Q-91. Which of the following statement about cystic fibrosis (CF) is not true?

a) Autosomal recessive disorder

b) Abnormality in CFTR which leads to defective calcium transport
c) Mutation in cystic fibrosis transport regulator
d) None

Answer: Abnormality in CFTR which leads to defective calcium transport

Explanation:
The gene for cystic fibrosis is on the long arm of human chromosome 7 and codes for the cystic fibrosis trans-
membrane conductance regulator (CFTR) protein.
CFTR can regulate multiple ion channels and cellular processes including:
Chloride channels
Potassium channels
Gap junction channels
Bicarbonates ions
The most common mutation, called delta F508 is a deletion of three base pairs at position 508 in the gene.
The gene mutation leads to defects or deficiency in CFTR causing cell to produce abnormally thick mucus.
Clinical findings in newborn:
Meconium ileus
Failure to thrive
Recurrent respiratory distress
Elevated immuno-reactive Trypsinogen (Pancreatic enzyme precursor in blood)
Sweat chloride > 60 m mmol/L
Important point:
Initial airways colonization: Staph aureus
Most common organism and rapid declination in pulmonary function: Pseudomonas aeruginosa

Q-92. A child comes with steroid resistant nephritic syndrome secondary to FSGS, not responsive to methyl-
prednisolone. What next should be given?
a) Oral Cyclophosphamide
b) Oral cyclosporine
c) Oral Mycophenolate
d) IV Cyclophosphamide

Answer: Oral cyclosporine

Explanation:
The steroid sparing agents for Nephrotic syndrome:
Levamisole
Cyclophosphamide
Mycophenolate Mofetil
Rituximab
Cyclosporine and tacrolimus
Important point:
Calcineurin inhibitors (Cyclosporine and tacrolimus) are most effective drugs for steroid resistant nephrotic syndrome.

Q-93. A previously healthy 6 week old female infant is found unresponsive in her crib. In the emergency department she
is noted to be well developed and well nourished with normal blood pressure and appearance of the genitalia but with
increased pigmentation of her skin. Blood glucose level is 30 mg/dl. The most likely diagnosis is
a) CAH due to 21 alpha hydroxylase deficiency
b) Familial glucocorticoid deficiency
c) Cushing syndrome
d) Insulinoma

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 Answer: Familial glucocorticoid deficiency
Explanation:
Familial glucocorticoid deficiency:
Rare autosomal recessive condition
Deep hyper-pigmentation of skin or mucous membrane or both
Severe infection
Feeding problem and failure to thrive
Recurrent hypoglycemia/ Seizures

Q-94. A 2 month old infant is presented with failure to thrive, recurrent emesis, hepato-splenomegaly and adrenal
insufficiency. Adrenal calcification is noted radiologically. The most likely diagnosis is
a) Adrenal hemorrhage
b) Wolmans disease
c) Pheochromocytoma
d) Addisons disease

Answer: Wolmans disease

Explanation:
Wolmans disease:
Autosomal recessive
Accumulation of cholesterol esters and triglycerides in lysosomes in of reticulo-endothelial system
Onset in infancy with GI symptom and hepato-splenomegaly
Adrenal is commonly enlarged and calcified.
Death by 3-6 months

Q-95. All of the following statement about congenital rubella are true except
a) IgG persists for more than 6 months
b) IgM antibody is present at birth
c) Most common anomalies are hearing and heart defects
d) Increased risk of congenital malformation if infection occur after 16 weeks

Answer: Increased risk of congenital malformation if infection occur after 16 weeks

Explanation:
IgM antibody is present at birth
IgG persists for more than 6 months
Increased risk of congenital malformation if infection occur after 11 weeks
Most common anomalies associated with first trimester infection:
Hearing loss
Eye defects
Heart diseases

Q-96. A 5 yr old boy presents with pubic hair development. He is tall and has increased pigmentation of his genitalia
and phallic enlargement. Blood pressure is 130/90 mm Hg. Measurement of which of the following hormones would be
most likely to be diagnostic
a) Increase 17- hydroxyl progesterone
b) Increase cortisol
c) Increase aldosterone
d) Increase 11-deoxy-cortisol

Answer: Increase 11-deoxy-cortisol

Explanation:
Congenital adrenal hyperplasia due to 11- hydroxylase deficiency:
An enzymatic defect in 11-beta-hydroxylase is the second most common variant of congenital adrenal hyperplasia.
Patients with 11-beta-hydroxylase deficiency present with features of androgen excess, including masculinization of

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 female newborns and precocious puberty in male children.
Hypertension
Mineralocorticoid excess
Hypokalemia
Metabolic alkalosis

Q-97. Which of the following is not a feature of juvenile idiopathic arthritis?

a) Rheumatoid nodules
b) Spikes of high fever
c) Uveitis
d) Raynauds phenomenon

Answer: Raynauds phenomenon

Explanation:

Q-98. A 4 week old female child with normal genitalia presents to the emergency department with severe dehydration,
hyper-kalemia and hypo-natremia. The measurement blood levels of which of the following will helpful?
a) 17-hydroxy progesterone
b) Rennin
c) Cortisol
d) Aldosterone

Answer: Aldosterone
Explanation:
Aldosterone deficiency:
Dehydration
Salt wasting
Hypo-natremia
Hyper-kalemia
Failure to thrive
Normal genitalia

Q-99. A 3.5 kg male infant born at term after an uncomplicated pregnancy and delivery develops respiratory distress
shortly after birth and requires mechanical ventilation. The chest radiograph reveals a normal cardiothymic silhouette
but a diffuse ground glass appearance to the lung fields. Surfactant replacement fails to improve gas exchange. Over the
first week life, the hypoxemia worsens. Results of routine culture and echo-cardio-graphic finding are negative. A term
female sibling died at 1 month of age with respiratory distress. Which of the following is the most likely diagnosis?
a) Total anomalous pulmonary venous return
b) Meconium aspiration
c) Neonatal pulmonary alveolar proteinosis
d) Disseminated herpes simplex infection

Answer: Neonatal pulmonary alveolar proteinosis

Explanation:
Neonatal pulmonary alveolar proteinosis:
Pulmonary alveolar proteinosis is an extremely rare cause of respiratory failure in the pediatric age group.
Pulmonary alveolar proteinosis is characterized by intra-alveolar accumulation of surfactant, namely lipid and
proteinaceous material.
Clinical findings:
Neonatal respiratory distress
Failure to thrive
Fever
Family history- Autosomal recessive disease
The chest radiograph: Diffuse ground glass appearance to the lung fields.

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 Q-100. A pregnant lady had no complaints but mild cervical lymphadenopathy in first trimester. She was prescribed
spiramycin but she was noncompliant. Baby was born with hydrocephalous and intra-cerebral calcification. Which of
these is likely cause?
a) Rubella
b) Toxoplasmosis
c) CMV
d) Herpes

Answer: Toxoplasmosis
Explanation:
Classical triad of congenital toxoplasmosis:
Chorio-retinitis
Intra-cranial calcification
Hydrocephalous
Acute maternal toxoplasmosis:
Cervical lymphadenopathy
Maculo-papular rashes
Fatigue and lassitude

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