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KMID : 0359719950130020341
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Journal of the Korean Neurological Association
1995 Volume.13 No. 2 p.341 ~ p.346
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A Case of Familial Amyloid Neuropathy Presenting as Autonomic Failure
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윤영철
장세희/함동석/이강건/안병철/권오상/박언섭
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Abstract
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Familial amyloid polyneuropathy (FAP) one of the manifestation of systemic amyloidosis with an autosomal dominant inheritnce, is characterized by a progressive polyneuropathy with autonomie failure.
We report 42 year-old male patient complaining of episodic loss consciousness, impotence, and disturbances of bladder and gastrointestinal function manifested by incontinence and diarrhea. In addition, impairements of pain, temperature and touch
senation in lower extremities were noted. His mother and two of his brothers showed similar clinical pictures consisting of uncontrollabe diarrhea and postural hypotension.
The evaluation of blood pressure and heart rate during postural change and valsalva maneuver revealed autonomic dysfunction. On electrophysiological study, the patient showed diffuse sensorimotor polyneuropathy. Sural nerve biopsy disclosed
amyloid
deposition in endoneurinum.
The clinical, electrophysiological and pathological feature of the patient are described with brief reviews of relative articles.
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KEYWORD
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