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

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Pediatric Endocrine System Questions

Question 1 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 2 of 5

Matching: Primarily African-American

Correct Answer: D

Rationale: No specific peroxisomal disorder is noted as primarily African-American; placeholder.

Question 3 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 4 of 5

Matching: Lipidosis - Mucolipidosis I

Correct Answer: D

Rationale: Mucolipidosis I (sialidosis) typically lacks these features.

Question 5 of 5

Matching: Glycogen storage diseases - Pompe

Correct Answer: C

Rationale: Pompe (type II) features cardiomegaly and hypotonia.

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