ATI RN
Endocrine System in Pediatrics Questions
Question 1 of 5
Which of the following is true regarding Patau syndrome (trisomy 13)?
Correct Answer: A
Rationale: In Patau syndrome, midline facial defects such as cyclopia, cebocephaly, and cleft lip and palate are common, as are CNS anomalies like alobar holoprosencephaly, leading to severe disability and short life expectancy, making A incorrect as the true statement is its opposite.
Question 2 of 5
Matching: Match the disease with its enzyme - Sphingomyelinase
Correct Answer: D
Rationale: Niemann-Pick disease type A is due to sphingomyelinase deficiency, leading to sphingomyelin accumulation.
Question 3 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 4 of 5
A 7-month-old boy has been healthy and developing normally since birth. His mother now reports that he has decreased eye contact with her, even during feedings. The infant also startles very easily when there is a loud noise in the house. Of the following, the most appropriate diagnostic test to confirm the etiology of these findings is the measurement of
Correct Answer: A
Rationale: Tay-Sachs disease presents at 6-12 months with regression and exaggerated startle; β-hexosaminidase A deficiency confirms it.
Question 5 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.