We report on a 27-year-old man with Fabry disease who had widespread white-matter lesions (WMLs) despite the absence of renal or cardiac manifestations. Genomic analysis revealed a novel mutation: a GAT deletion at nucleotide position 234–236 in exon 5 of the coding region. After 12 months of enzyme replacement therapy (ERT), most of the WMLs had disappeared. Cell counts and protein levels in the cerebrospinal fluid also decreased. These findings suggest that ERT may play a role in the recovery of WMLs.
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Published online: January 30, 2009
Accepted: December 23, 2008
Received in revised form: December 21, 2008
Received: April 27, 2008
☆Disclosure: The authors report that there are no conflicts of interest. Co-Author Disclosure Forms were obtained from all authors.
© 2008 Elsevier B.V. Published by Elsevier Inc. All rights reserved.