肝豆状核变性又名Wilson氏病,是一种常染色体隐性遗传性疾病、其主要病变系铜代谢障碍引起大脑多处变性、肝硬化和肾损害,表现为进行性肢体震颤、肌张力高、构音障碍和智能减退等。国内外已有不少临床和病理研究报告,但新疆地区尚未有过此病的临床病理材料。最近,我们对一例此病患者进行了系统的临床观察及死后病理检查。患者系17岁男性中学生,生前以手拿东西不稳及步态慌张易摔倒并多次骨折,讲话不清 Wilson’s disease, also known as Wilson’s disease, is an autosomal recessive inherited disease, the main pathological changes of copper metabolism caused by multiple brain degeneration, cirrhosis and renal damage, manifested as progressive limb tremor, muscle tension High, dysarthria and decreased intelligence and so on. There are many clinical and pathological reports at home and abroad, but no clinical and pathological materials have been found in Xinjiang. Recently, we conducted a systematic clinical observation and post-mortem examination of one patient with this disease. The patient was a 17-year-old male high school student. Before his death, he was struck by a hand and instability and his gait was easily tumbled and repeatedly fractured. His speech was unclear