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Images in Clinical Medicine
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Volume 349:e20 November 20, 2003 Number 21
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Fabry's Disease

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A 30-year-old man had severe neuropathic pain that affected his hands and feet. Examination of his skin showed angiokeratomas that were particularly prominent in the groin and on the back (Panel A) but that were also present on the lips and palms. Examination of the optic fundi showed tortuous retinal arterioles (Panel B). He had heat intolerance and decreased sweating. The diagnosis of Fabry's disease was confirmed by the detection of reduced {alpha}-galactosidase A activity in peripheral leukocytes. He received carbamazepine for the neuropathic pain. Testing of renal function when the patient was 38 years of age showed a serum . . . [Full Text of this Article]

 



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