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患者女,12岁。出生时发现下腹部有一黄豆大小的白斑,左鼻孔下方及头部有针头大小红色丘疹,均无痒痛感,当时未在意,2岁时皮损逐渐蔓延至鼻部,面颊,额部,眼睑,耳部,并逐渐增大,当时曾在外院就诊,诊断为“毛发上皮瘤”。3岁时,颈部散发绿豆大的柔软肿物,胸背部出现大小不一的斑块,并缓慢增大,5岁时,突然四肢抽搐,意识丧失,口吐白沫,眼球上翻,每次发作持续0.5-1分钟,每年发作3-4次,8岁时,因全身抽搐,脑电图检查异常,诊断为“癫痫”。患者系第2胎,足月顺产,2岁始能行走,3岁会说话,至今说话无条理性,有时行为异常,目前10以内的加法不会计算,因学习成绩极差而自动退学,其父母姐姐均为健康,非近亲结婚,家族中无痴呆,弱
Female patient, 12 years old. At birth was found in the lower abdomen has a white soybean size, the left nostril and the head of the needle size of the red papules, no itching pain, did not care at the time, 2-year-old lesions gradually spread to the nose, cheeks, forehead, eyelids, Ear, and gradually increased, when the hospital was treated, diagnosed as “hair epithelial tumors.” 3 years old, the neck of large mushy mass of green beans, chest and back appeared in different sizes of plaque, and slowly increased, 5 years old, suddenly limbs convulsions, loss of consciousness, foaming at the mouth, eye up, every The second episode lasts 0.5-1 minutes and attacks 3-4 times per year. At 8 years of age, it is diagnosed as “epilepsy” due to generalized convulsions and abnormal EEG examination. The patient is the second child, full-term pregnancy, 2-year-old began to walk, 3-year-old will speak, has been speaking unreasonable, and sometimes abnormal behavior, the current 10 additions will not be calculated, due to poor academic performance and automatically drop out Parents and sisters are healthy, non-relatives get married, the family without dementia, weak