic understanding of dietary protein allergy,
celiac disease and lactose intolerance in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Dietary Protein Allergy:

• Most common - Cow’s milk protein allergy.
• Systemic involvement.
G.I.T.
Respiratory.
Skin.
Mouth - recurrent shallow mucosal ulceration and perioral dermatitis.
Stomach- Vomiting, Diarrhea.
Small Intestine - Acute watery diarrhea with /without vomitingand abdominal
cramps.
▫ Chronic diarrhea with FTT.
▫ Excessive enteric protein and blood loss leading to.
▫ Hypoproteinemia and Fe deficiency.
• Colon - Pancolitis causing bloody diarrhea.
Diagnosis:
• Acute symptoms subside within 48 hrs of withdrawal of Cow’s milk.
• Chronic symptoms subside within 1 week of withdrawal of Cow’s milk.
• Antigen challenge.
Treatment:
• Prolonged breast feed decreases chances of CMPA (nursing mother’s eliminate cow’s
milk from diet).
Celiac Disease:
• Small bowel mucosal damage is the result of permanent sensitivity to dietary gluten.
• Most common age of presentation : 6 months - 2 yrs.
Pathogenesis:
• Dietary gluten (wheat, rye, oats, barley).
• sensitisation of L.P. lymphocytes.
• Genetic - 2.5% of first degree relatives have gluten sensitive enteropathy.
• HLA-B8, DR7, DR3, DQW2.
• Environmental - 30% discordance in monozygotic twins.
• 70% discordance in HLA identical siblings.
Histopathology:
• Site of maximum damage - Proximal small intestine.
• Villous atrophy.
• Crypt hyperplasia.
• Damage to surface epithelium.
C/F:
• Diarrhea (most common).
• FTT.
• Vomiting.
• Irritable, not interested in food (cystic fibrosis).
• Large billiary stools.
• Clubbing.
Increased prevalence in children with selective IgA deficiency or Diabetes mellitus.
Diagnosis:
• Serum IgA –ttG (Screening test of choice) or anti-endomysial antibody.
• Small bowel biopsy.
↓ If findings suggestive
Gluten free diet for 1-2 yrs
↓
Rechallenge with gluten
↓
Repeat biopsy
The classic pathology changes of celiac disease in the small bowel are categorized by
"Marsh Classification":
• Marsh stage 0 : Normal mucosa
• Marsh stage 1 : ↑ intra-Epithelial Lymphocytes >20/100 Enterocytes
• Marsh stage 2 : proliferatin of the crypts of Lieberkuhn
• Marsh stage 3 : partial or complete villous atrophy
• Marsh stage 4 : hypoplasia of the small bowel architecture
262 | Paediatrics
Fig. 12.5: Normal villi (above) compared with damaged villi in celiac disease (below)
Treatment:
• Life long gluten free diet.
Lactose Intolerence:
• Congenital.
• Acquired (post. infectious / celiac disease).
• Late onset genetic-lactase deficiency (4 yrs).
C/F:
• Osmotic diarrhea.
• Frothy stools, low pH (>5.6).
• Excoriation of buttocks.
• Crampy abdominal pain and bloating.
Diagnosis:
• Reducing sugar ( 2+ or more ) in stool
• Enzyme activity assay in Mucosal Biopsy specimen.
• Hydrogen breath test: ingest carbohydrates (1-2g / Kg max. 50 g).
• Breath is collected in sealed plastic bags at timed intervalsupto 2 hrs after ingestion.
Concept 12.9: Recurrent Pain abdomen
Learning Objective: To understand the basic understanding of recurrent pain abdomen
in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Recurrent Abdominal Pain (RAP):

• Incidence : 10% of preschool and school age children.
• < 2yrs - organic cause.
• > 2yrs - only 10% organic cause.
Disorder Characteristics Key evaluation
Non organic
RAP Syndrome (functional) Non specific, often periumblical
Non ulcer dyspepsia Peptic ulcer like syndrome without Esophagogastroduodenoscopy
abnormalities on evaluation of
UGIT
Irritable bowel syndrome Intestinal cramps, diarrhea,
constipation
GIT
Lactose Intolerance
Parasite infection (esp. Giardia) Bloating, gas, cramps, diarrhea Stool ova / cyst
Excess fruit / sorbitol ingestion Non specific abdominal pain,
bloating, gas, diarrhea
Peptic ulcer Burning / gnawing epigastric pain Esophagogastroduodenoscopy /
UGI contrast Xray
Meckel’s diverticulum Periumblical / lower abdominal Meckel’s Scan / enteroclysis
pain, may have blood in stool
Chronic appendicitis /Appendicial Recurrent right lower quadrant Barium enema, CT Scan
mucocele pain
Gall Blader & Pancreas
Cholelithiasis Right upper quadrant pain, may Ultrasonography of Gall bladder
worsen with meal
Choledochal cyst Right upper quadrant pain, mass ± Ultrasonography or CT of right
elevated Bil upper quadrant Lipase
Recurrent pancreatitis Persistent boring pain, radiate to Serum Amylase & Lipase ±
back, vomitting Serum trypsinogen
Ultrasonography Pancreas
264 | Paediatrics
Genetourinary tract
UTI Dull suprapubic pain, flank pain Urine R/M, Urine C/S, Renal scan
Hydronephrosis Unilateral abdominal / flank pain USG Kidney
Urolithiasis Flank to Inguinal region radiating Urine R/M, USG, I/Vfluid
to testis
Miscellaneous
Abdominal migraine Nausea with / without vomitting
can occur without headache
family history of migraine (+)
Abdominal epilepsy May have seizure prodrome EEG including sleep depressed
EEG
Gilbert syndrome Mild abdominal pain, increased Serum Bilirubin
unconjugate Bilirubin
Sickle cell crisis Anemia Hematologic evaluation
Lead poisoning Vague abdominal pain with / Serum lead level
without constipation
Henoch - Schonlein Purpura RAP, occult blood in stool, rash, Urinanalysis
orthopathy
Acute intermittent porphyria Precipitated by drugs, fasting, Spot urine for porphyrine
infection
Concept 12.10: Neonatal Cholestasis
Learning Objective: To understand the basic understanding of neonatal cholestasis in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Neonatal Cholestasis:
• Definition: Prolonged elevation of serum levels of conjugated bilirubin beyond the first
14 days of life (> 20 % is conjugated).
Neonatal cholestasis:
Intrahepatic Extrahepatic
Biliary Atresia
(EHBA)
Hepatocyte injury Intrahepatic
Paucity of bile ducts
• Alagille Syndrome
Metabolic Viral/ Idiopathic characteristic facies
Bacterial Ocular (posterior embryotoxon)
CVS (pulmonic stenosis, TOF)
Galactosemia Sepsis Neonatal Butterfly vertebrae
Hypothyroidism TORCH hepatitis Tubulointerstitial
Tyrosinemia Syphilis Hepatitis A,B,C Nephropathy
Cystic fibrosis • Byler’s Disease
α1 AT deficiency • Zellweger’s syndrome
HBA:
• Associated with malrotation, levocardia, intra abdominal and vascular anomalies.
• Persistently acholic stools.
• Liver - enlarged, firm to hard. Later cirrhosis.
• HIDA Scan - using imidoacetic acid.
266 | Paediatrics
Diagnosis:
• Normal uptake by hepatocyte with absent excretion into intestine.
• Prime with oral phenobarbital (5mg/ug/ day) and betnesol for 5 days.
• Excretion of isotope in patients with neonatal hepatitis.
• Liver biopsy is investigation of choice.
• Intraoperative cholangiogram is most reliable test.
Treatment:
• Hepatoporto enterostomy (Kasai’s procedure).
• most successful if performed before 8 weeks of life.
Concept 12.11: Reye’s Syndrome and Cirrhosis

Learning Objective: To understand the basic understanding of Reye syndrome and
Indian childhood cirrhosis in children
Time Needed
1 Reading
st
10 mins
2nd Look 05 mins
Reye’s Syndrome:
• Most commonly seen at 6 yrs of age (4- 12 yrs).
Etio-pathogenesis:
• Ingestion of Aspirin after varicella or influenza like viral infection.
Biphasic course
↓ 5-7 days
URI / Chicken pox → Recovery→ vomiting, delirium, combativebehaviour, stupor.
• No Focal neurological deficit.

