A 2 year old retarded child is evaluated by a metabolic specialist. The child’s history is significant for failure to thrive and progressive neurologic deterioration, including deafness and blindness. Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of?
A 2 year old retarded child is evaluated by a metabolic specialist. The child’s history is significant for failure to thrive and progressive neurologic deterioration, including deafness and blindness. Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of?
💡 Explanation
A 2 year old retarded child is evaluated by a metabolic specialist. The child's history is significant for failure to thrive and progressive neurologic deterioration, including deafness and blindness. Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of?
✓ Correct Answer: B. Niemann-Pick disease
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