A 21-year-old woman in a family with a history of Fabry's disease showed orthostatic hypotension and whorl-like corneal opacity typical for Fabry's disease. Biochemical studies revealed that she was a heterozygote of the Fabry gene. A variety of autonomic function tests demonstrated both sympathetic and parasympathetic dysfunction. To our knowledge, the present case is the first report of a heterozygous female carrier of Fabry's disease presenting dysfunction of the autonomic nervous system.
|Number of pages||5|
|Journal||Archives of Neurology|
|Publication status||Published - 04-1988|
All Science Journal Classification (ASJC) codes
- Arts and Humanities (miscellaneous)
- Clinical Neurology