Sao Paulo Medical Journal
versión impresa ISSN 1516-3180
versión On-line ISSN 1806-9460
CASTRO, Luiz Henrique Martins et al. Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study. Sao Paulo Med. J. [online]. 1994, vol.112, n.4, pp.649-653. ISSN 1516-3180. http://dx.doi.org/10.1590/S1516-31801994000400007.
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.
Palabras clave : Fabry's disease; thalamic infarction; stroke in young adults.