肝豆核变性多数病例以神经症状表现为主。以肾病变骨质疏松为主要表现的较为少见,易被忽略。且临床类型多样,也易被漏诊或误诊.现报告如下。患者女,18岁。因肢体痛性痉挛,渐进性加重3年余,言语困难4个月于1979年来诊求治。患者15岁时因受凉致全身各关节酸痛,以四肢为主,曾诊断为“风湿性关节炎”,17岁后关节疼痛加重,蔓延至上肢及胸腹部,肢体震颤,由上肢扩展到双下肢,伴有痛性痉挛,同时伴咀嚼、吞咽和言语困难,唾涎外流。父母胞兄妹身体健康。父母非近亲结婚。 The majority of cases of degeneration of liver bean neurological manifestations of the main. Nephropathy osteoporosis as the main performance is relatively rare, easily overlooked. And a variety of clinical types, but also easy to be missed or misdiagnosed. The report is as follows. Patient female, 18 years old. Due to limb pain cramps, progressive aggravating more than 3 years, speech difficulties 4 months in 1979 to seek treatment. Patients at 15 years old due to cold caused by systemic pain in all joints, mainly to the limbs, had been diagnosed as “rheumatoid arthritis”, joint pain increased after 17 years of age, spread to upper extremities and chest and abdomen, tremor from the upper limb to the lower extremities , Accompanied by painful cramps, accompanied by chewing, swallowing and speech difficulties, saliva outflow. Parents brother and sister good health. Parents marry non-relatives.