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女,18岁。1996年3月,活动时突觉周身乏力、头晕,继而出现典型癲痫大发作,意识丧失约2～3min。以后多次类似发作,易饥、多食、多饮,进行性消瘦,轻度活动后即感疲劳,行走不稳。其母系家族中有2位男性患者中年发病,表现为进行性衰竭死亡。患者哥哥及弟弟分别于7岁和6岁时发病,表现为进行性肌无力、消瘦,均于半年内衰竭死亡。查体:明显清瘦,四肢肌肉阵挛性发作,无明显肌萎编,心、肺、肝、脾检查未发现异常,神经系统检查:四肢肌力V级,肌张力正常,
Female, 18 years old. In March 1996, the activity suddenly felt whole body weakness, dizziness, followed by a typical epileptic seizures, loss of consciousness about 2 ~ 3min. After a number of similar episodes, easy to hunger, eat more, drink more, progressive weight loss, fatigue, fatigue, walking instability. Two males of their maternal family have middle-aged morbidity, manifested as progressive failure death. Patients brother and brother, respectively, at the age of 7 and 6 years of age, manifested as progressive weakness, weight loss, are in failure within six months of death. Physical examination: obvious lean, limb muscle clonic seizures, no significant wilting, heart, lung, liver and spleen examination found no abnormalities, nervous system examination: limb muscle strength V-class, normal muscle tone,