In children with Down syndrome (DS), the type of leukemia varies by age. In those younger than 2 years, it is generally

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Pediatric Endocrine System Questions

Question 1 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 2 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 3 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.

Question 4 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 5 of 5

Dietary restriction of phenylalanine during pregnancy to serum levels of 10 mg/dL prevents all of the following EXCEPT

Correct Answer: B

Rationale: Phenylalanine restriction prevents fetal damage (microcephaly, heart defects, retardation) but not maternal preeclampsia, a pregnancy-specific condition.

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