患者,男,17岁,因发作性意识不清,四肢抽搐5年,面肌及肢体抽动伴智能减退3年,于93年9月15日入院。患者从5年前出现发作性意识不清,双眼上翻面色发绀、流涎、四肢对称性强直性抽搐发作,持续10分钟左右缓解,以后每日发作一次,由大发作逐渐转变为身体局部肌肉的抽动,如:面、肢体等部位,每次数秒钟左右,近3年来智能减退明显,不知饥饱,曾在上海华山医院做腋下皮肤活检,查到Lafora小体,确诊为Lafora氏病。第一胎足月顺产,其母妊娠期无感染、外 Patient, male, 17 years old, due to episodic confusion, convulsions of limbs for 5 years, facial muscle and limb twitch with intelligent decline for 3 years, on September 15, 93 admitted. Patients from the onset of 5 years ago, awareness of confusion, his eyes turned pale cyanosis, salivation, limbs tetanic tetanus attack, sustained about 10 minutes to ease, after a daily attack, from a major episode into a gradual shift to body muscle Tic, such as: face, body and other parts, each a few seconds or so, the past three years intelligent decline significantly, I do not know hunger, had a hua Shan Hospital in Shanghai underarm skin biopsy, found Lafora body, diagnosed as Lafora’s disease. The first full-term fetus, its mother had no infection during pregnancy, outside