结节性硬化是一种较为少见的遗传性疾病,可侵犯多个系统,如神经系统、皮肤、心脏、肾脏等。临床表现为皮脂腺瘤、癫痫及智能低下三大主症。一般认为系常染色体显性遗传病。男性发病略高于女性,三分之一有家族史。患者,男,12岁,学生。反复发作性抽搐已九年。三岁时无明显诱因发生全身性抽搐,发作前眼前昏暗,腹部气体上逆,继而意识丧失,眼上翻,牙关紧闭,四肢强直,小便失禁,持续1—2分钟。醒后极度疲乏,对发作经过不能回忆,一月数次发作。四岁时面部出现皮疹。近一月来发作频繁,学习成绩优良。家族中无类似发作史。 Tuberous sclerosis is a relatively rare genetic disease that can invade multiple systems such as the nervous system, skin, heart, kidneys and the like. Clinical manifestations of sebaceous tumors, epilepsy and mental retardation of the three main symptoms. Is generally considered Department of autosomal dominant genetic disease. Men slightly higher incidence of women, one in three family history. Patient, male, 12 years old, student. Recurrent seizures have been nine years. Three-year-old no obvious incentive for generalized convulsions, before the onset of dim eyes, abdominal gas upside down, and then loss of consciousness, eyes turned, teeth closed, stiff limbs, urinary incontinence, sustained 1-2 minutes. After waking up extremely tired, after the attack can not be recalled, several episodes in January. A rash on the face when she was four years old. In the past January frequent attacks, excellent academic performance. No similar family history of attack.