ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
A 3-week-old neonate presented with poor feeding, vomiting, and tachypnea with profound depression of the central nervous system, associated with alternating hypotonia and hypertonia, opisthotonos, and seizures. Laboratory manifestations reveal hypoglycemia and metabolic acidosis with high anion gap. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Maple syrup urine disease (MSUD) presents neonatally with feeding issues, CNS depression, tone changes, seizures, hypoglycemia, and high-anion-gap acidosis from branched-chain amino acid accumulation, matching this case.
Question 2 of 5
In children with Down syndrome (DS), the type of leukemia varies by age. In those younger than 2 years, it is generally
Correct Answer: D
Rationale: In children with DS younger than 2 years, the type is generally acute megakaryoblastic leukemia; in individuals older than 3 years, acute lymphoblastic leukemia predominates.
Question 3 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Glutaric acidemia (type II)
Correct Answer: C
Rationale: Glutaric acidemia type II produces a sweaty feet-like odor due to accumulation of organic acids from fatty acid oxidation defects.
Question 4 of 5
Matching: Match the disease with its enzyme - Iduronidase
Correct Answer: A
Rationale: Hurler syndrome (MPS I) results from iduronidase deficiency, causing mucopolysaccharide buildup.
Question 5 of 5
Which of the following porphyrias is NOT associated with cutaneous manifestations?
Correct Answer: C
Rationale: Acute intermittent porphyria presents with neurologic symptoms (abdominal pain, neuropathy) without skin involvement, unlike the others.