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目的分析结节性硬化症(TSC)患儿的临床、视频脑电图(VEEG)和影像学特征。方法对2000年6月-2010年6月在新疆维吾尔自治区人民医院儿科诊断为TSC患儿的临床资料,包括性别、年龄、民族构成、癫发作形式、皮肤损害情况和眼底情况等,以及头颅CT/MR I资料和VEEG。结果 41例TSC患儿中癫发作36例,癫的发生率为88.71%(36/41例),局限性发作为癫主要发作形式。VEEG异常者占77.78%(91/117例次),同一例患儿可见多种异常。TSC患儿头颅CT检查均有异常,均可见侧脑室外侧壁室管膜下结节状高密度影;23例TSC患儿头颅MR I异常,同一例患儿病变可以累及多个脑叶,并且病变范围较头颅CT更为广泛,头颅CT/MR I异常部位与VEEG的异常部位不完全相符。患儿眼底均未发现异常。结论 TSC患儿诊断主要依靠皮肤损害和头颅影像学检查,头颅CT/MR I检查对该病有诊断意义,但与VEEG的异常部位不完全相符,从经济学角度上认为行头颅CT检查更有价值。癫发作主要类型为局限性发作。
Objective To analyze clinical, video EEG (EEG) and imaging features of children with tuberous sclerosis (TSC). Methods The clinical data of children with TSC diagnosed in the People’s Hospital of Xinjiang Uyghur Autonomous Region from June 2000 to June 2010 were retrospectively analyzed, including gender, age, ethnic composition, epileptic seizure, skin damage and fundus situation, as well as CT MRI data and VEEG. Results Thirty-one children with TSC had epileptic seizure in 36 cases, the incidence of epilepsy was 88.71% (36/41 cases), and the localized seizure was the main seizure form of epilepsy. Abnormal VEEG accounted for 77.78% (91/117 cases), the same case of multiple abnormalities can be seen. TSC in children with craniocerebral CT abnormalities are visible lateral ventricle lateral subependymal nodular hyperdense; 23 cases of TSC cranial MRI abnormalities in the same case of children lesions can involve multiple lobes, and Lesions range more extensively than the head CT, cranial CT / MR I abnormal parts and abnormal parts of VEEG does not exactly match. Children found no abnormalities in the fundus. Conclusion The diagnosis of TSC in children mainly depends on the skin lesions and cranial imaging examination. The CT / MRI examination of head CT is of diagnostic significance for this disease, but it is not completely consistent with the abnormal site of VEEG. From the economic point of view, value. The main type of epileptic seizures.