[Neurological manifestations of Fabry disease]

To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease.

Fabry disease is a hereditary deficiency of lisosomal alpha-galactosidase A resulting in accumulation of globotriaosylceramide in vascular endothelium and smooth-muscle cells. Neurological manifestations include severe attacks of neuropathic pain and acroparesthesias at early age and small-vessel occlusive disease in adults. Other manifestations are renal dysfunction, cardiomyopathy, abdominal pain, deafness, angiokeratoma and corneal opacity. Cerebrovascular involvement results from small-arteries lipid deposition, impairment in cerebrovascular reactivity, vertebrobasilar ectasia as well as vascular risk factors such as nephrogenic hypertension and cardiac disease. Fabry disease prevalence seems to be higher than previously described and currently many patients might be underdiagnosed.

Fabry disease must be included in the differential diagnosis of stroke in young people, particularly in those with criptogenic etiology, vertebrobasilar location and renal dysfunction. The diagnosis has important therapeutic implications since it is available a replacement therapy with agalsidase, a recombinant enzyme which has been effective in lipid tissue clearance and clinical improvement in Fabry patients.