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例1,12岁女孩,反复发作性惊厥十一年。1岁起无原因抽搐,以右侧肢体为著,某医院儿科按“癫痫”常规给服用苯妥英纳,但每隔1～2月仍发作一次,渐出现反应迟钝,8岁时智力明显低下,鼻根两旁出现红色丘疹,10岁右侧肢体偏瘫,视力下降。查体:发育营养差,表情呆滞,鼻根部及颊部有数十个红色丘疹,腰背部有三处叶状白斑,右上下肢软瘫,肌力0级。脑电图示阵发性高电位多棘波,头颅平片示颅内有散在、不规则钙化斑,颊部丘疹活检为皮脂腺瘤,眼底检查有视网膜瘤,抗惊厥治疗无效,终因癫痫持续状态死亡。死后颅脑穿刺镜检:多核星形细胞和胶质细胞。病理诊断:结节性脑硬化症。
Example 1, 12-year-old girl recurrent seizures eleven years. 1-year-old no reason for convulsions, with the right limb as a hospital pediatric by “epilepsy” routine to take phenytoin, but still attack every 1 to 2 months, gradually appear unresponsive, at 8 years old was significantly lower intelligence, Red papules on both sides of the nose root, 10-year-old right hemiplegia, visual acuity decreased. Physical examination: development of poor nutrition, dull expression, nasal roots and cheeks dozens of red papules, waist and back three leaf-like white spots, right upper limb weakness, muscle strength 0. Electroencephalogram showed paroxysmal high spikes, cranial plain showed intracranial scattered, irregular calcified plaque, cheek papular biopsy sebaceous tumors, fundus examination of retinoblastoma, anticonvulsant therapy is invalid, the end result of epilepsy The state of death. Postmortem craniocerebral microscopy: multinucleated astrocytes and glial cells. Pathological diagnosis: Nodular sclerosis.