ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
Niemann-pick disease type A is characterized by all the following EXCEPT
Correct Answer: C
Rationale: Niemann-Pick type A includes failure to thrive (A), hepatosplenomegaly (B), retardation (D), and neurodegeneration (E). Lung disease (C) is more characteristic of type B.
Question 2 of 5
A 9-month-old boy with exclusive breast feeding presented with jaundice, vomiting, lethargy, hepatomegaly, and hypoglycemic fits when sweetened cereal added. Laboratory findings showed prolonged clotting time, hypoalbuminemia, elevation of bilirubin and transaminase levels, and proximal tubular dysfunction. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Hereditary fructose intolerance (HFI) presents with jaundice, hepatomegaly, hypoglycemia, and renal dysfunction after fructose introduction (sweetened cereal), unlike others (A-D).
Question 3 of 5
Hunter disease is characterized by all the following features EXCEPT
Correct Answer: B
Rationale: Hunter disease (MPS II) features short stature (A), dysostosis (C), intellectual disability (D), and coarse facies (E), but lacks corneal clouding (B), unlike MPS I.
Question 4 of 5
Which of the following mucopolysaccharidoses is susceptible to life-threatening atlantoaxial instability and dislocation?
Correct Answer: D
Rationale: Morquio disease (MPS IV) has severe skeletal dysplasia, including atlantoaxial instability, risking spinal cord compression, unlike others (A, B, C, E).
Question 5 of 5
The least common presentation of acute intermittent porphyria is
Correct Answer: A
Rationale: Sensory loss (A) is less common in AIP than mental symptoms (B), weakness (C), abdominal pain (D), or extremity pain (E), which dominate acute attacks.