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

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Title: A Case of Hereditary Sensory and Autonomic Neuropathy Type II with Retinitis Pigmentosa
Authors: Iwanaga, Keisuke / Nakao, Yoko / Tomita, Itsuro / Satoh, Akira / Seto, Makiko / Tsujihata, Mitsuhiro / Ohnishi, Akio
Issue Date: Sep-2005
Citation: Acta medica Nagasakiensia. 2005, 50(3), p.119-121
Abstract: 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.
Keywords: Hereditarysensoryandautonomicneuropathy / HSANtypeII / Retinitispigmentosa
URI: http://hdl.handle.net/10069/9341
ISSN: 00016055
Relational Links: http://joi.jlc.jst.go.jp/JST.JSTAGE/amn/50.119
Type: Departmental Bulletin Paper
Text Version: publisher
Appears in Collections:Volume 50, No. 3

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

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