This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Tatsuro Mutoh, MD; Yasuhiro Senda, MD; Kimiya Sugimura, MD; Yasuo Koike, MD; Yukihiko Matsuoka, MD; Itsuro Sobue, MD; Akira Takahashi, MD; Makoto Naoi, MD

Arch Neurol. 1988;45(4):468-472.

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.

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).

Footnotes
Accepted for publication Sept 18, 1987.

Reprint requests to the National Institutes of Health, National Institute of Child Health and Human Development, Section on Growth Factors, Bldg 6, Room 1A07, Bethesda, MD 20892 (Dr Mutoh).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Neurology and the skin
Hurko and Provost
J. Neurol. Neurosurg. Psychiatry 1999;66:417-430.
FULL TEXT