肝豆状核变性系常染色体隐性遗传的铜代谢障碍所致的家族性变性病。对我院近5年收治的31例肝豆状核变性患者回顾性研究。结果14岁以下发病19例，15～34岁发病12例，影像学检查异常率为96．77％，主要表现对称性底节区异常信号（或低密度），此外还有丘脑、脑干等部位的异常信号，为肝豆状核变性的诊断提供了可靠的依据。 Hepatolenticular degeneration is an autosomal recessive genetic disorder caused by copper metabolism of familial degenerative diseases. 31 cases of hepatolenticular degeneration treated in our hospital for nearly 5 years were retrospectively studied. Results There were 19 cases under 14 years of age and 12 cases aged 15 to 34 years old. The abnormal rate of imaging examination was 96.77%. Sympathetic signals of abnormality of the basal ganglia (or low density) were observed mainly. In addition, the thalamus and brainstem The abnormal signal of the site provides a reliable basis for the diagnosis of hepatolenticular degeneration.