• Mild to moderate hepatomegaly.
• Raised liver enzymes with normal Serum Bilirubin.
• Normal CSF except for raised pressure.
Major site of injury : Mitochondria → decrease in the activities of ornthine
transcarboamylase, carbamylphosphate synthatase and pyruvate dehydrogenase.
Stages:
Stage I Lethargy.
Stage II Confusion.
Stage III Obtundation, Decorticate rigidity with normal pupillary reflex.
Stage IV Decerebrate rigidity, fixed pupils.
Stage V Flaccid with isoelectric EEG.
Diagnosis:
• Raised SGOT, SGPT, CPK, LDH, S.NH3 (> 150 ug/dl).
• Raised Serum glutamate dehydrogenase.
• Hypoglycemia, hypoprothrombinemia.
• Gross pathology - yellow and white liver.
• Microscopy - foaminess of liver cytoplasm with microvesicular fatty change.
• CT Scan ( cranium ) : Cerebral edema.
Treatment:
• Control Raised ICT. Fluid Restriction 1500ml / m2 / day.
• I/V glucose (10 - 15%).
• Pento barbital 2.5 mg/Kg - protective effect on CNS.
268 | Paediatrics
Indian Childhood Cirrhosis:
• Age : 1-3yrs.
• M = F.
• Etiology : Genetic.
Environmental.
• Top fed infants - milk worm in brass/ copper vessels.
• Alkaloids.
• Modes of presentation.
a) Insidious - 70%.
b) Acute - 30%.
Insidious:
Stage I Anorexia, passage of pale stools, hepatomegaly, mild jaundice.
Stage II Irritability, clay colored stools, jaundice ± portal hyper tension.
Stage III Firm hepatomegaly with sharp margins. Granular / smooth surface,
moderate to severe jaundice, splenomegaly less than hepatomegaly.
• Total duration of illness 6 months to 3 yrs.
Acute / Malignant:
• Sudden onset of fever.
• Jaundice.
• Clay colored stools.
• Hepatomegaly.
• Hepatic encephalopathy, coma and death in 6 months.
Diagnosis:
• Deranged LFT.
• Anaemia.
• Urine - increased urinary losses of Zn and Cu.
• LDH isoenzyme pattern distinctive in ICC - two fold inc. in LDH 1 and dec. in LDH 2,4.
• Increased GGTP levels.
• Liver:
• Gross: Greenish with broad leafy margin, micro-nodular cirrhosis.
• Microscopy: Mallory’s hyaline.
• Hepatic copper markedly increased, seen in cytoplasm.
Treatment:
• D. Penicillamine.
• Death usually within 1 yr of diagnosis due to Liver failure.
Concept 12.12: Miscellaneous
Learning Objective: To understand the basic understanding of hepatitis B in neonate;
and eventration of diaphragm in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Hepatitis B in neonate:
• Vertical transmission from mothers who suffer from Acute Hepatitis B within last 2
months of delivery or who are chronic carriers.
• Mother is usually but not always HBe Ag + Transmission is intrapartum / post partum.
Placental transmission rare Role of breast milk controversial.
• HBs Ag + between 6 weeks to 6 months of birth.
• 90 % become chronic carriers.
Immunoprophylaxis:
• Screen all pregnant woman for HBs Ag. If (+) then HBe Ag.
• HB Vaccine (10 ug) should be given at birth ( within 12 hrs ) with Immunoglobulin
20 I.u. (0.4 ml) / Kg.
• Repeat Vaccine at 1 month and 6 month (0, 1, 2, 12).
Eventration of Diaphragm:
• Thinned diaphragmatic muscle producing elevation of the entire hemi diaphragm,
more commonly anterior aspect.
• Asymptomatic.
• Large or asymptomatic eventration only require surgery.
270 | Paediatrics
Worksheet
• MCQ OF “GASTROINTESTINAL SYSTEM” FROM DQB

13 Paediatric Tumors
CONCEPTS
Â Concept: 13.1 General Oncology: Familial
Predisposition; Common
Manifestations
Â Concept: 13.2 Brain Tumors
Â Concept: 13.3 Leukemias
Â Concept: 13.4 Lymphoms
Â Concept: 13.5 Neuroblastoma
Â Concept: 13.6 Wilm’s Tumor
Â Concept: 13.7 Miscellaneous:
Hepatoblastoma,
Rhabdomyosarcoma,
Hemangiomas
272 | Paediatrics
Concept 13.1: General Oncology: Familial Predisposition; Common
Manifestations
Learning Objective: To understand the basic understanding of general oncology in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Familial / Genetic Susceptibility to Malignancy:

