title: Young woman with recurrent ischemic strokes diagnosed as Fabry disease: lessons learned from a case report.
abstract: Several epidemiologic studies suggest that Fabry disease should be considered in young patients with cryptogenic stroke. We report a case of a young woman presenting with recurrent ischemic strokes who was finally diagnosed with Fabry disease after impaired kidney function had been identified. Fabry disease should be considered in unexplained cases of first or recurrent strokes in young patients disregarding the gender of the patient, especially when chronic kidney disease and/or proteinuria are present. Renal function should be closely monitored in patients with strokes and followed up after the event. In this case, intravenous thrombolysis was performed after the second ischemic event. No other case of thrombolysis for ischemic stroke in Fabry disease has been described in the literature.
authors.affiliation: Department of Internal Medicine, Centre Hospitalier de Valence, 26953 Valence, France. tzenone@ch-valence.fr
authors.forename: Thierry
authors.initials: T
authors.lastname: Zenone
authors.forename: Victor
authors.initials: V
authors.lastname: Chan
mesh_terms: D000328:Adult; D002545:Brain Ischemia / Q000175:diagnosis* / Q000188:drug therapy / Q000628:therapy; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000628:therapy; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D007677:Kidney Function Tests; D010291:Paresis / Q000209:etiology; D012008:Recurrence; D020521:Stroke / Q000175:diagnosis* / Q000188:drug therapy / Q000628:therapy; D015912:Thrombolytic Therapy; D014057:Tomography, X-Ray Computed; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta