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Fabry disease (FD, OMIM 301 500) is a lysosomal storage disorder caused by an X-linked inborn error of glycosphingolipid catabolism, resulting from deficient activity of α-galactosidase A. It leads to accumulation of globotriaosylceramide (Gb3) in various organs. Manifestations of FD occur mostly in affected hemizygous males but also in heterozygous (carrier) females.1,2
Neurological complications in FD include CNS involvement, acroparesthesia, peripheral neuropathy, cranial nerve palsies with predominant VIIIth nerve involvement, and autonomic dysfunction.
Because a specific treatment has recently emerged, the diagnosis of FD may have a strong practical impact. Yet, enzyme replacement therapy has no proven efficacy on CNS Fabry manifestations.
We report on a woman who suffered from chronic meningitis which revealed heterozygous FD.
A 25-year-old woman was referred because of headache. Since the age of 12 years, the patient had complained of recurrent episodes of paresthesia in her four limbs, over 7–15 days, and sometimes leading to syncope. Headache started in November 2003, lasting 2–3 h everyday. In March 2004, the patient was hospitalised because her headache was unusually severe. At physical examination, hypoesthesia was affecting the left part of the body with respect to the face. C …
Competing interests: Dr Lidove has received support from TKT Europe AB (Shire Human Genetics, Basingstoke, UK), Actelion Pharmaceuticals Ltd and travel fees from Genzyme Corporation; Professor Papo has received support from Genzyme Corporation; Dr Chauveheid, Dr Benoist, Dr Alexandra and Dr Klein have no conflicts of interest to declare.
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