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结节性硬化症又称Bournerille氏病,为常染色体显性遗传病。临床表现为皮肤损害,智能碍障和癫痫发作三主征。其中,皮肤损害形式多样,在未出现神经系统症状以前易误诊。现报道1例如下。患者女,7岁。于2岁时家长发现其身体散在弥漫性咖啡色素斑,一年后出现散在皮赘状隆起。曾诊色素失禁症。6岁时不明原因出现发作性意识丧失,口吐白沫,四肢抽搐。几分钟后症扶自然缓解,脑电图呈爆发性尖棘波发放。拟诊癫痫。给予丙戊酸钠抗癫痫治疗,症状控制,但其智能明显不如同龄儿,未入
Tuberous sclerosis, also known as Bournerille’s disease, is an autosomal dominant disease. Clinical manifestations of skin damage, intellectual disorders and seizures three main symptoms. Among them, the skin damage in various forms, in the absence of neurological symptoms easily misdiagnosed. 1 case is reported below. Female patient, 7 years old. At the age of 2, parents found that their bodies were scattered with diffuse caffeine pigment spots, and one year later they appeared scattered peepholes. Have been diagnosed with pigment incontinence. 6-year-old unexplained seizures occurred loss of consciousness, foaming at the mouth, limbs and convulsions. A few minutes after the natural help relief, EEG was explosive spike wave issued. Tentative epilepsy. Give sodium valproate antiepileptic treatment, symptom control, but its intelligence is obviously not as good as their children, did not enter