A 2-year-old boy presented with failure to thrive, regression of developmental milestone, and difficult to contact with surroundings. On examination, there are hepatosplenomegaly and moderate lymphadenopathy. Of the following, the MOST likely diagnosis is

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

A 2-year-old boy presented with failure to thrive, regression of developmental milestone, and difficult to contact with surroundings. On examination, there are hepatosplenomegaly and moderate lymphadenopathy. Of the following, the MOST likely diagnosis is

Correct Answer: D

Rationale: Niemann-Pick disease (type A/B) fits with hepatosplenomegaly, lymphadenopathy, and developmental regression, unlike Gaucher (A), Sandhoff (B), Tay-Sachs (C), or von Gierke (D).

Question 2 of 5

A 28-day-old boy presented with prolonged neonatal jaundice, lethargy, poor feeding, and failure to regain birth weight. On examination there are hepatomegaly and cataract. Of the following, the MOST likely injured organs in this disease are

Correct Answer: A

Rationale: Galactosemia injures eyes (cataracts), liver (jaundice, hepatomegaly), and brain (lethargy) from galactose-1-phosphate toxicity, not kidney (B, C, D) or pancreas (E) prominently.

Question 3 of 5

The earliest radiographic sign in Hurler syndrome is

Correct Answer: C

Rationale: Enlarged J-shaped sella is an early radiographic sign in Hurler syndrome from glycosaminoglycan (GAG) accumulation, preceding other skeletal changes (A, B, D, E).

Question 4 of 5

A 5-year-old boy presented with chronic diarrhea. On examination he had hepatosplenomegaly, coarse facial features, joint stiffness, clear cornea, and short stature. Of the following, the MOST likely diagnosis is

Correct Answer: B

Rationale: Hunter disease (MPS II) matches with hepatosplenomegaly, coarse facies, clear cornea, and short stature, unlike Hurler (A, cloudy cornea), Scheie (C, milder), Morquio (D, skeletal), or Sanfilippo (E, CNS).

Question 5 of 5

Acute intermittent porphyria (AIP) could be exacerbated by all the following EXCEPT

Correct Answer: D

Rationale: AIP is worsened by surgery (A), hormonal changes (B, C, D), and fasting (opposite of E). Increased carbohydrate intake prevents attacks, making E the exception.

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