Stroke in a young man: It gets under your skin-Answer

摘要

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficiency in the lysosomal hydrolase alpha-galactosidase A. This results in accumulation of the cell membrane component globotriaosylceramide, most prominently in vascular endothelium, smooth muscle cells and pericytes. A vasculopathy ensues that predisposes patients to thromboembolic events. Most strokes are secondary to small vessel disease, such as in this patient. Nevertheless, large vessel occlusive, dolichoectactic or embolic stroke may also occur [2]. Other manifestations include small fiber neuropathy (both peripheral and autonomic), renal disease and cardiac involvement. Dermatological findings such as angiokeratomas and telangiectasias are seen in up to 78% of patients.