外周血基因阴性的结节性硬化难治性癫痫患者总结与分析

Clinical summary and analysis of patients with refractory epilepsy in tuberous sclerosis complex with peripheral blood gene negative

目的结节性硬化(Tuberous sclerosis complex,TSC)是一种多系统疾病,神经系统经常表现为难治性癫痫,核磁表现为多灶。文章总结了外周血基因阴性的TSC患者,并分析了其病史、脑电图、影像资料及术后情况。方法总结并分析2008年4月—2024年2月清华大学玉泉医院癫痫中心就诊临床及病理明确诊断为TSC并实施手术的205例患者,从中筛选出11例外周血基因检测阴性,并实施手术的TSC患者。所有患者均实施基因检测、核磁共振及长程视频脑电图监测。所有患者均实施详细术前评估并直接切除手术,颅内电极热凝手术或者激光手术。结果11例外周血基因阴性的患者术后1年内11例(100%)达到EngelⅠ级、2年内10例(91%)达到EngelⅠ级。11例患者起病年龄中位数为6月龄,8例(73%)患者<1岁起病。所有患者大脑均有多个结节。除大脑外,2例患者同时有多囊肾及皮肤改变、8例仅有皮肤改变、1例正常。结论TSC外周血基因阴性的患者中如果起病年龄偏小,发作频繁,核磁多个结节的患者经常表现为难治性癫痫,但是术后效果好,大部分患者脑电图正常。

Objective Tuberous sclerosis complex(TSC)is a multisystem disease,which often manifests as refractory epilepsy in the nervous system and multifocality in Magnetic resonance imaging(MRI).We summarized patients with TSC whose peripheral blood gene test was negative,and analyzed their medical history,EEG,MRI and postoperative conditions.Methods We summarized and analyzed 205 patients with TSC diagnosed clinically and pathologically and underwent surgery from April 2008 to February 2024.11 patients with TSC whose peripheral blood gene test was negative and underwent surgery were screened out.All patients underwent gene examination,MRI and longrange video EEG monitoring.All patients underwent detailed preoperative evaluation and direct resection surgery,intracranial electrode thermocoagulation surgery or laser surgery.Results Of the 11 patients with peripheral blood gene test negative,11(100%)patients achieved EngelⅠwithin 1 year after surgery,and 10(91%)patients achieved EngelⅠwithin 2 years.The median age of onset of 11 patients was 6 months,and 8 patients(73%)had onset less than 1 year old.All patients had multiple nodules in the brain.Except for the brain,the changes of the other organs were polycystic kidney and skin changes in 2 patients,skin changes in 8 patients,and normal in 1 patients.Conclusion TSC patients with peripheral blood gene negative who have young onset age,frequent seizures,and multiple nodules on MRI often present with refractory epilepsy.However,the postoperative effect is good,and the postoperative EEG of most patients is normal.