An Approach to Pediatric

Problems
Dr Kiran P Sathe.
 General Tips for Entrance Exams
• Identify the commonly asked theory topics
• Objective way of understanding and reading
• Try to remember the “most common”
aspects for any disease
• Grouping helps to remember better
• Group discussion helps to remember better
HEMATOLOGY- ONCOLOGY
 Anemia
• Normal physiological polycythemia at birth
• Physiological anemia of infancy
• Deficiency, hemolysis, hemorrhage, marrow
• Age of onset, specific h/o, ethnicity, family
h/o
• Growth, cong anomalies, petechia, L,S,LN,
jaundice
 Marrow
deficiency Hemolysis hemorrhage
disease
Mostly chronic, Acute- manifest Acute,
onset chronic
rarely acute Chronic- occult Rare- chronic

Mostly-
occurence acquired
congenital
acquired acquired

-( aplasia)
L/S - + -
+( leukemia)
N
↓ B12 def
Plt ↑Fe def
↓ ↑ ↓
hypersplenism
↑ Aplasia-↓
WBC N
(normoblasts)
N
Leukemia-↑
 MCV, RDW
MCV
low Normal High
RDW- N RDW- RDW- N
↑ RDW-↑
Thal RDW- ↑
Chr disease, Mixed def, RDW- N
trait, Fe def, B12,
sherocytosis, Sideroblas Aplasia
Chronic Thal Folate def
disease major hemorrhage tic
 Bleeding Disorder
• Platelet disorder- superficial
bleed, purpura, spontaneous
• Coagulation defect-Deep
bleed- hematoma/
hemarthrosis, provoked
 Screening test
Platelet PT PTT Disease

Low N N ITP/ Aplastic/ Leukemia

Low High High DIC

Liver dysfn,
N High N
Vit K def
N N High Coagulation defect

N High High Advanced liver failure

Factor XIII def, vascular purpura, battered baby,

N N N
fictitious
Peripheral smear- RBC morphology
• Schistocytes- MAHA
• Spherocytes-HS, AHA
• Sicled RBC- SCD
• Target cells- Hemolysis
• Stippled RBCs- Pb poison
• Increased polychromasis- Reticulocytosis
• bite./ ghost cells- G6PD def
Coagulation pathway
Intrinsic Extrinsic
12, 11, 9, 8 7

Stem
10,5,2 1, 13
• Prolonged PT- Extrinsic
• PTT- Intrinsic
• Both- 10, 5, 2 def or DIC
• Only PTT prolonged-
• 12( never clinically manifests), 11, 9, 8
• PTT corrected by plasma- factor 8 def,
• adsorbed serum- Factor 9 def
• Prolonged BT- platelet functional defect
• TT- fibrinogen deficiency (factor 1)
• Urea stability test- Factor 13 def

• For bleeding disorder- tests to be asked

• CBC (platelet count), PT, PTT, BT, TT, UST
 Constitutional Aplastic
( fanconi anemia)
• Progressive pancytopenia
• Macrocytosis
• Multiple congenital anomalies
• Increased chromosomal breakage
in peripheral blood lymphocytes
 Acquired aplastic anemia
• Weakness and pallor
• Petechie, purpura, bleeding
• Frequent or severe infections
• Pancytopenia with hypocellular
marrow
 Congenital hypoplastic anemia
( Diamond Blackfan Anemia)
• Age- birth to 1 yr
• Macrocytic anemia with
reticulocytopenia
• Erythroid hypoplasia on BM
• Short strature or congenital
anomalies in some
 Transient Erythroblastopenia of
childhood
• Age- 6 mo – 4 yrs
• Normocytic anemia with
reticulocytopenia
• No L, S LN enlargement
• Erythroid precursors initially absent
from BM
 Fe deficiency
• Pallor, fatigue
• Poor dietary intake of Fe ( age 6- 24
mo)
• Chronic blood loss ( age > 2 yrs)
• Microcytic hypochromic anemia
 Megaloblastic anemia
• Pallor and fatigue
• Nutritional deficiency or
intestinal malabsorption
• Macrocytic anemia
• Megaloblastic BM changes
 Conenital Hemolytic anemia
Membrane defects
Hereditary spherocytosis
• Anemia and jaundice
• Splenomegaly
• Family h/o anemia, jaundice, gall stones
• Spheroctyes with increased retic count
• Increased osmotic fragility
• Negative direct antiglobulin test
Hb chain synthesis
 Disease
HbEPP HbF (%) HbA2 (%)
Hb electrophoresis
Normal HbA predominates <2 <3
Sickle disease HbS predominates
5-20 <3
HbA absent
Sickle trait HbA, S present <2 <3
HbSC Hb S, C present <2 <3
S ᵝ thal HbS predominates
2-30 <3
HbA absent
B-thal major
HbF predominates
10-90 <8
HbA absent or diminished
B-thal minor HbA predominates <8 <10
α thal Hb barts, HbH, HbA <2 <3
 Hemoglobinopathy
alpha thalassemia
• microcytic hypochromic anemia of
variable severity
• Hb Barts on neonatal screening
• N, silent carrier, α- thal trait, HbH, fetal
hydrops ( based on number of missing α
chains)
 B-thalassemia
• Normal neonatal screening test
• Mild microcytic hypochromic anemia
B- minor • No response to Fe therapy
• Elevated HbA2

