Abe M, Umehara F, Nakagawa M, Izumo S, Osame M
Third Department of Internal Medicine, Faculty of Medicine, Kagashima University.
Rinsho Shinkeigaku. 1993 Apr;33(4):411-5.
A 33-year-old woman, whose parents were consanguineously married, was admitted to our hospital because of progressive difficulty in walking and hoarseness in speech. She had been in good health as a child, at age 16 ulcerations appeared on the skin of feet, and have been recurrent. AT age 22, bilateral cataracts were removed. From the age of 26 years, the deformities in the toes and fingers worsened and she had difficulty in walking. At age 32, hoarseness was noticed. The patient was a diminutive woman and the skin was dry, thin and hyperpigmented. The neurological examination revealed mental retardation, spastic paraparesis and polyneuropathy. Electrophysiological studies revealed a slowing of central and peripheral nerve conduction. Sural nerve biopsy revealed a significantly higher incidence of de- and remyelination and a loss of myelinated fibers. These data suggest that the central and peripheral nervous systems are affected in Werner syndrome.
一名33岁女性，其父母为近亲结婚，因进行性行走困难和声音嘶哑入院。她儿时身体健康，16岁时足部皮肤出现溃疡，且反复发作。22岁时，双侧白内障被摘除。从26岁起，脚趾和手指畸形加重，行走困难。32岁时，出现声音嘶哑。患者身材矮小，皮肤干燥、变薄且色素沉着。神经系统检查发现智力发育迟缓、痉挛性截瘫和多发性神经病。电生理研究显示中枢和周围神经传导减慢。腓肠神经活检显示脱髓鞘和再髓鞘化的发生率显著更高，且有髓纤维丢失。这些数据表明，沃纳综合征会影响中枢和周围神经系统。
