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April 1988

Severe Orthostatic Hypotension in a Female Carrier of Fabry's Disease

Author Affiliations

From the Division of Neurology, Second Department of Internal Medicine, Fukui (Japan) Medical School (Dr Mutoh); the Departments of Neurology (Drs Senda, Sugimura, Koike, Matsuoka, and Takahashi) and Biochemistry (Dr Naoi), Nagoya (Japan) University School of Medicine; and National Chubu Hospital, Nagoya, Japan (Dr Sobue).

Arch Neurol. 1988;45(4):468-472. 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.

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