A 6-month-old infant presents with failure to thrive and hepatosplenomegaly. Labs show elevated triglycerides and uric acid. Most likely diagnosis is:

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Question 1 of 5

A 6-month-old infant presents with failure to thrive and hepatosplenomegaly. Labs show elevated triglycerides and uric acid. Most likely diagnosis is:

Correct Answer: B

Rationale: Niemann-Pick disease features failure to thrive, hepatosplenomegaly, and lipid abnormalities, per NORD. A, C-E have distinct profiles.

Question 2 of 5

A 4-year-old girl presents with pallor and lethargy. Labs show hemoglobin of 8 g/dL and Howell-Jolly bodies. Most likely diagnosis is:

Correct Answer: B

Rationale: Sickle cell disease shows Howell-Jolly bodies from splenic dysfunction, per ASH. A, C-E differ.

Question 3 of 5

Most common cause of death in patients with untreated congenital adrenal hyperplasia is:

Correct Answer: B

Rationale: Adrenal crisis leads to death in untreated CAH from salt loss and shock, per AAP (doc p148, Q559).

Question 4 of 5

A 6-year-old boy appears with pubic hair and enlarged testes. Labs reveal elevated testosterone and normal LH/FSH. Most likely diagnosis is:

Correct Answer: B

Rationale: Testicular tumor causes precocious puberty with high testosterone and normal gonadotropins, per AAP (doc p149, Q575).

Question 5 of 5

A 10-year-old boy appears with weight gain, moon facies, and striae. History reveals chronic steroid use for asthma. Most likely diagnosis is:

Correct Answer: C

Rationale: Cushing syndrome fits weight gain, moon facies, and steroid use, per AAP (doc p150, Q591).

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