92 - paediatrics 2 bits

Q)A 11 year old boy with IQ of 50,has a long face with large
prominent ears and macro-orchidism.The most probable diagnosis is :

a)Klinefelter’s syndrome
b)Fragile x syndrome------------
c)Turner’s syndrome
d)Beckwith syndrome

reference:Nelsons 16th edition (CD)

The main clinical manifestations of fragile X syndrome in affected males are

# mental retardation

# macro-orchidism

# large size

# characteristic facial features, including

o long face,
o prominent jaw, and
o large prominent ears;


# sterotyped behavior and speech

Explanation:

a)Klinefelter’s syndrome :
Individuals with Klinefelter syndrome are usually relatively tall.
They may have gynecomastia and secondary sex development may be delayed.

They usually have azoospermia and small testes.

b)Fragile x syndrome :explained above!

c)Turner’s syndrome :typically seen in females!

d)Beckwith syndrome :

a syndrome of intractable neonatal hypoglycemia occurring in infants
with macroglossia,
large size,
visceromegaly,
mild microcephaly,
omphalocele,
facial nevus flammeus,
a characteristic earlobe crease,
increased risk of tumors.

Hyperinsulinemia is characteristic.
The prognosis is poor.

Correct choice: (b) Fragile X syndrome

Remember: Fragile X syndrome is the most common form of inherited mental retardation in males.

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Question 1 : A 2 months old male baby is brought to OPD with complaints of vomiting after feed, recurrent attacks of pneumonia and failure to thrive. The most likely diagnosis is
Options: Your Response: Correct Answer:
a) Malrotation of gut
b) Esophagitis
c) Gastro esophageal reflux * * Right
d) Hypertrophic pyloric stenosis

Question 2 : The least likely diagnosis in a 2 days old infant with bile stained vomitis would be
Options: Your Response: Correct Answer:
a) Annular pancreas
b) Duodenal atresia
c) Hypertrophic pyloric stenosis * * Right
d) Volvulus

Question 3 : Recognised sequelae to oxyuriasis ( pin worm ) infestation include all except
Options: Your Response: Correct Answer:
a) Total absence of symptoms
b) Pruritus ani
c) Recurrent abdominal pain * * Right
d) No anemia

Question 4 : Lactose intolerance is a recognised finding in all except
Options: Your Response: Correct Answer:
a) Majority of Indian and Orientals * * Right
b) Celiac disease
c) Severe malnutrition
d) Post infective diarrhea

Question 5 : Rectosigmoid index is useful in the diagnosis of
Options: Your Response: Correct Answer:
a) Diverticulosis
b) Crohn's disease
c) Aganglioniosis * * Right
d) Meconium ileus

Question 6 : All of the following cause cirrhosis with Portal Hypertension except
Options: Your Response: Correct Answer:
a) Cystic fibrosis
b) Wilson's disease
c) alpha 1 anti trypsin deficiency
d) Congenital hepatic fibrosis * * Right

Question 7 : Commonest complication of Amoebic liver abscess in children is
Options: Your Response: Correct Answer:
a) Rupture into Right lung
b) Recurrence
c) Rupture into peritoneal cavity
d) Secondary infection * * Right

Question 8 : All of the following are feature of necrotising enterocolitis except
Options: Your Response: Correct Answer:
a) Increased bowel sounds * * Right
b) Bilious vomiting
c) Blood in stool
d) Abdominal distention

Question 9 : Chest X-ray in a newborn with respiratory distress showing multiple air containing lesions in left hemithorax and mediastinal shift suggests
Options: Your Response: Correct Answer:
a) Diaphragmatic hernia * * Right
b) Neonatal emphysema
c) Pneumatoceles
d) Congenital lung cyst

Question 10 : A 8 year old boy takes part in the ice cream eating competition . Comes to the casualty with pain in the abdomen, distention & bloating. He gives a past history similar episode on eating ice cream / milk products. The enzyme deficient is
Options: Your Response: Correct Answer:
a) Sucrase - isomaltase
b) Lactase * * Right
c) Salivary amylase
d) Enterokinase

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