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一女性病人,原来健康,16岁出现精神失常,日益严重,从17岁到22岁死亡时为止,一直在精神科看病,多数时间住院.病人有若干精神分裂症状,忧郁,淡漠,笑容不自然,孤独退缩,玩弄大便.有一次发生冲动行为,由楼梯上跳下,折断胫骨和腓骨.到20岁时,出现痉挛步态和指划样动作,这时查血清铜和铜的排泄量,方确诊为肝豆状核变性.给低铜饮食,用青霉胺和硫酸钾治疗,但因出现血小板减少症,治疗中断.病程每况愈下,数月后,死于肺炎.病理解剖肯定了肝豆状核变性的诊断.
A female patient, originally healthy and suffering from mental disorder at the age of 16, has been suffering from psychiatric illness and hospitalization most of the time from the age of 17 to the death of 22. The patient has several schizophrenia symptoms, melancholy, indifference, and unnatural smile , Lonely withdrawal, playing with stool .Once an impulsive act, jumped off the stairs, breaking off the tibia and fibula .Twenty years of age, convulsions gait and finger-like action, then check serum copper and copper excretion, Side of the diagnosis of liver degeneration. To the low-copper diet, with penicillamine and potassium sulfate treatment, but due to thrombocytopenia, treatment interruption. The course of the worse, after a few months, died of pneumonia.Pathological anatomy affirmed the liver Degeneration of the nucleus of the diagnosis.