肝豆状核变性(HLD)是一种常染色体隐性遗传性铜代谢障碍疾病,不少病例早期表现以精神障碍及肝功能异常为主,可误诊为肝炎,肝性脑病而延误治疗。现将1998年传染科收治的1例误诊为重症肝炎的HLD报道如下。患者男,30岁。因进行性皮肤、巩膜黄染,酱油色尿及纳差2天,反应迟钝、语言减少、烦躁不安10天于1998年9月22日 Hepatolenticular degeneration (HLD) is an autosomal recessive genetic disorder of copper metabolism, many cases of early manifestations of mental disorders and liver dysfunction mainly misdiagnosed as hepatitis, hepatic encephalopathy and delayed treatment. Now one case of HLD misdiagnosed as severe hepatitis admitted to the Department of Infectious Diseases in 1998 is reported below. Male patient, 30 years old. Due to progressive skin, scleral yellow dye, soy sauce, urine and anorexia 2 days, unresponsive, language loss, restlessness 10 days on September 22, 1998