One of the following is a characteristic feature for both Infantile Sandhoff disease and Tay-Sachs disease

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Pediatric Endocrine System Questions

Question 1 of 5

One of the following is a characteristic feature for both Infantile Sandhoff disease and Tay-Sachs disease

Correct Answer: D

Rationale: Both Sandhoff and Tay-Sachs feature cherry-red spots from ganglioside buildup, unlike organomegaly (A, B), cardiac issues (C), or bony changes (E), which are less consistent.

Question 2 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 3 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 4 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.

Question 5 of 5

Which of the following mucopolysaccharidoses is susceptible to life-threatening atlantoaxial instability and dislocation?

Correct Answer: D

Rationale: Morquio disease (MPS IV) has severe skeletal dysplasia, including atlantoaxial instability, risking spinal cord compression, unlike others (A, B, C, E).

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