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结节性硬化是少见的遗传性疾病,临床表现以癫痫、皮脂腺瘤、智力低下为特征,近几十年来陆续有病例报告。我科于1982年收住院两例,其中死亡一例,现将临床与病理报告如下。 例1.杨某女,16岁。自7岁始反复惊厥、用镇静药物无效,智力逐渐减退,9岁发现面颊两侧有少数皮疹,近半年来出现尿少,浮肿、乏力、时感气短,门诊以红斑狼疮收住院。体检:体温38.8℃,血压90/60。表情呆滞,对周围反应迟钝,
Tuberous sclerosis is a rare genetic disease, the clinical manifestations of epilepsy, sebaceous tumors, mental retardation is characterized by several cases have been reported in recent years. Our department admitted to hospital in 1982 in two cases, of which one case of death, now the clinical and pathological reports are as follows. Example 1. Young woman, 16 years old. Repeated seizures since the age of 7, with sedative drugs, mental retardation, 9-year-old found that there are a few rashes on both sides of the cheek, nearly six months, less urine, edema, fatigue, shortness of breath, outpatient reception with lupus. Physical examination: body temperature 38.8 ℃, blood pressure 90/60. Dull expression, slow reaction to the surrounding,