• Neonatal screening- only HbF present

B- major • Severe microcytic hypochromic anemia
with HS megaly
 Sickle cell disease
• Neonatal screening test- HbFs, HbFSC, HbFSA
• Anemia, elevated retic, jaundice
• Recurrent episodes of musculoskeletal or
abdominal pain
• Splenomegaly in early childhood, later
disappearance
• High risk of bacterial sepsis
 G6PD def
• Neonatal hyperbilirubinemia
• Sporadic hemolysis with
infection or oxidant drug
ingestion or fava beans
• X- linked
 Autoimmune hemolytic anemia
• Pallor, fatigue, jaundice, dark urine
• Splenomegaly
• Positive DAT
• Reticulocytosis and spherocytosis
 Neutopenia
• Increased frequency of infections
• Ulceration of oral mucosa and gingivitis
• Normal no of RBC and platelets
• ANC < 1500 /𝜇L
• Viral infections, drugs
• Syndromes
• Storage and metabolic diseases
 Neutrophil function defects
• Chediak- Higashi syndrome
• LAD I, II,
• CGD
• MPO def
• Specific granule def
 Eosinophilia
• AEC >300 /𝜇L
• Eczema, drugs, tumours, parasites,GI
disorders, histiocytosis, immunodeficiency.

• Hypereosinophilic syndrome-AEC > 1500/𝜇L

• Organ affection- L,S,cardiomyopathy,
pulmonary fibrosis, CNS damage
 Thrombocytopenia
• Increased destruction:
• Ab mediated- ITP, infection, Immunologic
• Coagulopathy-DIC, sepsis, NEC, thrombosis,
cavernous hemangiomas
• Others-HUS, TTP, Hypersplenism,WAS,RDS
• Decreased production:
• Congenital-TAR,metabolic,osteopetrosis
• Acquired-aplastic,leukemia,B12, folate deficiency
 ITP
• Otherwise healthy child
• Thrombocytopenia
• Petechia, ecchymosis
 Platelet function defects
• Congenital- platelet- vessel interaction
• platelet- platelet interaction
• platelet granule content
• Syndromes
• Acquired- drugs, infection, organ failure
• BT, platelet aggregation assay
 Hemophilia A, factor 8
• Bruising, soft tissue bleed, hemarthrosis,
• Prolonged PTT
• Low factor 8 activity