Disorder Tumor / Cancer Comment
Chromosomal Syndromes
• Chromosomal 11p – Wilm’s tumor Assoc. with
withsporadic aniridia genitourinaryanomalies, MR
• Chromosome 13 q - Retinoblastoma Assoc. with MR,
Skeletalmalformation
Trisomy 21 Lymphocytic / non Risk is 15 times normal
lymphocyticleukemia
Klinefelter’s Syndrome Breast cancer, extra gonadalgerm
cell tumor
Gonadal dysgenesis XO / XY Gonadoblastoma Gonads must be removed,
25%chance of gonadal malignacy
Trisomy 8 Preleukemia
Noonan Syndrome Schwannoma
DNA Fragility
Fanconi’s anemia Leukemia AR, 10% risk for AML,
(+) diepoxy butane test
Bloom Syndrome Leukemia, Lymphoma AR
Ataxia- telangectasia Leukemia, Lymphoma AR
Immunodeficiency Syndrome
Wiskolt Aldrich Syndrome Leukemia, Lymphoma X linked recessive
Others
Hemochromatosis Hepatoma AD / AR
Retinoblastoma Sarcoma ↑ risk of secondarymalignancy
20yrs later
Glycogen Storage disease I Hepatic Arenoma Usually associated with
cirrhosis, AR
Tyrosinemia, Galactosemia Hepatic carcinoma Nodular cirhosis, AR
Rendu - osler - weber Sx Angioma AR
Von Hippel Landau disease Hemangioblastoma AD , mutation of
of thecerebellum & tumorsuppressor gene
retinaphenochromocytoma
Paediatric Tumors | 273
Common Manifestation of Childhood Malignancy:
Sign Significance Example
Hematologic
• Pallor , anemia Bone marrow Leukemia , neuroblastoma
infiltration
• Petechiae, thrombocytopenia Bone marrow Leukemia , neuroblastoma
infiltration
• Fever, pharyngitis,neutropenia Bone marrow Leukemia , neuroblastoma
infiltration
Systemic
• Bone pain, limp, Primary bone tumor, Osteosarcoma, Ewing sarcomaleukemia,
metastasisto bone neuroblastoma
• PUO, weight loss, night sweats Lymphorcticular Hodgkin’s disease, NHL
malignancy
• Painless lymphadenopathy Lymphoreticular Leukemia, Hodgkin’s , NHLBurkitt’s
malignancy lymphoma
• Abdominal mass Adrenal - renal tumor Neuroblastoma , Wilm’s
tumor,Hepatoblastoma
• Hypertension Sympathetic Nervous Neuroblastoma,Wilm’s tumor
systemtumor
• Diarrhea VIP Neuroblastoma, ganglioneuroma
• Soft tissue mass Local / metastatic tumor Ewing’s osteosarcoma, neuroblastoma,
rhabdomyosarcoma
• Chronic ear discharge Middle or inner ear Rhabdomyosarcoma
mass
• Leukocoria White pupil Retinoblastoma
• Periorbital ecchymosis Metastasis Neuroblastoma
• Miosis, ptosis, heterochromia Horner’s syndrome Neuroblastoma
• Exophthalmos Orbital tumor Rhabdomyosarcoma
• Ant. Mediastinal mass Cough, stridor, Thymoma, teratoma,
pneumonia, T - cell lymphoma, thyroid
tracheo bronchial
compression
• Post. Mediastinal mass Vertebral / nerve Neuroblastoma,
rootcompression ; neuroenteric cyst
dysphagia
274 | Paediatrics
Concept 13.2: Brain Tumors
Learning Objective: To understand the basic understanding of brain tumors in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
Brain Tumors:
• Second most common malignancy in childhood.
• Most common site of intracranial tumor in children 2 - 12 yrs – infratentorial(posterior
fossa) - 66%.
• < 2yrs, > 12 yrs - equal frequency in post. fossa and supra tentorial region.
Glial Cell Tumors Neuroectodermal
• Astrocytoma • Medulloblastoma
• Ependymoma • Pineoblastoma
• Glioblastoma multiforme
C/F:
• Posterior fossa tumors - signs and symptoms of ↑ ICT.
• Supra tentorial tumors - focal neuro-
• logical deficit and seizures.
• First symptoms - alteration in person- alities.
• Morning headache, vomiting, diplopia, papilledema, bulging AF, increasing head
circumference.
• Strabismus, head tilt and nuchal rigidity (herniation of cerebellar tonsils), nystagmus.
• Ataxia - Cerebellar vermis - truncal ataxia.
• Cerebellar hemisphere - ipsilateral extremity ataxia and dysdiadochokinesia.
1. Infratentorial Tumors:
Cerebellar astrocytoma:
• Most common post. fossa tumor in childhood.
• Best prognosis.
• Can be cystic with solid areas / solid with cystic areas.
Treatment:
• Surgical resection.
• 5 yr survival > 90%.
• Radiotherapy reserved for high grade astrocytomas.
Medulloblastoma:
• Most common brain tumor in children < 7yrs.
• Site of origin : (?) roof of IV ventricle.
• Extracranial metastasis common .
• Imaging modality of choice : MRI.
Treatment:
• Surgical.
• With Radiotherapy for children > 4yrs.
• Chemotherapy in case of residual tumor following surgery / dissemination.
• < 2yr → Poor prognosis.
Brain stem glioma:
• Third most common post. Fossa tumor.
2. Supratentorial Tumors:
Craniopharyngioma:
• Most common supra tentorial tumor in children.
• May be confined to Sella turcica or extend compressing Optic nerve system and third
ventricle producing hydrocephalus.
• Tendency to calcify (90% show
• calcification on plain XR Skull / CT Scan)
• Short stature.
• Bitemporal visual field defects.
• Papilledema.
Treatment:
• Craniotomy using sub-frontal approach (no recurrence in 60%).
• Post-operative complications.
• Diabetes insipidus.
• Hypothyroidism.
• Growth hormone.
• Adrenocortical deficiency.
Optic Nerve Gliomas:
• Low grade astrocytomas.
• 25% have associated NF - I.
• May invade optic chiasma and hypothalamus producing visual field defects or the
diencephalic syndrome
• Decreased visual acuity and disk pallor.
Perinaud’s Syndrome:
• Pressure by tumor of pineal gland on quadrigeminal plate.
• Conjugate up ward gaze palsy and poorly reacting pupils.
276 | Paediatrics
3. Pseudotumor Cerebri:
• ↑ ICP, normal CSF cell count and protein content and normal ventricular size, anatomy
and position.
Causes
• Metabolic.
Galactosemia.
Hypoparathyroidism.
Prolonged steroid treatment.
Hypervitaminosis A.
Addison’s disease.
• Infections.
Roseola infantum.
CSOM.
• Drugs.
Nalidixic acid.
Tetracycline.
C/F:
• Most common symptom - headache, vomiting, diplopia, bulging AF, Macewen’s sign,
papilledema.
Treatment:
• Self limited. Treat underlying cause.
• Lumbar puncture.
• Acetazolamide and Steroids.
Concept 13.3: Leukemias
Learning Objective: To understand the basic understanding of leukemias in children
Time Needed
1st Reading 15 mins
2 Look
nd
10 mins
Leukemias:
• Most common childhood cancer.
• ALL - 75% , AML - 20% , CML - 4 - 5%.
1. Acute Lymphoblastic Leukemia:

• M > F.
• Association with immunodeficiency (ataxia - telengectasia, congenital hypogamma
globulinemia) or with chromososmal defect (trisomy 21).
• FAB classification.
• 85% cells derived from progenitor B cell, 15% from progenitor C - cells.
C/F:
• Time interval between time of presentation & diagnosis < 4 weeks.
• Anorexia, lethargy, irritability → pallor (75%), bleeding (50%) and fever (25%),
Splenomegaly (66%), Bone pain and arthalgia (25%). Lymphadenopathy and
hepatomegaly less common. Children with T - cell ALL have anterior mediastinal
mass (66%).
Diagnosis:
• Anaemia.
• Leukopenia (50%) or leucocytosis (20%)
• Blast cells on P.S.
• Bone marrow aspiration.
• CXR.
• CSF examination.
• KFT.
Treatment: Standard risk patients:
• Age 1 - 10 yrs.
• WBC < 1 lakh / mm3.
• No mediastinal mass / CNS leukemia.
• B - progenitor cell immunophenotype.
Regimen : Remission Induction (4 – 6 wks):
• Vincristine.
• Prednisolone Remission with in 4 weeks in 98% patients.
• Asparaginase.
278 | Paediatrics
Systemic Continuation Therapy (2.5 - 3 yrs):
• Methotrexate.
• 6 - Mercaptopurine.
In the absence of CNS prophylaxis , initial site of relapse - CNS (50%).
CNS prophylaxis:
• Methotrexate.
• Hydrocortisone Weekly x 6 then every 8 weeks for 2 yrs .
• Ara - C.
Most pts of T - cell ALL relapse in 3 - 4 yrs with standard risk regimen.
Factors associated with poor prognosis:
1. Initial WBC (> 50,000 / mm3).
2. Age at diagnosis (< 2 yrs, > 10 yrs).
3. Sex - Female.
4. Cytogenetics / ploidy t (9; 22), (4; 11), (1; 19) Hypoploidy/ pseudodiploidy/near
haploid ALL.
5. FAB morphology (L3 Subtype).
6. Immunological Subtype (T. Cell ALL).
Relapse:
• Most common site of relapse - Bone marrow.
• Most common extramedullary site of relapse - CNS and Testes.
• Cranial irradiation is the only treatment that completely eradicates CNS leukemia →
neuropsychologic effects.
2. Acute Myeloid Leukemia:

• Predominant neonate / congenital leukemia.
Increased incidence in trisomy 21, Fanconi anemia, Diamond - Blackfan anemia,
children previously treated for another malignancy.
• FAB classification - most common subtypes - M4, M5.
- M3 -DIC
- t (15 ; 17)
- retinoic acid remission
- M2- t (8 ; 21) → chloroma
- M4 - eosinophilia.
C/F:
• Fever, anorexia, pallor, weight loss, weakness, sore throat, bleeding manifestations,
bone / joints pain, lymphadenopathy, neurological signs and symptoms, swollen
gingiva,chest pain, recurrent infections.
• Most common site of chloroma - retroorbital / epidural.
Diagnosis:
• Bone marrow -A
tleast 30%
aspirate leukemic blast
- Myeloperoxidase
+, Sudan Black +
NSE +
Treatment:
• Anthracycline (daunomycin, idanibicin) + cytarabine → 70 - 80% remission within
2 - 3 wks.
• Intrathecal chemotherapy to prevent CNS relapse.
Adverse prognostic factors in childhood AML:
• WBC > 100,000 / mm3.
• FAB M1 associated without Auer rods.
• Monosomy 7.
• Secondary AML / prior myelodyolplastic syndrome.
Juvenile Chronic Myelogenous Leukemia (JCML):

