Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Fabry Disease Exhibiting Recurrent Stroke and Persistent Inflammation
Yoko Kikumoto, Yasufumi Kai, Hiroshi Morinaga, Mutsunori Iga-Murahashi, Mikitaro Matsuyama, Takashi Sasaki, Hiroki Maruyama, Masaaki Shimotori, Hirofumi Makino, Hitoshi Sugiyama, Akihiko Okayama
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Keywords: Fabry disease, central nervous system, recurrent strokes, ocular involvement, chronic inflammation, enzyme replacement therapy
JOURNAL OPEN ACCESS

2010 Volume 49 Issue 20 Pages 2247-2252

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Abstract

We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest the association among persistent inflammation, ocular involvement and recurrent stroke in a certain subset of Fabry disease patients. Both cases received enzyme replacement therapy with no improvement in inflammatory signs or laboratory data. These cases suggest that Fabry disease should be considered in young patients with cryptogenic stroke or CNS manifestations and fever of unknown origin.

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© 2010 by The Japanese Society of Internal Medicine
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