Matching: 3-Methylglutaconic aciduria type II

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

Matching: 3-Methylglutaconic aciduria type II

Correct Answer: D

Rationale: Type II (Barth syndrome) is X-linked with cardiomyopathy.

Question 2 of 5

Matching: Peroxisomal disorder

Correct Answer: A

Rationale: All listed conditions (e.g., Zellweger) are peroxisomal disorders.

Question 3 of 5

A 7-year-old male previously 'A' student demonstrates progressive hyperactivity is diagnosed with attention deficit hyperactivity disorder. Despite therapy, his school performance deteriorates. He has difficulty understanding people when spoken to on the telephone. Seizures developed 6 months later. Physical examination reveals slight diffuse hyperpigmentation, spasticity, and reduced deep tendon reflexes. The most likely diagnosis is

Correct Answer: D

Rationale: X-linked adrenoleukodystrophy (ALD) causes progressive neurologic decline, seizures, and adrenal insufficiency (pigmentation).

Question 4 of 5

Matching: Lipidosis - Sandhoff

Correct Answer: C

Rationale: Sandhoff disease has both cherry red spot and hepatosplenomegaly.

Question 5 of 5

Treatment of the patient in the previous two questions is best achieved with

Correct Answer: B

Rationale: Enzyme replacement with β-glucosidase (e.g., imiglucerase) treats Gaucher disease.

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