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A 5-Year-Old Girl Presents with Hepatosplenomegaly, Abnormal Bleeding, Defects in Long

Question 2

Multiple Choice

A 5-year-old girl presents with hepatosplenomegaly, abnormal bleeding, defects in long bone development, and neurological dysfunction.A liver biopsy reveals an accumulation of glucocerebroside.These symptoms indicate the child is suffering from:


A) Fabry disease.
B) Niemann-Pick disease.
C) Krabbe disease.
D) Gaucher disease.
E) Hurler syndrome.

Correct Answer:

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