CEREBROVASCULAR COMPLICATIONS OF FABRYS-DISEASE

Fabry's disease (FD) is a rare, sex-linked disorder resulting from alp ha-galactosidase deficiency. Cerebrovascular complications have been r eported in the literature but have not been systematically analyzed, W e report 2 patients and review 51 previously reported cases (descripti ve meta-analysis) to clarify the clinical, radiologic, and pathologic features, The average age at onset of cerebrovascular symptoms was 33. 8 years for hemizygous individuals (n = 43) and 40.3 years of heterozy gotes (n = 10). The most frequent symptoms and signs were as follows ( in descending order of frequency): hemiparesis, vertigo/dizziness, dip lopia, dysarthria, nystagmus, nausea/vomiting, head pain, hemiataxia, and ataxia of gait, in the hemizygote group; and memory loss, dizzines s, ataxia, hemiparesis, loss of consciousness and hemisensory symptoms , in the heterozygote group, The vertebrobasilar circulation was sympt omatic in 67% of the hemizygotes and 60% of the heterozygotes. Intrace rebral hemorrhage was found in 4 patients (3 hemizygotes and 1 heteroz ygote). Elongated, ectatic, tortuous vertebral and basilar arteries we re the most common angiographic and pathologic features. For the hemiz ygotes, the recurrence rate for cerebrovascular disease was 76% and th e death rate was 55%; 86% of the heterozygotes had recurrent cerebrova scular event(s) and 40% died. The cerebrovascular manifestations of FD , in both hemizygotes and heterozygotes, are predominantly due to dila tive arteriopathy of the vertebrobasilar circulation, frequently recur , and portend a poor prognosis.