• Rare < 5 yrs .
• Most common in NF -1.
• Feature of - AML & MDS.
• No Ph chromosome.
• Elevation of Hb F (> 50%) and leucocytosis (predominantly BM and blood monocytosis).
• Chronic desquamative maculopapular skin eruption predates the diagnosis.
280 | Paediatrics
Concept 13.4: Lymphoms
Learning Objective: To understand the basic understanding of lymphomas in children
Time Needed
1st Reading 15 mins
2 Look
nd
10 mins
LYMPHOMA:
1. Hodgkin’s Disease:
• Age incidence - bimodal - 2nd decade & after 50 yrs.
• Whites, males, underlying immunodeficiency, familial, EBV.
• Reed Sternberg cell.
• Most common form in childhood - Nodular Sclerosing.
• Least common and least favourable form - Lymphocyte depletion - common in HIV
patients.
• Most common site of extra nodal involvement - Lung )CXR - diffuse, fluffy infiltrates).
C/F:
• Painless enlargement of LN especially in cervical and supraclavicular area.
• Firm, non-tender, discrete.
• Varicella - Zoster infections occur in upto 33% patients → treatment with i.v. acyclovir.
Diagnosis:
• Lymph Node Biopsy.
• CT scan of chest and abdomen for staging.
• Lymphangiography for LN involvement below L2.
Alternating MOPP & ABVD regimen has produced cure rate of 70 - 90% and is favoured
by pediatric oncologists.
Prognosis:
• > 90%achieve initial complete remission.
• Most common secondary malignancy - AML maximum risk 10 yr after treatment.
2. Non Hodgkin’s Lymphoma:

• Diffuse, extranodal, high grade tumors (c.f. adult).
C/F:
• Most common primary site - abdomen
• Lymphoblastic NHL - Head & neck
-A
nterior Mediastinum
• SNCC primary - Abdomen
- Head & neck
• Large cell - any
Concept 13.5: Neuroblastoma
Learning Objective: To understand the basic understanding of neuroblastoma in
children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
NEUROBLASTOMA:
• Most common extracranial solid tumor of childhood.
Pathology:
• Originate in neural crest cells of sympathetic nervous system.
• 70% arise in abdomen (50% in adrenals).
• Mode of spread - Local invasion.
Lymphatic.
Haematogenous.
• M/E: Homer - Wright rosettes with areas of calcification and necrosis with extensive
hemorrhage.
C/F:
• Hard, painless mass in neck or large palpable abdominal mass or intra-thoracic mass
on CXR.
• 60 - 75% patients have metastases at diagnosis.
• Orbits (proptosis and echhymoses) - RACCOON EYES.
Fig. 13.1
• Dura (split sutures).

• Cervical / upper thoracic sympathetic ganglion (Horner’s Sx).
• Nasopharynx (epistaxis / nasal block).
• Skin & subcutaneous tissue (Blue berry muffins).
• Cerebellar (ataxia, opsoclonus, myoclonus).
• Intestine (diarrhea).
• Cardiovascular (HT).
282 | Paediatrics
Diagnosis:
• Increased urinary Homovanillic acid & Vaniyl mandelic acid levels - markers.
• MIBG Scan - for defining the site of metastasis and following response.
• Liver Biopsy.
• BMA & Biopsy.
Staging - POG system )Pediatric Oncology Group).

A - Grossly resecetable tumor.
B - Localised unrescetable tumor.
C - Metastasis to non - contiguous LN.
D - Metastasis beyond LN.
Ds- Metastasis limited to skin, liver or BM.
Treatment:
• Surgical : Curative for localised tumor
• Chemotherapy : Unresectable (metastatic disease < 1yr : excellent response to
cyclophosphamide & doxorubicin)
• Radiotherapy : Radiosensitive tumor
• Neonatal Ds : Spontaneous remission
Poor prognostic markers:
• Age > 1 yr.
• High stage / metastasis disease.
• Hyper-diploidy.
• N – myc amplification.
Concept 13.6: Wilm’s Tumor
Learning Objective: To understand the basic understanding of Wilm’s tumor in children
Time Needed
1st Reading 10 mins
2 Look
nd
05 mins
WILM’S TUMOR:
• Most common renal neoplasm in childhood 2 to 5 yrs aof age.
• M = F.
• Association with Congenital anomalies.
Genitourinary (4%).
Hemihyperitrophy (3%).
Sporadic aniridia (1%).
• Deletion involving at least one of the 2 loci of chromosome 11.
Syndrome:
• WAGR Syndrome (Wilm’s, aniridia, genitourinary malformation, MR).
• Denys - Drash syndrome (Wilm’s, nephropathy & genital abnormality).
Pathology:
• Solid, any part of kidney, variably encapsulated with small areas of hemorrhage.
• Anaplasia is associated with poor prognosis.
C/F:
• Median age at diagnosis - 3 yrs.
• Most frequent sign - unilateral abdominal / flank mass smooth, firm; rarely cross
midline.
• Hypertension.
• Gross / microscopic hematuria.
• Para-neoplastic syndrome - polycythemia, hypercalcemia, Von Willebrand disease.
Diagnosis:
• CT Scan (after initial USG abdomen).
• CXR.
Treatment:
• Surgical - Nephrectomy.
• Chemotherapy - Vincristine + Dactino-mycin.
284 | Paediatrics
Concept 13.7: Miscellaneous: Hepatoblastoma, Rhabdomyosarcoma,
Hemangiomas
Learning Objective: To understand the basic understanding of miscellaneous tumors
in children
Time Needed
1 Reading
st
10 mins
2 Look
nd
05 mins
Rhabdomyosarcoma:
• Most common pediatric soft tissue sarcoma.
• Most common site: head and neck.
• Associated with NF.
• Arises from same embryonic mesen- chyme as striated skeletal muscle.
• Most common type - Embryonal type.
C/F:
• Most common presentation - mass.
Treatment:
• Best prognosis seen in pts with completely resectable tumors.
Hepatoblastoma:
• Most common primary malignant neoplasm in children.
• < 3 yrs.
• M > F.
• Association with congenital anomalies.
Hemihypertrophy.
Beckwith - Wiedmann Syndrome.
Diaphragmatic & umblical hernia.
Meckel’s diverticulum.
Renal anomalies.
• Right lobe more common.
C/F:
• Enlarging asymptomatic abdominal mass.
• Pain, fever, weight loss.
• Jaundice is rare.
Diagnosis:
• LFT is normal.
• AFP level is raised.
• CBC may show thrombocytosis, anemia and leucocytosis.
• CT scan abdomen and chest (for pulmonary metastasis).
Treatment:
• Preoperative chemotherapy.
• Surgical excision.
• Most common benign tumor in infants.
• Most commonly occur on skin.
• 60% found over head and neck region.
• 50% resolve by 5 yrs and 90% by 10 yrs.
Complication (in case of rapidly growing hemangiomas):
• Airway / ear canal obstruction.
• Infection.
• CHF.
Treatment:
• Interferon . alfa - 2a.
• Prednisolone.
• Resection.
• Laser photocoagulation.
Kasabach - Meritt Syndrome:
• Cavernous hemangioma.
• Microangiopathic hemolytic anemia.
• Consumption coagulopathy.
286 | Paediatrics
Worksheet
• MCQ OF “PAEDIATRIC TUMORS” FROM DQB

14 Miscellaneous High-Yield Topics
CONCEPTS
Â Concept: 14.1 Important High Yield Topics
Â Concept: 14.2 Juvenile Idiopathic Arthritis
288 | Paediatrics
Concept 14.1: Important High Yield Topics
Learning Objective: To understand important points of high yield topics in Pediatrics
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
• Slanting of the eyes: Refers to the difference in levels between the inner and outer
canthi of eyes.

