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Volume 350:416-417 January 22, 2004 Number 4
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Case 20-2003: Gaucher's Disease

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by Larsen, E. C.
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To the Editor: In discussing the case of a girl with hepatosplenomegaly and pain in the thigh (June 26 issue),1 Larsen arrived at the diagnosis of Gaucher's disease, and he correctly points out that Gaucher's disease can be diagnosed by assaying leukocyte {beta}-glucosidase levels. But it is inappropriate to suggest that histologic demonstration of Gaucher's cells is either an alternative or a more expeditious approach. It is perhaps more expeditious for the physician, but it is hardly so for the patient.2

The patient in the current case had a good response to enzyme-replacement therapy at the more-than-ample dose of 60 . . . [Full Text of this Article]



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