Fabry disease and stroke: a new mutation with an atypical phenotype

BACKGROUND: Fabry disease is a lysosomal disease resulting from deficient a lpha galactosidase A activity The enzyme's gene is situated on Xq22-1. Card iac and cerebrovascular complications are usually observed late in the dise ase course. CASE REPORT: A 54-year-old patient was admitted for ischemic stroke subsequ ent to thrombosis of the right sylvian artery. The only significant event i n the patient's history was hypertrophic cardiomyopathy that had progressed for 9 years. Search for an etiology identified alpha galacosidase A defici ency. Gene sequencing identified a new mutation. DISCUSSION: Two clinical forms of Fabry disease are described. The classica l form has an early onset and is associated with systemic manifestations. T he less common atypical form is associated with late-onset cardiomyopathy w ith no other systemic manifestations. Several mutations of the alpha galact osidase A gene have been recognized but to date no correlation has been est ablished between the genotype and the phenotype. Our patient had an "interm ediary" form of the disease associating a late onset, predominant cardiac m anifestations, and limited systemic manifestations. The mutation observed i n this case has not been described previously. Its relationship with the ob served clinical phenotype remains to be demonstrated.