肝豆状核变性是一种常染色体隐性遗传性疾病,由铜代谢障碍所致,常易误诊。例1为女性10岁。近2年哭笑无常、流涎、言语不清、肢体震颤,行走、持物不稳。因血沉快,ASO高,曾误为“风湿性关节炎”。体检:智力差,强哭或笑,持物笨拙,双上肢节律性扑翼样粗大震颇,肌张力呈铅管样增强,角膜 Wilson’s disease is an autosomal recessive disease caused by copper metabolism disorders, often misdiagnosed. Example 1 Female 10 years old. Nearly two years of dumbness, drooling, unclear speech, limb tremor, walking, holding instability. Due to rapid blood flow, ASO high, once mistaken for “rheumatoid arthritis.” Physical examination: poor intelligence, crying or laughing, holding things clumsy, rhythm of both upper limb rhythm quite thick shock, muscle tension showed a tube-like enhancement, the cornea