• VW disease:
• Easy bruising and epistaxis from early childhood,
menorrhagia
• Prolonged PFA-100, or BT
• Reduced activity / abormal structure of VWF
• DIC- underlying trigger
• Consumptive coagulopathy
• Prolonged PT, PTT, TT, ↑FDP, ↓fibrinogen or
platelets.
• HSP- anaphylactoid / vascular purpura
• Palpable purpuric rash, migratory joint
affection, intermittent abdominal pain,
nephritis.
 MCQs
1. Regarding fanconi anemia false is?
a. AD inheritance
b. Chrosmosomal instability
c. Increased HBF
d. Decreased survival
2. A 9-year-old girl has bleeding diathesis with
prolonged aPTT but normal PT and normal
platelet count. What is the most probable
diagnosis?
a. Hemophilia A
b. Hemophilia B
c. vonWillebrand’s disease
d. Factor V mutation
3. A newborn baby presented with
profuse bleeding from umbilical stump
after birth. Most likely diagnosis is
a. Factor XIII deficiency
b. VWF deficiency
c. Factor XII deficiency
d. Glanzmann thrombasthenia
4. A 5-year-old boy comes with overnight
petechial spots. Two weeks back he had history
of abdominal pain and no hepatosplenomegaly.
Most likely diagnosis nof this patient is
a. Acute lymphatic leukemia
b. Aplastic anemia
c. Idiopathic thrombocytopenic purpura
d. Acute viral infection
5. Primary site of hematopoiesis in
the fetus before mid pregnancy is
a. Bone
b. Liver
c. Spleen
d. Lung
6. Which of the following is not
true of thalassemia major?
a. Splenomegaly
b. Target cells on peripheral smear
c. Microcytic hypochromic anemia
d. Increased osmotic fragility
7. A 15-year-old female presented to the emergency department
with history of recurrent epistaxis, hematuria and hematochezia.
There was a history of profuse bleeding from the umbilicus
stump at birth. Previous investigations revealed normal
prothrombin time, activated partial thromboplastin time,
thrombin time and fibrinogen levels. Her platelet counts as well
as platelet function tests were normal but urea clot lysis test was
positive. Deficiency of which of the following clotting factor is
responsible for this?
a. Factor X
b. Factor XI
c. Factor XII
d. Factor XIII
8. The earliest indicator of response
after starting iron in a 6-year-old girl
with iron deficiency is
a. Increased reticulocyte count
b. Increased hemoglobin
c. Increased ferritin
d. Increased serum iron
9. At what gestation does the switch over
from fetal to adult hemoglobin synthesis
begin?
a. 30 weeks
b. 36 weeks
c. 7 days postnatal
d. 3 weeks postnatal
10. Which of the following is not feature of
idiopathic thrombocytopenic purpura
(ITP)?
a. More common in females
b. Petechiae, ecchymosis and bleeding
c. Palpable splenomegaly
d. Increased megakaryocytes in bone
marrow
 ALL
• MC pediatric malignancy (2-10 yrs)
• Down syndrome
• BMA/ biopsy- >25% lymphoblasts
• Pallor, petechia, purpura(50%),
• bone pain (25%) HSmegaly(60%),LN (50%)
• Single or multiple cytopenias(99%)
• Leucopenia (15%), leucocytosis(50%) with
lymphoblasts on PBS
 AML
• BM >20% leukemic blasts
• Fatigue bleeding, infection
• Adenopathy, HSmegaly,skin nodules,(M4, M5)
• Cytopenias:neutropenia(69%),anemia(44%),
• thrombocytopenia(33%)
• Syndromes and chromosomal breakage
associated- FA, DBS,NF, Down,WAS,Kostmann
 AML
• M2-chloroma
• M3-DIC, retinoic acid therapy
• M4-gum skin, CNS
• M6-erythroleukemia
• M7-down syndrome
 Myeloproliferative diseases
• CML- >3 yrs, Ph+
• TMD- <3 mo, Trisomy 21
• JMML- <2 yrs eczematous
rash, bleeding, HbF+
 Brain tumours
• MC solid pediatric tumour
• NF, TS
• 2 yrs- infratentorial tumour (post
fossa)
• >2 yrs- supratentorial tumour
 HD
• Painless cervical (70-80%) or
supraclavicular ( 25%) adenopathy,
mediastinal mass (50%)
• Fatigue, anorexia, wt loss, fever,
night sweats, pruritus, cough
• Autoimmune HA, ITP associated
 NHL
