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 d efective calcium transport Explanation: The gene for cystic fibrosis is on the long arm of human chromosome 7 and codes for the cystic fibrosis transmembrane 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
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) Wolman’s disease c) Pheochromocytoma d) Addison’s disease Answer: Wolman’s disease Explanation: Wolman’s 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-ß 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-ß 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 and rogen excess, including masculinization of
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) Raynaud’s phenomenon Answer: Raynaud’s 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 diag nosis? 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 cau se 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 appe arance to the lung fields.
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
