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A Case of Hereditary Sensory and Autonomic Neuropathy Type II with Retinitis Pigmentosa

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タイトル: A Case of Hereditary Sensory and Autonomic Neuropathy Type II with Retinitis Pigmentosa
著者: Iwanaga, Keisuke / Nakao, Yoko / Tomita, Itsuro / Satoh, Akira / Seto, Makiko / Tsujihata, Mitsuhiro / Ohnishi, Akio
発行日: 2005年 9月
引用: Acta medica Nagasakiensia. 2005, 50(3), p.119-121
抄録: A 20-year-old female had noted a mild truncal instability during her childhood. At 12 years of age, she became aware of decreased visual acuity. She was made a diagnosis of retinitis pigmentosa at that time. On admission, deep tendon reflexes were absent in all limbs. The patient's deep sensations were impaired throughout her entire body, except for her face and neck. Superficial sensations were impaired on her legs. Sensory nerve action potentials were not elicited, but motor nerve conductions were all within normal ranges. A biopsy of the sural nerve showed a marked reduction in the myelinated fibers, but not in the unmyelinated fibers. The neurological findings were consistent with the hereditary sensory and autonomic neuroathy type II disease. The relationship between these two diseases remains unsolved.
キーワード: Hereditarysensoryandautonomicneuropathy / HSANtypeII / Retinitispigmentosa
URI: http://hdl.handle.net/10069/9341
ISSN: 00016055
関連リンク : http://joi.jlc.jst.go.jp/JST.JSTAGE/amn/50.119
資料タイプ: Departmental Bulletin Paper
原稿種類: publisher
出現コレクション:Volume 50, No. 3

引用URI : http://hdl.handle.net/10069/9341



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