ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
The definitive diagnosis of type I glycogen storage disease GSD is by
Correct Answer: B
Rationale: Liver biopsy showing glycogen accumulation and enzyme deficiency (glucose-6-phosphatase) definitively diagnoses GSD I, more specific than EMG (A), muscle biopsy (C), gene analysis (D), or fibroblasts (E).
Question 2 of 5
A 9-year-old boy presented with tiredness on exertion; cardiac auscultation reveals a murmur in aortic area; echo study showed aortic valve disease. On examination he had mild coarse facial features, corneal clouding, joint stiffness, and mild dysostosis multiplex but normal intelligence and stature. Of the following, the MOST likely diagnosis is
Correct Answer: B
Rationale: Scheie disease (mild MPS I) fits with normal intelligence, stature, corneal clouding, and cardiac issues, unlike severe Hurler (A), X-linked Hunter (C), skeletal Morquio (D), or CNS Sanfilippo (E).
Question 3 of 5
All the following are skeletal manifestations of Morquio disease EXCEPT
Correct Answer: D
Rationale: Morquio disease (MPS IV) causes kyphosis (A), genua valga (B), waddling gait (C), and short trunk/neck (D). Bullet-shaped phalanges (E) are typical of Hurler, not Morquio.
Question 4 of 5
All the following are clinical features of acute intermittent porphyria EXCEPT
Correct Answer: D
Rationale: AIP features neuropathy (A), tachycardia (B), abdominal pain (C), and bladder issues (D). Photosensitivity (E) is absent, typical of cutaneous porphyrias.
Question 5 of 5
The least well-defined long-term sequelae of severe prolonged hypoglycemia is
Correct Answer: B
Rationale: Personality affection (B) is less well-defined as a hypoglycemia sequela compared to cerebral palsy (A), cognitive impairment (C), seizures (D), or autonomic issues (E), which are better documented.