Fig 14.1: Mongoloid Slant Fig 14.2: Antimongoloid Slant
Mongoloid slant (Slanting downwards from lateral to medial canthus).

• Prader-Willi syndrome.
• Ectodermal dysplasias.
• Aarskog sundrome.
Antimongoloid slant (Slanting downwards from medial to lateral canthus).
• Alport syndrome.
• Apert Syndrome.
• Alagille syndrome.
• Noonan Syndrome.
• Crouzon syndrome.
• Cri-du-chat syndrome.
Abnormal tongue in pediatrics:

• Macroglossia (Large tongue): seen in Mucopolysaccharidosis, acromegaly,
hypothyroidism, Glycogen storage disorders, amyloidosis, down syndrome (relative
macroglossia seen).
• Microglossia (Small tongue): seen in Pseudobulbar palsy, 12 nerve palsy.
• Pale tongue: Anemia.
• Strawberry tongue: Kawasaki disease, Scarlet fever.
• Blue tongue: Cyanotic conditions, methemoglobinemia.
• Yellow tongue: Jaundice.
• Red, swollen, beefy tongue: Pellagra, Vit B12 def.
• Smooth red tongue: Pernicious anemia.
• Black hairy tongue: Fungal infections.
• White patches on tongue: Candidiasis.
Miscellaneous High-Yield Topics | 289
Fig. 14.3: Strawberry Tongue
• Webbed neck: Seen in Turner Syndrome, Noonan Syndrome, Diamond-Blackfan

Syndrome, Meckel-Gruber Syndrome.
• Formulae for Blood pressure in Children.
Systolic BP: 90 + (Age in yrs X 2)
Diastolic BP: 55 + (Age in yrs X 2)
Hypotension if SBP < 70 + (Age in yrs X 2).
• Calcium Gluconate and Sodium Bicarbonate is always diluted in : Distilled Water.
• A child with Shock and severe Metabolic acidosis comes to you, 1st step to be done is
: Fluid Bolus to Maintain circulation; if despite adequate fluid status, there is acidosis,
give NaHCO3 only if pH<7.1.
Sudden infant death syndrome:

Defined as the sudden death of an infant that is unexpected by history and by a thorough
P/M examination. Mostly occur b/w 1 mth to 1year age (peak at 2 to 4 months).
Risk factors:
• Maternal smoking and alcohol use.
• Low socio-economic status.
• IUGR and H/O birth asphyxia.
• Male gender.
• Winter months.
• Prematurity.
• Side or prone-position sleeping.
• Cow milk feeding.
290 | Paediatrics
Indications for auditory screening (ABR or OAE) in children:
1. Family H/O SNHL.
2. In utero TORCH infections/congenital syphilis.
3. Bacterial meningitis (Particularly Pneumococcal and H. influenza).
4. H/o exchange transfusion for neonatal hyperbilirubinemia.
5. Prolonged use of ototoxic drugs like Aminoglycosides, Loop diuretics.
6. Apgar score 0 to 4 at 1 min & 0 to 6 at 5 min of life.
7. Mechanical ventilation for >72 hrs.
8. Suspected syndromic baby.
9. Extreme prematurity.
Some Important Syndromes:

1. Pierre- Robin Syndrome – Micrognathia, Retrognathia, cleft palate (60%), short
neck, Glossoptosis.
2. Beckwith Wiedmann Syndrome – Overgrowth – LGA, Macrosomia, Macroglossia,
visceromegaly, hemi hypertrophy, hypoglycemia, increased risk of Wilm’s tumor,
hepatoblastoma and rarely, neuroblastoma also.
3. Prader- Willi Syndrome- Uniparental disomy, genomic imprinting, Hypotonia, h/o
decreased fetal movements, difficulty in swallowing, weak cry, almond shaped eyes,
obesity, hypo plastic genitalia, cryptorchidism in boys, hypotonia improves along
with appetite leading to hyperphagia and obesity. Defect in 15q.
4. Silver- Russell Syndrome - Short stature, frontal bossing, triangular facies, diminished
subcutaneous fat, IUGR, short incurved little finger.
5. Treacher-Collin’s syndrome - Autosomal dominant Hypoplasia of malar bones,
antimongoloid slant of palpebral fissures, coloboma of eyelids, preauricular ear
tags, external ear generally large, Floppy and crumpled. Ear ossicles malformed –
conductive deafness, malocclusion of teeth.
6. Cri-du- chat Syndrome (5p -) – Cat like cry in infancy related to hypoplastic larynx
and lessens with increasing age. Moon like facies, microcephaly, micrognathia,
hypertelorism, bilateral epicanthic folds, mental retardation.
7. Di George- Velo cardio facial – CATCH22.
Hypoplasia or agenesis of thymus, conotruncal cardiac defects, Hypoplasia of auricle,
cleft palate, short stature.
8. Goldenhar Syndrome – Facial asymmetry, microtia, preauricular skin tags, ASD,
Vertebral anomalies.
9. Prune belly syndrome – Abdominal wall defects, undescended testes, urinary tract
anomaly.
10. Potter syndrome: - Bilateral renal agenesis or severe obstructive uropathy,
characteristic facial features- flat facies, eyes widely separated, epicanthic folds,
ears low set, nose broad and compressed flat, receding chin. Pulmonary hypoplasia,
severe oligohydromnios.
11. Carpenter syndrome: Cloverleaf skull, syndactyly, mental retardation,
Craniosynostosis.
12. Crouzon syndrome: Craniosynostosis, ocular proptosis, Hypoplasia of maxilla,
hypertelorism.
13. Apert syndrome: Craniosynostosis, features of crouzon, syndactyly.
14. Fragile x syndrome.
Second most common cause of mental retardation in males after Down’s syndrome.
Due to expansion of allelic site (CCG) on xq27.3 locus.
Normally upto 50 repeats.
50-150-permutation – No MR. 150-2000 repeats mutation– MR
Females mild MR. carriers.
Clinical features:- Large head, large ears, mental retardation.
▫ Macro-orchidism, large face, prominent jaw.
Diagnosis – Regular metaphase studies not useful.
▫ Diagnosis is made by DNA probes to identify fragile site and number of triplet
repeats.
Fig. 14.4
Indications of PRBC transfusion in children:

1. Hb 4 g/dl (Hematocrit of 12%) or less, irrespective of the clinical condition or cause.
2. Hb 4 to 6 g/Dl(Hematocrit 13 to 18%) with features of hypoxia, acidosis or both,
causing dyspnea and/or altered sensorium.
3. Hyperparasitemia in malaria>20%.
Features of cardiac decompensation in anemia of any grade.
Most common genetic cause of mental retardation: Down syndrome.
Most common inherited cause of mental retardation: Fragile-X Syndrome.
Most common preventable cause of mental retardation: Congenital hypothyroidism.
292 | Paediatrics
Concept 14.2: Juvenile Idiopathic Arthritis
Learning Objective: To understand the basics of Juvenile Idiopathic Arthritis in children
Time Needed
1st Reading 15 mins
2 Look
nd
05 mins
Juvenile Rheumatoid Arthritis:

Subgroups of JRA:
Characteristic Polyarticular Polyarticular Pauciarticular Pauciarticular Systemic
RF negative RF positive Type I Type II Onset
% of JRA 20 - 30 % 5 - 10 % 30 - 40 % 10 - 15 % 10 - 20 %
patients
Sex 90% girls 80% girls 80% girls 90% boys 60% boys
Age at onset Any Late Early Late Any
Childhood Childhood Childhood
Joints Any, Any, Large joint-elbow, Hip girdle Any
Symmetric Symmetric knee, ankle, Asymmetric
Asymmetric
Sacroilitis No Rare No Common No
Iridocyclitis Rare No 30% chronic 10-20% acute No
Rheumatoid Negative 100% Negative Negative Negative
Factor
Antinuclear 25% 75% 90% Negative Negative
antibody
HLA studies ? HLADR 4 HLADR 5,6,8 HLA B27 ?
Manifestations of Systemic onset JRA:

