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

BACKGROUND: Fabry disease is a lysosomal disease resulting from deficient alpha galactosidase A activity The enzyme's gene is situated on Xq22-1. Cardiac and cerebrovascular complications are usually observed late in the disease course. CASE REPORT: A 54-year-old patient was admitted for ischemic stroke subsequent to thrombosis of the right sylvian artery. The only significant event in the patient's history was hypertrophic cardiomyopathy that had progressed for 9 years. Search for an etiology identified alpha galacosidase A deficiency. Gene sequencing identified a new mutation. DISCUSSION: Two clinical forms of Fabry disease are described. The classical form has an early onset and is associated with systemic manifestations. The less common atypical form is associated with late-onset cardiomyopathy with no other systemic manifestations. Several mutations of the alpha galactosidase A gene have been recognized but to date no correlation has been established between the genotype and the phenotype. Our patient had an "intermediary" form of the disease associating a late onset, predominant cardiac manifestations, and limited systemic manifestations. The mutation observed in this case has not been described previously. Its relationship with the observed clinical phenotype remains to be demonstrated.