The following are ocular manifestations of albinism EXCEPT

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Pediatric Endocrine System Questions

Question 1 of 5

The following are ocular manifestations of albinism EXCEPT

Correct Answer: D

Rationale: Albinism causes red reflex (A), strabismus (B), refractive errors (C), and poor binocular vision (E) due to hypopigmentation and foveal hypoplasia, not hyperplasia (D), which is the opposite.

Question 2 of 5

Niemann-pick disease type A is characterized by all the following EXCEPT

Correct Answer: C

Rationale: Niemann-Pick type A includes failure to thrive (A), hepatosplenomegaly (B), retardation (D), and neurodegeneration (E). Lung disease (C) is more characteristic of type B.

Question 3 of 5

In von Gierke disease; treatment is designed to maintain normal blood glucose levels which is achieved by all the following EXCEPT

Correct Answer: C

Rationale: Von Gierke treatment avoids fructose (A) and galactose (B), uses NG glucose (D) and cornstarch (E) to maintain glucose. Table sugar (sucrose, C) worsens the condition.

Question 4 of 5

A 9-month-old boy with exclusive breast feeding presented with jaundice, vomiting, lethargy, hepatomegaly, and hypoglycemic fits when sweetened cereal added. Laboratory findings showed prolonged clotting time, hypoalbuminemia, elevation of bilirubin and transaminase levels, and proximal tubular dysfunction. Of the following, the MOST likely diagnosis is

Correct Answer: D

Rationale: Hereditary fructose intolerance (HFI) presents with jaundice, hepatomegaly, hypoglycemia, and renal dysfunction after fructose introduction (sweetened cereal), unlike others (A-D).

Question 5 of 5

Hunter disease is characterized by all the following features EXCEPT

Correct Answer: B

Rationale: Hunter disease (MPS II) features short stature (A), dysostosis (C), intellectual disability (D), and coarse facies (E), but lacks corneal clouding (B), unlike MPS I.

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