• High intermittent fever.
• Rheumatoid rash.
• Hepatosplenomegaly.
• Lymphadenopathy.
• Arthritis, arthralgia, myalgia during febrile period.
• Marked leucocytosis, severe anemia.
Treatment:
• NSAIDS are Drugs of choice.
• DMARDs (eg Hydroxychloroquine, Mtx) needed in severe cases, particularly systemic
onset and polyarticular varieties.
• TNF-alpha targeting drugs in severe cases.
Worksheet
• MCQ OF “MISCELLANEOUS HIGH-YIELD TOPICS” FROM DQB

294 | Paediatrics
EXTRA POINTS
15 Paediatrics Guidelines
CONCEPTS
Â Concept: 15.1: S
AM Indian Academy of
Pediatrics Guidelines
296 | Paediatrics
Concept 15.1: SAM Indian Academy of Pediatrics Guidelines
GUIDELINES
Consensus Statement of the Indian Academy of Paediatrics on
Integrated Management of Severe Acute Malnutrition:
Justification: Severe acute malnutrition (SAM) is a major public health issue. It
afflicts an estimated 8.1 million under-five children in India causing nearly 0.6 million
deaths. The improved understanding of pathophysiology of SAM as well as new
internationally accepted growth charts and newer modalities of integrated intervention
have necessitated a relook at IAP recommendations.
Process: A National Consultative Meeting on Integrated Management of Severe Acute
Malnutrition was held in Mumbai on 16th and 17th October, 2010. It was attended by
the invited experts in the field. Extensive discussions were held as per the program.
The participants were then divided into six groups for detailed discussions. The
groups deliberated on various issues pertaining to the task assigned and presented
recommendations of the groups in a plenary session. The participants made a list of
recommendations after extensive discussions. A Writing Committee was formed and
was entrusted with the task of drawing a Consensus Statement on the basis of these
Recommendations. After multiple deliberations, the following Consensus Statement
was adopted.
Objectives: To critically evaluate the current global evidence to formulate a consensus
among stakeholders regarding diagnosis and management of SAM.
Recommendations: An integrated management of malnutrition is likely to yield more
dividends. Thus, management of SAM should constitute an important component
of Integrated Management of Neonatal and Childhood Illnesses (IMNCI) program.
Determination of SAM on the basis of Z-scores using WHO Growth charts is considered
statistically more appropriate than cut-offs based on percentage weight deficit of the
median. Considering the fact that many children with SAM can be successfully managed
on outpatient basis and even in the community, it is no more considered necessary to
advise admission of all children with SAM to a healthcare facility. Management of SAM
should not be a stand-alone program. It should integrate with community management
therapeutic programs and linkages with child treatment center, district hospitals and
tertiary level centers offering inpatient management for SAM and include judicious use
of ready-to-use-therapeutic Food (RUTF). All sections of healthcare providers need to
be trained in the integrated management of SAM.
Key words: Child, Malnutrition, Management, Ready-to-Use-Therapeutic Food.
Mission of the Indian Academy of Paediatrics (IAP):

IAP is in cognizance of the acute necessity of undertaking immediate remedial measures for
an estimated 8 million children below 5 years of age who are suffering from Severe acute
malnutrition (SAM). IAP is committed to provide academic as well as programmatic support
to a concerted national effort in this direction. It commits the service of over 300 branches
and 18,000 Paediatricians for a systematic and structured effort to address this issue.
Paediatrics Guidelines | 297
Introduction:
Severe acute malnutrition is a major public health issue. It afflicts an estimated 8.1
million under-five children in India [1]. Nearly 0.6 million deaths and 24.6 million DALYs
(disability adjusted life years) are attributed to this condition. Diarrhea and pneumonia
account for approximately half the under-five deaths in India, and malnutrition is
believed to contribute to 61% of diarrheal deaths and 53% pneumonia deaths (2).
Thus, strong scientific evidence exists on synergism between under nutrition and child
mortality due to common childhood morbidities including diarrhea, acute respiratory
infections, malaria and measles. In SAM, the case fatality rates related to these
morbidities are excessively high.
The understanding of pathophysiology of SAM (including edematous malnutrition) has
improved. New internationally accepted growth charts have become available, in which
data from Indian children has also been included. Determination of SAM on the basis
of Z-scores using WHO Growth charts is considered statistically more appropriate than
cut-offs based on percentage weight- deficit of the median. Dietary interventions using
WHO F- 75 and F-100 formulae (or analogues) in the management of inpatient care of
SAM have improved outcomes including reduced mortality, early recovery and higher
weight gain. It is possible to implement this intervention in hospitals and healthcare
facilities. Community- based programs have shown success in the management of SAM
in emergency and non-emergency situations. Considering the fact that many children
with SAM can be successfully managed on outpatient basis and even in the community,
it is no more considered necessary to advise admission of all children with SAM in a
healthcare facility. This becomes pertinent in view of the economic and social burden
that hospitalization entails on families that are already battling poverty. Further, our
country does not have sufficient hospital beds for offering inpatient care to all children
with SAM. An integrated management of malnutrition is likely to yield more dividends.
Thus management of SAM should constitute an important component of Integrated
Management of Neonatal and Childhood Illnesses (IMNCI) Program. Management of SAM
should not be a stand alone program. It should integrate with community management
therapeutic programs, and linkages with child treatment center, district hospitals and
tertiary level centers offering inpatient management for SAM.
Process:
A National Consultative Meeting on Integrated Management of Severe Acute Malnutrition
was held in Mumbai on 16th and 17th October, 2010. It was attended by invited experts
in the field (Appendix I). The participants made a list of recommendations after
extensive discussions. A Writing Committee was formed and was entrusted with the task
of drawing a Consensus Statement on the basis of these recommendations.
Diagnosis of SAM:
In children between the ages of 6 and 59 months. Severe acute malnutrition (SAM) is
defined as:
(i) Weight/height or Weight/length < -3 Z score, using the WHO Growth Charts;
OR
(ii) Presence of visible severe wasting;
OR
(iii) Presence of bipedal edema of nutritional origin;
OR
(iv) mid- upper arm circumference (MUAC) <115 mm.
298 | Paediatrics
For infants below 6 months, Criteria (i) or or (iii) above should be used till data on MUAC
below 6 months becomes available. IAP guidelines of 2006 have stated MUAC <110 mm
as one of the criterion. Research in India is required to arrive at critical MUAC that will
screen and produce similar results when we use weight for height <-3 Z score, using
WHO new growth charts, as the criterion. As infants and children from India were also
included while formulating WHO growth charts, a MUAC below 115 mm, as being used
for other countries, should be adopted till we have more Indian data.
Active Detection of Children with SAM:

