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    Arch Neurol. 1988 Apr;45(4):468-72.

    Severe orthostatic hypotension in a female carrier of Fabry's disease.

    Mutoh T, Senda Y, Sugimura K, Koike Y, Matsuoka Y, Sobue I, Takahashi A, Naoi M.

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    Second Department of Internal Medicine, Fukui Japan Medical School.

    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.

    PMID:
    3128256
    [PubMed - indexed for MEDLINE]

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      Cited by 2 PubMed Central articles

      • Review Fabry disease. [Orphanet J Rare Dis. 2010]
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        Germain DP. Orphanet J Rare Dis. 2010 Nov 22; 5:30. Epub 2010 Nov 22.
      • Review Neurology and the skin. [J Neurol Neurosurg Psychiatry....]
        Review Neurology and the skin.
        Hurko O, Provost TT. J Neurol Neurosurg Psychiatry. 1999 Apr; 66(4):417-30.

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