Abstract
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.
Original language | English |
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Pages (from-to) | 468-472 |
Number of pages | 5 |
Journal | Archives of Neurology |
Volume | 45 |
Issue number | 4 |
DOIs | |
Publication status | Published - 04-1988 |
Externally published | Yes |
All Science Journal Classification (ASJC) codes
- Arts and Humanities (miscellaneous)
- Clinical Neurology