ATI RN
Endocrine System in Pediatrics Questions
Question 1 of 5
Peroxisomal disorders in the neonatal period are most commonly manifested by
Correct Answer: A
Rationale: Peroxisomal disorders (e.g., Zellweger) typically present with hypotonia and seizures in neonates due to brain and nerve dysfunction.
Question 2 of 5
A 2-month-old male of French Canadian heritage presents with fever, irritability, vomiting, and jaundice. Physical examination reveals an obtunded infant with hepatomegaly and jaundice. Laboratory studies reveal a blood glucose level of 10 mg/dL and elevated liver transaminases. The most likely diagnosis is
Correct Answer: A
Rationale: Tyrosinemia type I, prevalent in French Canadians, causes hypoglycemia, hepatomegaly, and liver dysfunction.
Question 3 of 5
Matching: Sensorineural deafness
Correct Answer: C
Rationale: Waardenburg syndrome features sensorineural deafness and pigmentation defects.
Question 4 of 5
Treatment is initiated with high-dose vitamin B6 but no response is observed. The most likely explanation is
Correct Answer: A
Rationale: Non-responsive homocystinuria (CBS deficiency) often indicates folate deficiency, as folate is needed for methionine remethylation.
Question 5 of 5
Matching: Juvenile multiple carboxylase deficiency
Correct Answer: B
Rationale: Juvenile MCD (biotinidase deficiency) features seborrheic dermatitis and neurologic symptoms.