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 journalArticlepeer-review

22 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 languageEnglish
Pages (from-to)468-472
Number of pages5
JournalArchives of Neurology
Volume45
Issue number4
DOIs
Publication statusPublished - 04-1988
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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