title: [Efficacy of replacement enzyme therapy on central nervous system manifestations in Fabry's disease].
abstract: BACKGROUND
  Fabry's disease (FD) an X-linked inherited lysosomal sphingolipidosis leads to a multisystemic disease. The efficacy of replacement enzyme therapy on the central nervous system manifestations has not been evaluated.
  
  
  METHODS
  A 38-year-old patient suffered from a Fabry's disease diagnosed at the age of 10. Since the age of 26, he suffered from repeated ischemic strokes. Since the age of 34, he was treated by enzyme replacement therapy (agalsidase beta, 1 mg/kg/14 days). He had a cerebral MRI evaluation 1 year and 4 years after the initiation of the enzyme therapy. No new clinical event occurred during the follow-up and the imaging did not evidence new lesion.
  
  
  CONCLUSIONS
  We report the cerebral MRI follow-up under enzyme replacement therapy in a patient with Fabry's disease with central nervous system involvement. No new lesion appeared.
  
  
  CONCLUSIONS
  Enzyme replacement therapy seems beneficial in Fabry's disease with central nervous system involvement.
authors.affiliation: Unité de Neurologie Générale, Pôle de Psychiatrie et de Neurologie, CHU Grenoble, BP 217, 38043 Grenoble cedex 09, France. Gerard.besson@ijf-grenoble.fr
authors.forename: G
authors.initials: G
authors.lastname: Besson
authors.forename: W
authors.initials: W
authors.lastname: Vadot
authors.forename: J
authors.initials: J
authors.lastname: Guellerin
mesh_terms: D000328:Adult; D002490:Central Nervous System / Q000187:drug effects* / Q000201:enzymology / Q000473:pathology; D056947:Enzyme Replacement Therapy / Q000379:methods; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D055502:Secondary Prevention; D020521:Stroke / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta