Matching: Disorder of peroxisomal import

Questions 63

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Pediatric Endocrine Exam Questions Questions

Question 1 of 5

Matching: Disorder of peroxisomal import

Correct Answer: B

Rationale: Zellweger syndrome involves peroxisomal import defects.

Question 2 of 5

Matching: Lipidosis - Niemann-Pick

Correct Answer: B

Rationale: Niemann-Pick primarily causes hepatosplenomegaly.

Question 3 of 5

Metachromatic leukodystrophy, an autosomal recessive white matter disease, is characterized by all of the following EXCEPT

Correct Answer: C

Rationale: Cherry red spot is not a feature of metachromatic leukodystrophy; it’s seen in Tay-Sachs.

Question 4 of 5

Disorder of carbohydrate-deficient glycoprotein structure are characterized by all of the following EXCEPT

Correct Answer: D

Rationale: Stroke-like episodes are not typical of CDG syndromes; others are common features.

Question 5 of 5

The following features suggest constitutional delay as a cause of short stature EXCEPT

Correct Answer: C

Rationale: Constitutional delay involves normal early growth with delay later; poorest growth at 18-30 months (C) suggests a different etiology, like malnutrition or disease.

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