Grewal R P, Barton N W
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
Clin Neurol Neurosurg. 1992;94(2):177-9. doi: 10.1016/0303-8467(92)90079-i.
An atypical patient with Fabry's disease is presented. This patient developed a left internal capsule lacunar stroke at the age of 25. The etiology of the stroke was unclear. At the age of 29 he was discovered to have corneal lesions suggestive of Fabry's disease but had no other clinical features typical of Fabry's disease. The diagnosis of Fabry's disease was confirmed biochemically. Fabry's disease should be included in the differential diagnosis of stroke of unclear etiology in young male patients.
本文介绍了一位患有法布里病的非典型患者。该患者在25岁时发生了左侧内囊腔隙性卒中。卒中病因不明。29岁时，他被发现有提示法布里病的角膜病变，但没有法布里病的其他典型临床特征。通过生化检查确诊为法布里病。法布里病应纳入年轻男性病因不明性卒中的鉴别诊断。
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