A 14-month-old male of Northern European ancestry experienced an upper respiratory tract infection and anorexia. On the second day of the illness, he began to vomit, and by that evening he was unresponsive. On the way to the hospital, he had a generalized seizure lasting 10 minutes. At the hospital, he had a blood glucose of 10 mg/dL; his urinalysis showed no ketones. Liver function tests, anion gap, and serum ammonia were all normal. The most likely diagnosis is

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Endocrine System in Pediatrics Questions

Question 1 of 5

A 14-month-old male of Northern European ancestry experienced an upper respiratory tract infection and anorexia. On the second day of the illness, he began to vomit, and by that evening he was unresponsive. On the way to the hospital, he had a generalized seizure lasting 10 minutes. At the hospital, he had a blood glucose of 10 mg/dL; his urinalysis showed no ketones. Liver function tests, anion gap, and serum ammonia were all normal. The most likely diagnosis is

Correct Answer: A

Rationale: MCAD deficiency causes hypoketotic hypoglycemia during fasting/stress, common in Northern Europeans.

Question 2 of 5

The best approach to therapy for patients with homozygous familial hypercholesterolemia is

Correct Answer: B

Rationale: LDL apheresis is the most effective therapy for homozygous FH to lower cholesterol.

Question 3 of 5

A 16-year-old presents with easy bruisability and chronic fatigue. He has a 3-year history of bone pain and poor growth. Physical examination reveals hepatosplenomegaly. Laboratory studies reveal normal liver enzymes but a hematocrit of 25% and a platelet count of 25,000. X-rays of the skeleton reveal long bone lytic lesions and osteosclerosis. The most likely diagnosis is

Correct Answer: D

Rationale: Gaucher disease matches with hepatosplenomegaly, bone lesions, and hematologic abnormalities.

Question 4 of 5

Matching: Glycogen storage diseases - McArdle

Correct Answer: A

Rationale: McArdle (type V) causes muscle cramps and exercise intolerance.

Question 5 of 5

The following are main features of diabetic ketoacidosis (DKA) EXCEPT

Correct Answer: D

Rationale: DKA includes hyperglycemia (A), ketonemia (B), ketonuria (C), and low HCO₃ (E), but venous pH is typically <7.30, not necessarily <7.20 (D), which is more severe.

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