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Fabry's disease(FD)is a rare,sex-linked disorder resulting from a- galactosidase deficiency.Cerebrovascular complications have been reported in the literature but have not been systematically analyzed.We report 2 patients and review 51 previously reported cases(descriptive 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 average age of heterozygotes(n= 10).The most frequent symptoms and signs were as follows(in descending order of frequency):hemiparesis,vertigo/dizziness,diplopia,dysarthria, nystagmus,nausea/vomiting,head pain,hemiataxia,and ataxia of gait,in the hemizygote group;and memory loss,dizziness,ataxia,hemiparesis,loss of consciousness and hemisensory symptoms in the heterozygote group.The vertebrobasilar circulation was symptomatic in 67%of the hemizygotes and 60%of the heterozygotes.Intracerebral hemorrhage was found in 4 patients (hemizygotes and 1 heterozygote).Elongated,ecstatic,tortuous vertebral and basilar vertebral arteries were the most common angiographic and pathologic features.For the hemizygotes,the recurrence rate for cerebrovascular disease was 76%and the death rate was 55%;86%of the heterozygotes had current cerebrovascular event(s)and 40%died.The cerebrovascular manifestations of FD,in both hemizygotes and heterozygotes,are predominantly due to dilative arteriopathy of the vertebrovascular circulation,frequently recur,and portend a poor prognosis. |
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