Neurological presentation of Fabry's disease in a 52 year old man.

@article{Mohanraj2002NeurologicalPO,
  title={Neurological presentation of Fabry's disease in a 52 year old man.},
  author={Rajiv Mohanraj and John Paul Leach and John C. Broome and David F. Smith},
  journal={Journal of neurology, neurosurgery, and psychiatry},
  year={2002},
  volume={73 3},
  pages={340-2}
}
Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha 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… CONTINUE READING