Cormican Michael T, Paschalis Thanasis, Viers Angela, Alleyne Cargill H
Neurosurgery Department, Medical College of Georgia at Georgia Health Sciences University, Augusta, Georgia, USA.
BMJ Case Rep. 2012 Jul 3;2012:bcr0220125727. doi: 10.1136/bcr.02.2012.5727.
Fabry's disease is a rare, X linked recessive disease affecting 1 in 40 000 persons. The symptoms result from a lack of or a non-functioning enzyme α galactosidase, which leads to globotriaosylceramide accumulation in the walls of blood vessels. Mortality is generally from cardiac or renal complications and death from subarachnoid haemorrhage is distinctly rare. The authors report a man with Fabry's disease who died after subarachnoid haemorrhage from a progressively enlarging fusiform basilar aneurysm.
法布里病是一种罕见的X连锁隐性疾病，发病率为四万分之一。其症状是由于缺乏或存在无功能的α半乳糖苷酶，导致血管壁中球三糖神经酰胺蓄积。死亡率通常源于心脏或肾脏并发症，死于蛛网膜下腔出血的情况极为罕见。作者报告了一名患有法布里病的男性，他因一个逐渐增大的梭形基底动脉瘤导致蛛网膜下腔出血后死亡。
