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肝豆状核变性是一种常染色体隐性遗传的铜的代谢障碍性疾病。现将遇到的3例肝豆状核变性报告如下: 例1,女,19岁,因手足多动,走路不稳一年,加重二个月就诊。平时因学习成绩差退学。曾在当地医院诊断为舞蹈病。既往史及家族史无特殊记载。查体:内科系统检查未见异常体征。神经系统检查:病人神清语明,表情呆板,反应迟钝,计算力差,发音正常。颅神经正常。四肢肌力及肌张力正常。走路不稳,呈蹒跚步态,腱反射亢进,病理征未引出。双侧指鼻试验及跟膝胫试验不稳准,轮替试验差。查到K—F
Wilson’s disease is an autosomal recessive copper metabolic disorder. Now encounter 3 cases of Wilson’s disease reported as follows: Example 1, female, 19 years old, because of hand, foot and more movement, walking instability for one year, increase two months treatment. Usually due to poor academic performance school. He was diagnosed with chorea at a local hospital. Past history and family history no special records. Physical examination: no abnormal signs of medical system examination. Nervous system examination: The patient clearly states that the expression is dull, the reaction is slow, the calculation is poor, and the pronunciation is normal. Cranial nerve normal. Limb muscle strength and muscle tone normal. Walking instability, was staggering gait, tendon hyperreflexia, pathological levy did not lead. Bilateral nasal test and knee shin test instability, rotation test poor. Find K-F