Early detection of children with SAM will ensure that these children will be identified
before they develop medical complications. This would mean management of many of
them before their prognosis worsens and it would also reduce the need for hospitalized
care [4,5]. Health professionals and healthcare providers should detect children with
SAM at every opportunity provided by health contacts, be it for a medical complaint or
for health promotional measures (e.g. growth monitoring or immunization). This can
be undertaken at every health facility (primary health center and sub-center, health
posts, hospitals, day-care centers, etc) and even in the community and anganwadis by
healthcare workers.
MUAC is a simple measure for the detection of SAM. Screening of children in the
community for SAM can be done using MUAC tape. Good quality, non-stretchable, long
lasting MUAC tapes should be available at every healthcare facility.
Appetite Test:
Appetite test is an important criterion to differentiate a complicated from an
uncomplicated case of SAM and therefore decide if a patient should be sent for in-
patient or out-patient management. Children with SAM who have poor appetite are at
immediate risk of death and they will not take sufficient amounts of the diet at home to
prevent deterioration and death.
This test has not been standardized or published in diverse Indian settings with different
types of therapeutic foods. In the African settings, it is usually conducted in a quiet area
with ready to use therapeutic food (RUTF). In African setting, a child, not consuming the
minimum recommended amount of RUTF (Table I), is labeled as failed ‘Appetite Test’
and is referred for in-patient care. It may be possible to extrapolate these guidelines to
the therapeutic food being used in the Indian setting.
• The appetite test should be carried out at each visit for patients not hospitalized,
particularly those who do not gain weight steadily.
Criteria for Passing Appetite Test:

Body weight (kg) Minimum amount of R UTF to be consumed for passing the Appetite Test (mL or
grams)
>4 15
4-6.9 25
7-9.9 35
10-14.9 50
Failure of an appetite test at any time is an indication for full evaluation and probable
transfer for inpatient assessment and treatment.
• If the appetite is “good” during the appetite test and the rate of weight gain at home is
poor then a home visit would be required because this may indicate a social problem
at household level or extensive sharing of the medical nutrition therapy. A simple “trial
of feeding” at residential care may be needed to differentiate a difficulty with the home
environment from a metabolic problem with the patient.
Triage for Inpatient Care:

Screen Children
Weight for height < -35 or Visible severe wasting or Bipedal edema
of nutritional origin, or Mid-upper arm circumfrences <115mm
Yes No
SAM No SAM
Failed Appetite test,

Prensece of acute medical complication or
Presence of bilateral pitting edema or Age ≤ 6mo
Yes No
Impatient Failed appetite test or medical

Care complication
Outpatient
Care
Discharge
Discharge from inpatient care
Criteria
Child:
• Good Appetite Weight for height ≥ 250
• No edema MUCA > 115mm
• Consistent weight gain (>5gm/kg/d
for 3 consentive days)
Regular Health Care
• Completed appropriate Program Usual health
antimicrobial treatment appropriate promotion activites
immunization intiazed. Follow-up by AWW
Care giver:
Trained, motivated & skilled to
provide care
(Adapted from WHO Growth Standards and identification of Severe Acute Malnutrition in infants and children.
A joint statement of WHO and UNICEF. 2009) (3).
Fig. 1: Identification and management of children with severe acute malnutrition (SAM)
300 | Paediatrics
Triage is undertaken in the community or in any facility that the child is brought initially
to find out if children identified to have SAM need facility care like child treatment
center or district or tertiary hospital. Indications for inpatient care include the following:
(;’) Presence of a medical complication; (/’/) Reduced appetite (as judged on the
basis of a failed appetite test); (iii) Presence of bilateral pitting edema; and (/V) Age <
6 months.
A detailed identification and management plan for children with SAM is provided in
Fig. 1.
Outpatient Care:
Children with SAM who do not have any criterion for inpatient care can be managed
under an outpatient therapeutic program (OTP) center closest to the child’s home. There
is a need to establish such a program as a part of integrated Child Development Scheme
(ICDS)/ RCH- II/ IMNCI-ANM, NRHM-ASHA.
• There is a need to provide “therapeutic food” broadly adhering to the WHO and
UNICEF specifications; this Medical Nutrition Therapy [6] is based on sound scientific
principles with a balanced composition of type 1 and type 2 nutrients for consumption
by children suffering with SAM who are being managed in the community or at home
[7]. One form of “therapeutic food” is ready to use therapeutic food (RUTF), which is
a high-energy food, available in a ready-to-use form with long shelf- life and requiring
no preparation at the point of use. This specific composition has been tested and
proved effective in functional recovery of SAM children, primarily in the African
settings [8], Controlled trials and experience with RUTF in India is limited and further,
there is no robust comparative data documenting the benefits of this formulation over
locally produced analogous medical nutrition therapy or augmented home food.
• A rough guide about the amount of therapeutic food to be consumed is summarized
in Table II below. Breast feeding should be continued while the child is on therapeutic
food. Other foods may be given if child has good appetite and has no diarrhea. The
amount is to be given in 2-3 hourly feeds along with plenty of water.
• There is a need to generate Indian data in this regard so that an effective and safe
therapeutic food that is acceptable to children and meets WHO/ UNICEF specification
can be made available under the program. It must be emphasized to the families and
to the society at large, that the therapeutic food is to be used only in children with
SAM as a part of therapy. It is not meant to be a supplementary food for other children
or a part of regular diet. In order to ensure that the same is readily available and can
reach the target population, appropriate notification(s) for use of such therapeutic
food and for its procurement through institutional mechanisms and its distribution
through appropriate channels e.g. nutrition rehabilitations centers, Anganwadis, etc.
would be ideal and desirable. To ensure that it is not misused, the Government may
consider implementing appropriate restrictions such as restricting its availability only
under the program for children with SAM and prohibiting its widespread availability.
Table II: Amount of therapeutic food to be consumed:
Weight Amount of RUTF per day
3-4.9 kg 105- 130 g/day
5-6.9 kg 200 - 260 g/day
7-9.9 kg 260 - 400 g/day
10- 14.9kg 400-460 g/day
RUTF: ready to use therapeutic food
• Outpatient management is not recommended for children aged six months or less w
ith SAM.
• The caretaker / mother should also be counseled about breast feeding, supplementary
care hygiene, optimal food intake, immunization and other appropriate health
promotional activities.
• Outcome of treatment can be defined as follows:
(a) Non-responder / Primary Failure (/) Failure to gain any weight for 21 days, or (ii)
Weight loss since admission to program for 14 days.
(b) Secondary Failure or Relapse (/’) Failure of Appetite test at any visit or (ii) Weight
loss of 5% body weight at any visit. Non-responders and children who develop a
danger sign at any time during first 4 weeks should be referred to a hospital.
(c) Defaulters’. Not traceable for at least 2 visits.
• Children can be discharged from the program if any of the following criteria are
satisfied: (a) Children admitted to SAM program on the basis of weight for height
criteria should be discharged from the program (end therapeutic feeding) when weight
for height becomes greater than or equal to -2 Z score of WI 10 reference and there
is no edema. (A) Children admitted on the basis of MUAC criteria or presence of
bilateral edema should be discharged (end therapeutic feeding) when MUAC becomes
greater than or equal to 125 mm and there is no edema.
There after, the child can be referred for usual health care program and growth promotion
activities can be ensured by anganwadi workers (AWW), health care workers and health
care providers.
Inpatient Care:
The principles of management are as outlined in the earlier IAP recommendation (9).
The following measures should be undertaken for children requiring inpatient care:
• Admission in a warm area separate from other children with infection
• Prevent, look for and manage: Hypoglycemia, Hypothermia, Dehydration, Electrolyte
disturbances. Infection and sepsis, Micronutrient- Deficiency; using IAP Guidelines
2006 (9).
A. Children above 6 months of age
• Early initiation of appropriate feeding is an important step in the management of SAM.
Therapeutic feeding conforming to F-75 composition can be used as an initial starting
formula in the acute phase, followed by F-100 composition in the rehabilitation phase.
302 | Paediatrics
B. Infants less than 6 months
• Prospect of continuing or re-initiating breastfeeding: Breastfeeding should be
encouraged in children (aged less than 6 months) and having SAM. Supplemental
suckling technique can be used to support and enhance breastfeeding. These
children should be monitored by determining weight gain and amount of supplemental
feeding taken. The supplemental feeding can be slowly withdrawn as the breast milk
output increases and baby shows weight gain. A baby showing consistent weight gain
on exclusive breastfeeding can be discharged from the inpatient facility. The baby’s
growth can then be monitored on outpatient basis.
• No prospect of continuing or re-initiating breastfeeding: These babies should be
treated w ith F- 75 composition therapeutic food in the acute phase and response
monitored in a manner described above.
• It is necessary to monitor the child and check for failure to respond to therapy. Failure
to respond to therapy should prompt a review of the case, assessment of actual
intake and checking for untreated infection and psychological problems.
• Continuation of breastfeeding should be encouraged.
• Sensory stimulation in the form of tender loving care, cheerful stimulating environment,
structured play therapy, initiation of physical activity as soon as the child is well and
maternal involvement in comforting, feeding and play are important aspects of overall
management.
Supplementary Suckling Technique:

