ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
A constant threat of homocystinuria is
Correct Answer: D
Rationale: Homocystinuria’s constant threat is arterial thromboses due to homocysteine’s vascular toxicity, a life-threatening complication outweighing skeletal (B, C), ocular (A), or cognitive (D) issues.
Question 2 of 5
Lipidoses affect many solid organs, cherry-red spots is seen in
Correct Answer: D
Rationale: GM2 gangliosidosis (Tay-Sachs) classically features cherry-red spots in the macula from lipid accumulation in retinal ganglion cells, a hallmark finding.
Question 3 of 5
The condition with the LEAST association with chromosome 22q deletion is
Correct Answer: D
Rationale: All except E (Williams syndrome, linked to 7q deletion) represent a continuum of findings due to chromosome 22q deletion, including cleft palate, cardiac defects, and T-cell dysfunction.
Question 4 of 5
Matching: Match the disease with its enzyme - α-Galactosidase
Correct Answer: D
Rationale: Fabry disease is caused by α-galactosidase deficiency, leading to globotriaosylceramide accumulation.
Question 5 of 5
A 13-month-old infant is found comatose in bed after sleeping later than usual. On physical examination, the infant is afebrile and of normal size, and the liver is palpated 4 cm below the costal margin. The plasma glucose level is 15 mg/dL, the bicarbonate level is 20 mEq/L, BUN is 35 mg/dL, ammonia is 295 μmol/L, AST is 320 U/L, ALT is 425 U/L, and bilirubin is normal. Urinalysis is negative for glucose, ketones, protein, and reducing substances. Which of the following is the most likely diagnosis?
Correct Answer: B
Rationale: Type I glycogen storage disease (von Gierke) causes severe hypoglycemia, hepatomegaly, and elevated ammonia/liver enzymes due to glucose-6-phosphatase deficiency.