Refsum’s 综合征为一罕见常染色体隐性遗传性疾病,于1946年由挪威的Refsum 首次报道,至1979年全世界共报告75例,国内至1986年底仅报道7例。我院遇1例,报道如下。 患者,男,20岁,侗族。因双耳听力进行性减退10年,双下肢疼痛,麻木伴行走不稳2月余,于1989年4月8日入神经内科。患者自10岁后无明显原因出现双耳听力逐渐下降,以致小学三年级时因耳聋而中途辍学。2月前突感双下肢疼痛、麻木,继而出现行走不稳,走路呈左右摇摆状。体检:T、P、R、BP正常,心、肺、肝、脾未见异常。神经系统检查:神清,定时定向准确,无失语及精 Refsum’s syndrome is a rare autosomal recessive disease, which was first reported by Refsum in Norway in 1946. By 1979, 75 cases were reported in the world and 7 cases were reported in China by the end of 1986. I met a hospital, reported as follows. Patient, male, 20 years old, Dong. Due to binaural hearing loss 10 years, both lower extremity pain, numbness with unstable walking more than 2 months, April 8, 1989 into neurology. There was no obvious cause of binaural hearing loss in patients since the age of 10, which led to dropouts due to deafness in the third grade of primary school. 2 months ago suddenly felt the pain in both lower extremities, numbness, followed by unstable walking, walking was swinging around. Physical examination: T, P, R, BP normal heart, lung, liver, spleen no abnormalities. Neurological examination: God clear, accurate timing, no aphasia and fine