Neurological presentation of Fabry's disease in a 52 year old man. Issue 3 (1st September 2002)

• Record Type: Journal Article
• Authors: Mohanraj, R; Leach, J P; Broome, J C; Smith, D F
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 73:Issue 3(2002)
• Page Start: 340
• Page End: 342
• Publication Date: 2002-09-01
• Subjects: Fabry's disease -- cerebrovascular disease; CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leucencephalopathy -- CSF, cerebrospinal fluid; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.73.3.340
• Languages: English
• ISSNs: 0022-3050

Abstract

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.