• Cough, dyspnoea, orthopnoea, swelling of
face, LN, mediastinal mass, pleural effusion
• Abd pain, abd distention, vomiting,
constipation, abd mass, ascites, HS megaly
• Adenopathy, fever, neurodeficit, skin lesions
• Association- immune deficiency-WAS, SCID,
XLPD, HIV, immunosuppression post organ
transplantation
 Neuroblastoma
• Bone pain, abd pain, anorexia, wt loss, fatigue,
fever, irritability
• Abd mass (65%)- crosses midline, adenopathy,
proptosis, periorbital ecchymosis, skull masses,
subcutaneous nodules, racoon eyes hepatomegaly,
spinal cord compression
• Small round blue cell tumours
• Horner synd, heterochromia, opsomyoclonus
 Wilms tumour (Nephroblastoma)
• Asymptomatic abdominal mass or
swelling (83%)
• Fever( 23%), hematuria (21%)
• Hypertn( 25%), GU anomalies (6%),
aniridia, hemihypertrophy
 LCH
• Seborrheic skin rashes
• Diaper rash
• Draining ears
• Bone pain
• Diabetes insipidus
• Punched out skull lesions
 MCQs
1.All of the following are true about neuroblastoma
except
a. It is the most common extracranial solid tumor in
children
b. More than 50% of patients presents with
metastasis at the time of presentation
c. Lung metastasis common
d. Involve aorta and branches at early stage
2.Which one of the followings is the
postchemotherapy based staging system in
Wilm’s tumor for prognosis?
a. National Wilm Tumor Study Group (NWTSG)
staging system
b. AJCC TNM
c. Chadwick
d. International Society of Pediatric Oncology
(SIOP)
3.Which of the followings is NOT correct
about Cerebellar astrocytoma?
a. Common in first two decades of life
b. More Common in females than males
c. Low grade tumor
d. Good prognosis
4.MC inherited malignant tumor
in childhood is
a. Leukemia
b. Retinoblastoma
c. Neuroblastoma
d. Wilm’s tumor
5. Which of the following syndromes
is not associated with AML?
a. Down’s syndrome
b. Klinefelter’s syndrome
c. Patau syndrome
d. Turner’s syndrome
6. Of the following malignant tumor of
childhood most commonly
metastasize to bones?
a. Wilms’ tumor
b. Neuroblastoma
c. Adrenal gland tumors
d. Granulose cell tumor of ovary
7. A 2-year-old child comes with ear discharge,
seborrheic dermatitis, polyuria and
hepatosplenomegaly. Most probable
diagnosis is
a. Leukemia
b. Lymphoma
c. Langerhans’ cell histiocytosis
d. Germ cell tumor
 Immunodeficiency, ( rule out local anatomic causes, FB,
secondary causes)
Primary ID
Combined T & B AB (B) defect
lymphocyte defect
Phagocyte Complement
>3-6 mo age defect
<6 mo age defect
Encapsulated
Recurrent diarrhea, bacteria, Early onset neisseria
herpes, Candida,,
opportunistic, Giardia, polio Skin, oral cavity meningitis
bacteria Malabsorption infection autoimmune
GVHD
Autoimmunity Suppuration SLE, etc
Disseminated BCG
Lymphoreticular
Absent Thymus malignancy Cold abscess
 Genetic syndromes- Bloom,TCA2,Trisomy
21, Turner, chediak higashi, Griscelli,
Netherton, cartilage hair hypoplasia
Combined Ab def Phagocyte Complement
• SCID • Agama • Neutropenia • Factor def
• WAS • Hypogama • CGD • C1 esterase
• Di George • CVID • LAD I, II
• AT
• PNH
• IgA def • G6PD def
• HyperIgM • HyperIgM • MPO def
• INF-ϒ &
• IL-12 def
• Which of the following is not a
characteristics of Ataxia
telangiectasia?
a. Chronic sinopulmonary disease
b. Decreased level of a-fetoprotein
c. Chromosomal breakage
d. IgA deficiency
 Rheumatology
• JIA (6-12 wks duration of arthritis)
1. Systemic( still) 10-15%
2. Polyarticular RF -/+ 35% >= 4 jts ( anti-CCP)
3. Oligoarticular/ pauciarticular 50% <=4 jts
• Asymptomatic uveitis ( 30%), ANA +
persistent/ extended
4.Enthesitis related arthritis
5. Psoriatic arthritis
6. Undifferentiated
SLE- multisystem autoimmune inflammatory affection of Jt,
skin, kidney, serosa, blood, CNS
ANA, Anti-dSDNA, Anti- Sm, histone, Ro, La

