肝豆状核变性,为儿童或青年期发生的一种家族性、进行性、肝脑变性疾病。其主要临床表现为双侧性脑基底神经节豆状核变性软化,出现椎体外神经症状,肝硬化、腹水、门脉压增高症状,角膜缘后侧面金棕色环,血浆铜兰蛋白的含量减少和尿氨基酸的上升等。国内外已公认本病为家族性隐性遗传疾病。国外报告有家族史者最高为55%,综合国内报告有家族史者41%。本文就一母所生兄弟四人发病报告如下。 Hepatolenticular degeneration is a familial, progressive, hepatic degenerative disease that occurs in childhood or adolescence. The main clinical manifestations of bilateral basal ganglia degeneration of somatic degeneration, with extrapyramidal symptoms, cirrhosis, ascites, increased portal pressure symptoms, the corneal margin of the golden brown ring, the content of ceruloplasmin Reduce urinary amino acids and so on. The disease has been recognized as a familial recessive disease at home and abroad. Foreign reports have a family history of up to 55%, a comprehensive domestic report has a family history of 41%. This article on a mother’s brother born four reports are as follows.