• The supplementation is given using tube feedings: the same size as 8NGT (5NGT can
be used and is better for the infant, but the milk should be strained to remove any
small particles that block the tube. The appropriate amount of supplemental suckling
milk is put in a cup. The mother or assistant holds it.
• The end of the tube is put in the cup.
• The tip of the tube is put on the breast at the nipple and the infant is offered the
breast in the normal way so that the infant attaches properly.
• At first, cup should be placed about 5 cm to 10 cm below the level of the nipples so
the SS-milk can be taken with little effort by a weak infant. It must NEVER be placed
above the level of nipple, or else it will flow quickly into the infant’s mouth by siphon
with a major risk of inhalation. As the infant becomes stronger the cup should be
lowered progressively to about 30 cm below the breast. It may take a day or two
for the infants to get used to the tube and the taste of the mixture of milks, but it is
important to persevere.
Children with SAM above 6 months of age can be discharged from the health facility
once the child and the caretaker satisfy all the following criteria.
Discharge:
Discharge should be done when the child has:
• a good appetite (eating at least 120-130 Cal/kg/d) along with micronutrients.
• lost edema.
• shown consistent weight (>5g/kg/d) on three consecutive days:
• completed anti-microbial treatment; and appropriate immunization has been initiated.
Mother or Care-taker:
• Has been trained to prepare and provide appropriate feeding.
• Has financial resources to feed the child.
• Has been motivated to follow the advice given.
Children with SAM below 6 months of age can be discharged from the health facility once
the baby shows consistent weight gain on oral feeds and has no medical complications.
Babies on breast feeding should be showing this weight gain based on exclusive breast
feeding.
Training and involvement of the mother/ caretaker is an important aspect of inpatient
care. After discharge the child should be referred for further care to the appropriate OTP
center and continue the integrated management.
Organizational Issues:
• Inpatient and outpatient treatment should be one Integrated Program.
• The program should be integrated with other existing health programs intended to
provide health promotion activities
• After the initial feasibility testing, the program may be initiated in a few high-
risk districts of the country. After assessing the effectiveness of the programmatic
interventions, the program can be scaled up to involve all the districts in the country
in a phase- wise manner
• The effectiveness of the overall program needs to be monitored in terms of number
of beneficiaries and, improvement in mortality, among others
• The various segments of the program (facility based inpatient care and outpatient
care/ community-level management) need to be linked; so that children can be
followed up and continued care is assured. This would also help in monitoring and
judging effectiveness of the program.
• It is necessary to encourage indigenous commercial production of “therapeutic foods”
with strict quality control.
Training:
• All sections of the healthcare providers need to be trained in the Integrated
management of SAM.
• Paediatricians should be motivated and trained for taking a leadership role at national/
slate/district level as this is a child rights issue.
• Health professionals and medical teachers should be enrolled as trainers for the
program after holding structured training workshops.
• Assessment of the effectiveness of training should be an essential component
of the training program.
• The Universities should be encouraged to accord a prominent position to the detection
and Integrated Management of SAM in the Paediatric curriculum.
Research Priorities:
• Research priorities should address gaps in knowledge related to SAM.
• Programmatic Research for assessing the cost- effectiveness of various interventions
used in the program.
304 | Paediatrics
Public and Media Participation:

The presence of children with SAM is a reality. The program to tackle SAM can only be
successful through media participation and creation of public awareness.
Role of Indian Academy of Paediatrics:

IAP can play an important role in:
• Providing technical advice to the government regarding appropriate interventions and
in formulating management guidelines and training modules.
• Assisting the program through conduct of training programs.
• Creating public awareness and ensuring media participation Recommend the Medical
Council of India and the Universities to include management of SAM in the medical
curriculum for the subjects of Paediatrics and Preventive and Social Medicine.
Funding: UNICEF; Competing interests: None stated.
Worksheet
• MCQ OF “PAEDIATRICS GUIDELINES” FROM DQB

306 | Paediatrics
EXTRA POINTS

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First Published 1999, Delhi Academy of Medical Sciences

© 2021 DAMS Publication

Prader Willi Syndrome

15q11-q13 deletion ~70% (paternal) ~70% (maternal)

Uniparental disomy ~30% (maternal) ~5% (paternal)

Down’s Syndrome (Trisomy 21):

Fig. 1.1: Down’s phenotype

Trisomy 18 (Edward’s Syndrome):

Fig. 1.2: Edward’s Phenotype

Fig.1.3: Patau syndrome phenotype

Trisomy 13 (Patau’s Syndrome):

• Short webbed neck

Fig.1.6: Klinefelter syndrome

• EXTRA POINTS FROM DQB

• Prader Willi syndrome vs Angelman syndrome

I. Defects in Amino Acid Metabolism

1. Phenyl Ketonuria (PKU):

3. Tyrosinemia Type II (Oculo cutaneous Tyrosinemia):

4. Transient Tyrosinemia of Newborn:

5. Classic Homocystinuria ( Homocystinuria Type I ):

6. Maple Syrup Urine Disease (MSUD):

II. Defects in Carbohydrate Metabolism:

GSD IV (ANDERSEN) Brancher * Hepatosplenomegaly Prenatal diagnosis :

III. Lipid Storage Disorders (AR):

Hurler’s Syndrome (Gargolism):

V. Abeta Lipoproteinemia (deficiency of apo - B):

Approach to inborn errors of metabolism (many mcqs asked each year):

• EXTRA POINTS FROM DQB

Carbohydrate Disorder Enzyme Deficiency Treatment

Lipid Storage Disorder Enzyme Deficiency Treatment

Growth: A net increase in the size or mass of tissues

Recent one-liners from DNB exams

One-liners from recent exams:

Important Developmental Milestones in The First 5 Yrs of Life:

Screening Scheme for Developmental Delay: Upper Range

Timing of Selected Primitive Reflexes

Time of appearance in X-ray, of

• EXTRA POINTS FROM DQB

Criteria for failure to respond in PEM:

Note that the day of admission is counted as day 0.

Water Soluble Vitamins:

Diagnosis: based on clinical/ radiological features:

Vitamin B Complex Group:

Calcitriol (1, 25 [OH]2D3)

Primary familial hypophosphatemic rickets (X-linked dominant):

J- Vitamin C - Pseudo paralysis / frog like position.

Extra edge: Bitot spots:

Maintenance Fluid Requirements:

Next 10 kg : 20 ml/kg/day 7days - 3m : 150 ml/kg/day

Composition of Available Fluid (Many Recent MCQs):

mosm/L (meq/L) (meq/L) (meq/L) mosm/L

0.9% DNS - 154 - 154 - 308

5% DNS 277 154 - 154 - 585

0.45% DNS 277 77 - 77 - 431

N/4 Glucose 207 37.5 - 37.5 -

N/4 Glucose 207 37.5 20 57.5 -

Saline with 15%

Ringer Lactate - 131 5 111 29

Acid Base Disorders:

(Normo chlorenemic Acidosis) (Hyper chlorenemic Acidosis)

Cephalhematoma crossing midline indicates an underlying # of skull.

1. Temperature maintenance in term v/s preterm neonates

Age (hr) Phototherapy Phototherapy + Exchnage Trsf