All the following are clinical features of acute intermittent porphyria EXCEPT

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Endocrine System Pediatrics Questions

Question 1 of 4

All the following are clinical features of acute intermittent porphyria EXCEPT

Correct Answer: D

Rationale: AIP features neuropathy (A), tachycardia (B), abdominal pain (C), and bladder issues (D). Photosensitivity (E) is absent, typical of cutaneous porphyrias.

Question 2 of 4

In X-linked adrenoleukodystrophy (ALD), MRI shows characteristic cerebral white matter lesions mainly in

Correct Answer: D

Rationale: ALD’s white matter lesions are characteristically parietooccipital on MRI, reflecting disease progression, distinct from other regions (A, B, C, E).

Question 3 of 4

The MOST common presentation of primary carnitine deficiency is

Correct Answer: B

Rationale: Primary carnitine deficiency most commonly presents with cardiomyopathy from impaired fatty acid transport, more frequent than liver (A), skeletal (C), fibroelastosis (D), or hypoglycemia (E).

Question 4 of 4

The MOST common initial manifestation of X-linked adrenoleukodystrophy (ALD) is

Correct Answer: B

Rationale: Hyperactivity is the most common initial sign of X-linked ALD, often preceding neurological decline, unlike seizures (A), vision (C), pressure (D), or hearing (E).

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