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

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

doi:10.1001/archneur.1988.00520280122030

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

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

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

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
Pages (from-to)	468-472
Number of pages	5
Journal	Archives of Neurology
Volume	45
Issue number	4
DOIs	https://doi.org/10.1001/archneur.1988.00520280122030
Publication status	Published - 04-1988
Externally published	Yes

All Science Journal Classification (ASJC) codes

Arts and Humanities (miscellaneous)
Clinical Neurology

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10.1001/archneur.1988.00520280122030

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AU - Mutoh, Tatsuro

AU - Senda, Yasuhiro

AU - Sugimura, Kimiya

AU - Koike, Yasuo

AU - Matsuoka, Yukihiko

AU - Sobue, Itsuro

AU - Takahashi, Akira

AU - Naoi, Makoto

PY - 1988/4

Y1 - 1988/4

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

Abstract

All Science Journal Classification (ASJC) codes

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