Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study

Sao Paulo Medical Journal

Luiz Henrique Martins Castro²  Mario Luiz Ribeiro Monteiro¹  Egberto Reis Barbosa¹  Milberto Scaff²  Horacio Martins Canelas² 

[1],University of São Paulo Medical School Departments of Neurology and Ophtalmology São Paulo SP ,Brazil

关键词: Fabry's disease;    thalamic infarction;    stroke in young adults;   

DOI  :  10.1590/S1516-31801994000400007

来源: SciELO

【 摘 要 】

An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.

【 授权许可】

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