肝豆状核变性(HLD)亦称Wilson病,是一种少见的常染色体隐性遗传性铜代谢病,人群患病率约(0.3~3.0)/10万[1]。由于定位于13q14.3铜转运基因ATP7B发生突变从而导致铜代谢障碍,使铜在体内蓄积,表现为肝脏、神经、精神等症状。神经系统主要累及锥体外系,罕有周围神经受累的报告,现 Hepatolenticular degeneration (Wilson’s disease), also known as Wilson’s disease, is a rare autosomal recessive inherited copper metabolic disease with a prevalence of about 0.3 to 3.0 per 100,000 people. Due to the mutation of ATP7B located on the 13q14.3 copper transporter gene, which leads to copper metabolism disorder, copper accumulates in the body and presents as liver, nerves and spirit. Nervous system mainly involving the extrapyramidal system, a rare peripheral nerve involvement report, now