ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise, and large head. Ophthalmic exam revealed cherry-red spot. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Tay-Sachs disease causes cherry-red spots, seizures, macrocephaly, and startle response from GM2 ganglioside accumulation, matching this case, unlike others (A, B, C, E).
Question 2 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 3 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 4 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 5 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.