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例1:女,18岁.四肢震颤,语言含糊不清,逐渐加重3年,于1984年4月入院.父母非近亲婚配,无类似家族史.体检:发育正常,语言含糊,四肢张力低,意向性震颤.未见角膜色素环.血糖、血常规、肝、肾功能正常,B超肝脾不大,未见异常图象,铜氧化酶吸光度正常,CSF:糖6.99mmol/L,蛋白0.43g/L,氯化物122mmol/L;脑电图偶见尖波形象倒置,肌电图正常,脑CT未见异常.活检:周围神经轻度脱髓鞘病变(活检取材腓浅神
Example 1: Female, 18 years old Tremorous limbs, language ambiguous, gradually aggravating 3 years, admitted to hospital in April 1984. Parents non-relatives marriage, no similar family history Physical examination: normal development, vague language, limbs tension is low, Intentional tremor. No corneal pigment ring. Blood glucose, blood, liver and kidney function is normal, B super-liver and spleen is not large, no abnormal images, copper oxidase normal absorbance, CSF: sugar 6.99mmol / L, protein 0.43 g / L, chloride 122mmol / L; EEG occasionally sharp wave image upside down, normal EMG, no abnormal brain CT. Biopsy: Peripheral nerve mild demyelinating lesions