ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
The parents of a 2-year-old boy with Tay-Sachs disease ask you about the availability of prenatal testing in their pregnancy. When counseling this couple about prenatal diagnosis, it would be most appropriate to include which one of the following statements:
Correct Answer: A
Rationale: Prenatal testing for Tay-Sachs via CVS at 10 weeks is standard and reliable, given its autosomal recessive inheritance (25% risk per pregnancy).
Question 2 of 5
Matching: Platelet dysfunction
Correct Answer: B
Rationale: Hermansky-Pudlak syndrome includes platelet dysfunction and bleeding tendencies.
Question 3 of 5
Additional complications that may occur in the patient in the previous question include all of the following EXCEPT
Correct Answer: D
Rationale: Cardiomyopathy is not typical in homocystinuria; others (thrombosis, osteoporosis) are common.
Question 4 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 5 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.