ATI RN
Pediatric Endocrine Exam Questions Questions
Question 1 of 5
All the following are recognized feature of Niemann-pick disease type B EXCEPT
Correct Answer: C
Rationale: Niemann-Pick type B features normal IQ (A), lung disease (B), minimal neurology (D), and occasional cherry-red spots (E). Prolonged jaundice (C) is more typical of type A or other conditions.
Question 2 of 5
Irreversible complication of untreated galactosemia is
Correct Answer: D
Rationale: Untreated galactosemia causes irreversible intellectual disability from brain damage, more permanent than cataracts (B), sepsis (A), or organ injuries (C, D), which may be treatable.
Question 3 of 5
Enzyme replacement is the main therapy of Hurler disease, it improve all the following EXCEPT
Correct Answer: D
Rationale: ERT in Hurler syndrome (MPS I) improves growth (A), mobility (B), organomegaly (C), and apnea (E), but cognitive impairment (D) persists due to CNS GAG accumulation.
Question 4 of 5
In mucopolysaccharidosis, disproportionate severe CNS involvement with mild physical features is unique to
Correct Answer: D
Rationale: Sanfilippo disease (MPS III) uniquely features severe CNS involvement (dementia) with milder somatic findings, unlike others (A-D).
Question 5 of 5
All the following drugs are unsafe in acute intermittent porphyria EXCEPT
Correct Answer: A
Rationale: Nifedipine is safe in AIP, unlike diclofenac (B), cimetidine (C), valproic acid (D), and carbamazepine (E), which induce heme synthesis and exacerbate attacks.