ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
A 4-year-old blue-eyed white female manifests a malar flush, mild mental retardation, subluxation of the ocular lens, iridodonesis, and Marfanoid-like features (tall, thin, arachnodactyly). The most likely diagnosis is
Correct Answer: D
Rationale: Homocystinuria mimics Marfan syndrome with lens dislocation and retardation due to homocysteine accumulation.
Question 2 of 5
In addition to routine supportive care, what additional therapy would be most appropriate for the child in the previous question?
Correct Answer: A
Rationale: Vitamin B12 treats methylmalonic acidemia in B12-responsive forms, reducing toxic metabolites.
Question 3 of 5
Lysinuric protein intolerance is characterized by all of the following EXCEPT
Correct Answer: A
Rationale: Mental retardation is not universal in lysinuric protein intolerance; other features are typical.
Question 4 of 5
Matching: X-linked
Correct Answer: C
Rationale: X-linked adrenoleukodystrophy is a peroxisomal disorder.
Question 5 of 5
Patients with heterozygous familial hypercholesterolemia have xanthomas. The best site to look for xanthomas is
Correct Answer: D
Rationale: Achilles tendon xanthomas are classic in heterozygous FH.