Cerebrovascuar involvement and stroke in Fabry’s disease: Single center experience in Korea

Abstract

Fabry’s disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency due to GLA gene mutation. Cerebrovascular complication occurs in about a third of the patients. FD is one of the important cause of young stroke. We studied cerebrovascular involvement in FD and report two cases of acute stroke associated with FD in single center of Korea. From May 2008 to May 2019, we identified 26 FD patients with genetically confirmed diagnosis in our tertiary university hospital. Among them, nine were studied by MRI or MRA due to various reasons. Only two showed symptomatic and radiological cerebrovascular involvement (7.7%). Otherwise 7 were normal neurologically and radiologically. One case was 33 year-old man, who showed as transient ischemic attack of transient dysarthria and right limb weakness. Diffusion-weighted image (DWI) showed no abnormalities. Multifocal stenosis in cerebral arteries were seen in MRA. The other was 53 year-old woman, who showed diplopia and left ocular tilt reaction. DWI showed focal diffusion restriction in right paramedian thalamus. The incidence of stroke and cerebrovascular involvement of FD in single center in Korea was similar in studies of western countries. The stroke mechanism of our cases were various as transient ischemic attack due to large artery disease and typical small vessel disease. However, the common radiological findings in FD such as chronic white matter hyperintensities or pulvinar sign were lack in our cases. Nationwide large cohort study is warranted to elucidate the pattern of stroke and cerebrovascular involvement in Korean FD.