ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
Matching: Infantile multiple carboxylase deficiency
Correct Answer: A
Rationale: Infantile MCD (holocarboxylase synthetase deficiency) causes alopecia and dermatitis due to biotin deficiency.
Question 2 of 5
A 10-month-old Ashkenazi Jewish female manifests hypotonia and macrocephaly. By 18 months of age, she has hyperreflexia and optic atrophy. Additional problems include failure to thrive and swallowing difficulties. MRI demonstrates diffuse white matter degeneration of the cerebral cortex. The most likely diagnosis is
Correct Answer: D
Rationale: Canavan disease, common in Ashkenazi Jews, causes macrocephaly, white matter degeneration, and neurologic decline.
Question 3 of 5
Matching: Primarily African-American
Correct Answer: D
Rationale: No specific peroxisomal disorder is noted as primarily African-American; placeholder.
Question 4 of 5
All of the following are present in children with homozygous familial hypercholesterolemia EXCEPT
Correct Answer: A
Rationale: Homozygous FH causes severe hypercholesterolemia, not hypertriglyceridemia.
Question 5 of 5
Matching: Lipidosis - Mucolipidosis I
Correct Answer: D
Rationale: Mucolipidosis I (sialidosis) typically lacks these features.