© 2002 Journal of Neurology Neurosurgery and Psychiatry
LESSON OF THE MONTH
Neurological presentation of Fabry's disease in a 52 year old man
1 Research Fellow, Epilepsy Unit Western Infirmary, Glasgow G11 6NT, UK
2 Walton Centre for Neurology and Neurosurgery, Liverpool L9 7LJ, UK
Correspondence to:
Correspondence to:
Dr J P Leach, Department of Neurology, Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool L9 7LJ, UK;
j.leach{at}liv.ac.uk
Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme 
galactosidase A. Previously unrecognised Fabry's disease presenting in a 52 year old man being investigated for progressive dysarthria and ataxia is discussed. Brain magnetic resonance imaging suggested the presence of small vessel disease but skin biopsy (done to exclude cerebral autosomal dominant arteriopathy with subcortical infarcts and leucencephalopathy) showed typical changes of Fabry's disease. This diagnosis was confirmed by subsequent enzyme assays. The authors contend that Fabry's disease should be excluded, at least on clinical grounds, in patients with otherwise unexplained cerebrovascular disease.
Keywords: Fabry's disease; cerebrovascular disease
Abbreviations: CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leucencephalopathy; CSF, cerebrospinal fluid
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