ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
Matching: Platelet dysfunction
Correct Answer: B
Rationale: Hermansky-Pudlak syndrome includes platelet dysfunction and bleeding tendencies.
Question 2 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 3 of 5
A 1-day-old presents with failure to suck, hypotonia, lethargy, and refractile myoclonic seizures. The infant is normocephalic and laboratory studies reveal normal serum pH and glucose, calcium, ammonia, and electrolyte levels. The birth history is unremarkable, and the Apgar score was 9 and 9. Hyperglycinemia is present in a mild to moderate range. The next most appropriate test is
Correct Answer: C
Rationale: Nonketotic hyperglycinemia (NKH) is confirmed by elevated CSF glycine relative to plasma.
Question 4 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 5 of 5
Matching: Primarily African-American
Correct Answer: D
Rationale: No specific peroxisomal disorder is noted as primarily African-American; placeholder.