ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
All the following lipidoses are inherited as an autosomal recessive traits EXCEPT
Correct Answer: A
Rationale: Fabry disease is X-linked, unlike the autosomal recessive Krabbe (B), Gaucher (C), Tay-Sachs (D), and Niemann-Pick (E).
Question 2 of 5
A 20-day-old girl presented with prolonged neonatal jaundice, lethargy, and poor feeding treated as sepsis by empirical antibiotics and nothing by mouth. The patient got partial response, when oral feeding resumed, the condition deteriorate again. In this condition, the blood culture MOST likely reveals growth of
Correct Answer: A
Rationale: Galactosemia increases E. coli sepsis risk from galactose-induced immune suppression, exacerbated by feeding resumption, more common than other pathogens (B-E) in this context.
Question 3 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 4 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 5 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.