[Efficacy of replacement enzyme therapy on central nervous system manifestations in Fabry's disease].

INTRODUCTION

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.

OBSERVATION: 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.

DISCUSSION: 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.

CONCLUSION

Enzyme replacement therapy seems beneficial in Fabry's disease with central nervous system involvement.