Neurological presentation of Fabry's disease in a 52 year old man
- 1Research Fellow, Epilepsy Unit Western Infirmary, Glasgow G11 6NT, UK
- 2Walton Centre for Neurology and Neurosurgery, Liverpool L9 7LJ, UK
- 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
- Received 1 February 2002
- Accepted 27 February 2002
Abstract
Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme α 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.
- CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leucencephalopathy
- CSF, cerebrospinal fluid
