Mutoh T, Senda Y, Sugimura K, Koike Y, Matsuoka Y, Sobue I, Takahashi A, Naoi M
Second Department of Internal Medicine, Fukui Japan Medical School.
Arch Neurol. 1988 Apr;45(4):468-72. doi: 10.1001/archneur.1988.00520280122030.
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.
