Q-1. A male child with Fanconi syndrome with nephro-Calcinosis has a variant of Dent disease. All are true except
a) Hyper-calciuria
b) Proteinuria
c) Similar presentation in father
d) Rickets
Answer: Similar presentation in father
Explanation:
Dent disease is an X linked renal tubular disorder.
The disease is caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes that are located on chromosome Xp11.22 and Xq25, respectively.
Dent’s disease is a familial proximal renal tubular disorder which is associated with low molecular weight proteinuria, hyper-calciuria, Nephro-Calcinosis, kidney stones, rickets and renal failure.
Important point:
X linked diseases cannot be transmitted from father to son.
Q-2. Most common organism associated with cystic fibrosis?
a) Pseudomonas aeruginosa (non mucoid)
b) Burkholderia cepacia
c) Pleisomonas
d) Aeromonas
Answer: Pseudomonas aeruginosa (non mucoid)
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-3. 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-4. 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-5. 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-6. 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-7. 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-8. 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-β 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-β 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 female newborns and precocious puberty in male children.
Hypertension
Mineralocorticoid excess
Hypokalemia
Metabolic alkalosis
Q-9. 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-10. 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-11. 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.
Q-12. 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
Q-13. Hypoplasia of limbs & scarring is caused due to
a) Varicella
b) Herpes simplex
c) Rubella
d) Toxoplasma
Answer: Varicella
Explanation:
Congenital Varicella Syndrome:
Limb hypoplasia
Cutaneous scars
Microcephaly
Cortical atrophy
Chorio-retinitis
Cataracts
Q-14. In a child with respiratory distress, failure to thrive. His sweat chloride levels were estimated (35 meq/ L and 41 meq/ L). What is next best test to do cystic fibrosis for diagnosis?
a) Nasal trans-membrane potential difference
b) DNA analysis ΔF-508 mutation
c) CT chest
d) 72 hour fecal fat estimation
Answer: Nasal trans-membrane potential difference
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
Clinical findings in children
Recurrent chest infections
Pancreatic exocrine deficiency mainly manifests as Steatorrhoea which is characterized by passage of bulky, foul smelling, pale and greasy stool due to mal-absorption and increased fecal fat content.
Important point:
Initial airways colonization: Staph aureus
Most common organism and rapid declination in pulmonary function: Pseudomonas aeruginosa
A normal sweat chloride doesn’t exclude the diagnosis.
Measurement of nasal trans-membrane potential difference can be useful adjunct in diagnosis of the cystic fibrosis.
Q-15. A study under Australian collaborative trial on steroids use in neonates was done. Which of the following is true?
a) No difference between placebo & corticosteroid
b) Corticosteroid to children causes behavioral worsening
c) Corticosteroid to children causes reduction in head circumference
d) Corticosteroid to children causes neuro sensitivity degradation
Answer: Corticosteroid to children causes behavioral worsening
Explanation:
Q-16. International prognostic index for lymphomas includes the following prognostic factors except
a) Stage of disease
b) Number of extra-lymphatic sites involved
c) LDH
d) Hemoglobin and albumin
Answer: Hemoglobin and albumin
Explanation:
International prognostic index for lymphomas:
The patient’s age
The stage of the lymphoma
Number of extra-lymphatic sites involved
Performance status (PS)
Serum LDH
Q-17. A child is admitted on 7 days of life with severe respiratory distress and shock. He was discharged 2 days back healthy. What could be the probable diagnosis?
a) VSD Large
b) Hypoplastic left heart syndrome
c) Ebstein anomaly
d) AP window defect
Answer: Hypoplastic left heart syndrome
Explanation:
Childs with hypo-plastic left heart syndrome might not have trouble for the first few days of life while the patent ductus arteriosus and the patent foramen ovale (the normal openings in the heart) are open, but quickly develop signs after these openings are closed, including:
Problems breathing
Pounding heart
Weak pulse
Ashen or bluish skin color
Q-18. Ductus dependent blood flow is required for all of these congenital heart disease except
a) Persistent truncus arteriosus
b) Hypoplastic left heart syndrome
c) Pulmonary stenosis
d) TGA with intact ventricular septum
Answer: Persistent truncus arteriosus
Ductal independence:
TAPVR
Truncus arteriosus
Anomalous origin of the left main coronary artery from the pulmonary artery