Revista de neurologia
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To present a review of the neurological manifestations, diagnosis and treatment of Fabry disease. ⋯ 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.