论文部分内容阅读
目的探讨结节性硬化症(TSC)的临床特点。方法回顾性分析28例TSC患者的临床资料。结果就诊患者年龄6月龄～32岁。12岁以下患者21例(75%)。有癫痫发作者24例(85.7%),智力低下者22例(78.6%),有皮脂腺瘤者19例(67.9%),有家族史者9例(32.1%),同时具备癫痫、智力低下及皮脂腺瘤者5例(17.9%)。脑CT检查全部病例均有脑室管膜下钙化,11例脑实质内可见钙化,其中18例患者同时行MRI检查,发现16例室管膜下结节。脑电图异常率为75%。结论本病以癫痫发作、智能障碍和皮脂腺瘤为主要临床特征。颅脑CT、MRI和脑电图检查对该疾病的诊断有重要价值。
Objective To investigate the clinical features of tuberous sclerosis (TSC). Methods The clinical data of 28 patients with TSC were retrospectively analyzed. Results Patients aged 6 months to 32 years old. 21 patients under the age of 21 (75%). There were 24 cases (85.7%) with seizure, 22 cases (78.6%) with mental retardation, 19 cases (67.9%) with sebaceous adenoma, 9 cases (32.1%) with family history, with epilepsy, Sebaceous adenomas in 5 cases (17.9%). Cerebral CT examination of all cases have subependymal calcification, 11 cases of calcification within the brain parenchyma, of which 18 patients underwent simultaneous MRI examination and found 16 cases of subependymal nodules. EEG anomalous rate of 75%. Conclusion The disease with seizures, mental retardation and sebaceous adenomas as the main clinical features. Brain CT, MRI and EEG examination of the disease diagnosis of great value.