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

DOI 機関リポジトリ HANDLE

この論文をさがす

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.

収録刊行物

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