JDM-Heliotrope Scleroderma- MCTD-U1RNP

rash, gottron morphea,
papule, linear- MC C-ANCA- PR3
calcinosis,vascul P-ANCA- MPO
SCL-70
itis,prox
myopathy Centromere Ab ACLA-APLA
 MCQs
1. All of the following sentences are TRUE regarding
Kawasaki Disease EXCEPT
a. It is the most common cause of vasculitis in
children
b. 25% patients develop coronary aneurysms
c. LN biopsy is diagnostic
d. Ig is used in treatment only in patients with
aneurysm
2 . Commonest leukocytoclastic
vasculitis affecting children is
a. Takayasu disease
b. Mucocutaneous lymph node
syndrome. (Kawasaki disease)
c. Henoch-Schönlein purpura
d. Polyarteritis nodosa
3. Which of the following is feature of
systemic juvenile rheumatoid
arthritis?
a. Uveitis
b. Rash
c. Fever
d. Hepatosplenomegaly
4 . Treatment of Kawasaki disease
in children is
a. Oral steroids
b. IV steroids
c. IV Ig
d. Mycophenolate mefentil
Endocrinology
MPH, Target Ht
FSS: BA=CA >HA
CSS: HA=BA<CA
 Central Diabetes Insipidus
• Polyuria,polydipsia(>2L/m²/d), nocturia,
dehydration,↑Sr Na
• Inability to concentrate urine after fluid restriction(
U sp gravity <1010, U osm < 300mOsm/Kg)
• Plasma osmolality >300 with Uosm <600
• Low plasma vasopressin with antidiuretic response
to exogenous vasopressin
• Syndromes, MRI brain
 Hypothyroidism
Congenital- Aplasia, hypoplasia, ectopia,
dyshormonogenesis, maternal goitrogen,
I₂ def, Hypopituitarism
Acquired-chronic lymphocytic thyroiditis,
thyroidectomy, irradiation, drugs(iodides),
infiltrative disease( cystinosis),
Hypopituitarism
• Primary, Secondary, Tertiary
 Congenital Hypothyroidism
• Growth retardation, lethargy, Wt gain,
constipation, dry skin, cold intolerance,delayed
puberty
• Neonate –thick tongue, large fontanels,
hypotonic, umbilical hernia, jaundice, intellectua
retardation
• T4, FT4, T3 resin uptake –low.
• TSH elevated in primary hypothyroidism
 Hyperthyroidism
• Nervousness, emotional lability,
hyperactivity,fatigue, tremor, palpitations,
excessive apetite, wt loss, sweating,heat
intolerance
• Goiter, exopthalmos, tachycardia, wide PP,
systolic HTn, weakness, warm skin
• TSH suppressed, thyroid hormones elevated
 Hypocalcemia
• Tetany, paraesthesia, trouseau, chovostek,
carpopedal spasm, loss of consciousness,
convulsions
• Diarrhoea, prolonged electrical systole
( QT interval), larygospasm
• Defective nails, teeth, cataracts, ectopic calcification
in subcutaneous tissue and basal ganglia-
hypoparathyroidism, pseudohypoparathyroidism
 Hypercalcemia
• Abdominal pain polyuria, polydipsia,
HTn, nephrocalcinosis, FTT, renal
stones, peptic ulcer, constipation,
uremia, pancreatitis
• Bone pain, pathological fractures
• Impaired concentration, coma
 Ambiguous genitalia
Disorder of gonadal differentiation
Pure gonadal dysgenesis
Disorders of Syndromes
Disorders of androgen VATER
steroidogenesis action WAGR
Denys-drash
CAH Androgen Smith-lemli-opitz
insensitivity Maternal androgens
Delayed puberty
 Adrenal
a. Addison disease
b. CAH-precocious puberty in males
Ambiguous genitalia in girls
salt losing crises, ↑17 OHP, ↓Na, ↑K,
met acidosis
Increased linear growth, advanced BA
c. Cushing syndrome
 Diabetes Mellitus
Type 1
•IDDM, Juvenile onset, autoimmune

Type 2
•NIDDM, adult onset
• Chromosoal-trisomy 21, klinefelter, Turner
• Metabolic-CF, GSD 1,hyperlipoprotenemia
Secondary • CNS disease- AT, Fredreich ataxia
• Obesity- laurence moon Biedle, Pradar Willi
 MCQs
1.A 5-year-old male presented with enlarged phallus
and increased pigmentation of the genitalia and
developed pubic hair; his height is 104 cm. Which
of the following estimation can help to reach the
diagnosis?
a. 11-deoxy cortisol
b. Deoxycorticosterone
c. 17-hydroxy progesterone
d. Aldosterone
2. A 10-month-old baby previously normal suddenly
died in his crib in intensive care unit. On physical
examination hyperpigmentation present and genitalia
were normal. On laboratory examination findings,
blood glucose was 30 mg%. What is the most probable
diagnosis?
a. 21-Hydroxylase deficiency
b. Hyperinsulinemia
c. Familial glucocorticoid deficiency
d. Cushing’s syndrome
3.Which of the following occurs first
during puberty in females?
a. Thelarche
b. Pubarche
c. Menarche
d. Growth spurt
4. Most common cause of delayed
puberty in males is
a. Constitutional delay
b. Klinefelter’s syndrome
c. Noonan syndrome
6.Commonest cause of short
stature is
a. Constitutional
b. Systemic diseases
c. Hypothyroidism
d. Growth hormone deficiency
7. A child is below the third percentile for
height. His growth velocity is normal, but
chronologic age is more than skeletal age.
Which of the following is probable diagnosis?
a. Constitutional delay in growth
b. Genetic short stature
c. Primordial dwarfism
d. Hypopituitarism
8. Earliest manifestation of Cushing’s
syndrome is
a. Loss of diurnal variation
b. Increased ACTH
c. Increased plasma cortisol
d. Increased urinary metabolites of
cortisol