19 - Paediatrics Mcqs - 141 to 151

141 - Conjugated hyperbilirubinemia is seen in:
A. Gilbert’s syndrome
B. Griggler Najjar syndrome
C. Breast milk jaundice
D. Dubin Johnson syndrome

Ans. (D) Dubin Johnson syndrome
(Ref: Nelson’s Textbook of Pediatrics 17th Ed, Ch. 338, P-1321)

142 - 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 c1ot Jt. positive. Which one of the following clotting factor is most likely to be deficient?
A. Factor X
B. Factor XI
C. Factor XII
D. Factor XIII

Ans. (D) Factor XIII
(Ref: Nelson Pediatrics 17th Ed/P-1661)

143 - Which one of the following is the characteristic feature of juvenile myoclonic epilepsy?
A. Myoclonic seizures frequently occur in morning
B. Complete remission is common
C. Response to anticonvulsants is poor
D. Associated absence seizures are present in majority of patients

Ans. (A) Myoclonic seizures frequently occur in the morning
(Ref: Harrison’s Principles of Internal Medicine 16th Ed. 2005—Part XV-Neurologic Disorders;Sec. 2-Diseases of the Central Nervous System;Ch. 348-Seizures and Epilepsy)
*Here is a short notes on Juvenile Myoclonic Epilepsy (Janz syndrome)

144 - Plethoric lung fields are seen in all of the following conditions, except:
A. Atrial septal defect (ASD)
B. TAPVC (Total Anomalous Pulmonary venous connection)
C. Ebstein’s anomaly
D. Ventricular septal defect

Ans. (C) Ebstein’s anomaly
(Ref: Review of Radiology 3rd Ed/p-42-43)

145 - Which of the following is an example of disorders of sex chromosomes?
A. Marfan’s syndrome
B. Testicular feminization syndrome
C. Klinefelter’ s syndrome
D. Down’s syndrome

Ans. (C) Klinefelter’ s syndrome
(Ref: Robbins and Cotrans’s Pathologic Basis of Disease 7th Ed/P-145)

146 - Which of the following haemoglobin (Hb) estimation will be diagnostically helpful in a case of beta thalassemia trait?
A. Hb-F 
B. Hb1C
C. Hb-A2 
D. Hb-H

Ans. (C) Hb-A2
(Ref: Nelsons Pediatrics 17th Ed/P-1633)

147 - Which of the following circulating antibodies has the best sensitivity and specificity for the diagnosis of celiac disease?
A. Anti-endomysial antibody
B. Anti-tissue transglutaminase antibody
C. Anti-gliadin antibody
D. Anti-reticulin antibody

Ans. (A) Anti-endomysial antibody
(Ref: Nelsons Pediatrics 17th Ed/P-1265)

148 - A couple has two children affected with tuberous sclerosis. On detailed clinical and laboratory evaluation (including molecular studies) both parents are normal. Which one of the following explains the two affected children in this family?
A. Non penetrance
B. Uniparental diasomy
C. Genomic imprinting
D. Germline mosaicism

Ans. (D) Germline Mosaicism
(Ref: Journal of Child Neurology/Vol. 19, No. 9, Sept. 2004)

149 - Cardiomyopathy may be seen in all of the following except:
A. Duchenne muscular dystrophy
B. Friedreich’s ataxia
C. Type II glycogen storage disease
D. Alkaptonuria

Ans. (D) Alkaptonuria

150 - Enzyme replacement therapy is available for which of the following disorders?
A. Gaucher disease
B. Niemann Pick disease
C. Mucolipidosis
D. Metachromatic leukodystrophy

Ans. (A) Gaucher’s disease.

151 - In a child with acute liver failure, the most important prognostic factor for death is:
A. Increasing transaminases
B. Increasing bilirubin
C. Increasing prothrombin time
D. Gram negative sepsis

Ans. (C) Prothrombin time.
(Ref: Diseases of the liver and the biliary system 11th Ed, Ch. 8-Acute Liver Failure, P-118)