A 22-year-old woman delivers an apparently healthy female infant after an uncomplicated pregnancy. By 4 years of age, the girl has progressive, severe neurologic deterioration. Physical examination shows marked hepatosplenomegaly. A bone marrow biopsy specimen shows numerous foamy vacuolated macrophages. Analysis of which of the following factors is most likely to aid in the diagnosis of this condition?
A 22-year-old woman delivers an apparently healthy female infant after an uncomplicated pregnancy. By 4 years of age, the girl has progressive, severe neurologic deterioration. Physical examination shows marked hepatosplenomegaly. A bone marrow biopsy specimen shows numerous foamy vacuolated macrophages. Analysis of which of the following factors is most likely to aid in the diagnosis of this condition?
💡 Explanation
A 22-year-old woman delivers an apparently healthy female infant after an uncomplicated pregnancy. By 4 years of age, the girl has progressive, severe neurologic deterioration. Physical examination shows marked hepatosplenomegaly. A bone marrow biopsy specimen shows numerous foamy vacuolated macrophages. Analysis of which of the following factors is most likely to aid in the diagnosis of this condition?
✓ Correct Answer: C. Level of sphingomyelinase in splenic macrophages
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