结节性硬化症的局部切除术:从彭菲尔德到 2018 年的回顾性评论
Resective surgery in tuberous Sclerosis complex, from Penfield to 2018: A critical review.
机构信息
Department of Paediatric Clinical Epileptology, Sleep disorders and Functional Neurology, Hospices Civils de Lyon, 59, boulevard Pinel, 69003 Lyon, France; Lyon's Neuroscience Research Center, Inserm U1028/CNRS UMR 5292, 69003 Lyon, France.
Lyon's Neuroscience Research Center, Inserm U1028/CNRS UMR 5292, 69003 Lyon, France; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Lyon 1 University, 69003 Lyon, France.
出版信息
Rev Neurol (Paris). 2019 Mar;175(3):163-182. doi: 10.1016/j.neurol.2018.11.002. Epub 2019 Jan 25.
Medically treated patients suffering from tuberous sclerosis complex (TSC) have less than 30% chance of achieving a sustained remission. Both the international TSC consensus conference in 2012, and the panel of European experts in 2012 and 2018 have concluded that surgery should be considered for medically refractory TSC patients. However, surgery remains currently underutilized in TSC. Case series, meta-analyses and guidelines all agree that a 50 to 60% chance of long-term seizure freedom can be achieved after surgery in TSC patients and a presurgical work-up should be done as early as possible after failure of two appropriate AEDs. The presence of infantile spasms, the second most common seizure type in TSC, had initially been a barrier to surgical planning but is now no longer considered a contraindication for surgery in TSC patients. TSC patients undergoing presurgical evaluation range from those with few tubers and good anatomo-electro-clinical correlations to patients with a significant "tuber burden" in whom the limits of the epileptogenic zone is much more difficult to define. Direct surgery is often possible in patients with a good electro-clinical and MRI correlation. For more complex cases, invasive monitoring is often mandatory and bilateral investigations can be necessary. Multiple non-invasive tools have been shown to be helpful in determining the placement of these invasive electrodes and in planning the resection scheme. Additionally, at an individual level, multimodality imaging can assist in identifying the epileptogenic zone. Increased availability of investigations that can be performed without sedation in young and/or cognitively impaired children such as MEG and HR EEG would most probably be of great benefit in the TSC population. Of those selected for invasive EEG, rates of seizure freedom following surgery are close to cases where invasive monitoring is not required, strengthening the important and efficient role of intracranial investigations in drug-resistant TSC associated epilepsy.
患有结节性硬化症(TSC)的接受药物治疗的患者持续缓解的机会不到 30%。2012 年的国际 TSC 共识会议以及 2012 年和 2018 年的欧洲专家小组都得出结论,手术应考虑用于药物难治性 TSC 患者。然而,手术在 TSC 中的应用仍然不足。病例系列、荟萃分析和指南都一致认为,在 TSC 患者中,手术后有 50%至 60%的机会可以长期无癫痫发作,并且在两种适当的 AED 治疗失败后,应尽早进行术前评估。婴儿痉挛症是 TSC 中第二常见的癫痫发作类型,最初是手术计划的障碍,但现在不再被认为是 TSC 患者手术的禁忌症。接受术前评估的 TSC 患者范围从结节较少且解剖-电-临床相关性良好的患者到结节负担较重的患者,后者致痫区的边界更难定义。在电临床和 MRI 相关性良好的患者中,直接手术通常是可行的。对于更复杂的病例,通常需要进行有创监测,双侧检查可能是必要的。多项非侵入性工具已被证明有助于确定这些有创电极的位置和规划切除方案。此外,在个体层面上,多模态成像可以帮助识别致痫区。增加可在年轻和/或认知受损儿童中无需镇静即可进行的检查的可用性,例如 MEG 和 HR EEG,很可能会使 TSC 人群受益。在选择进行有创 EEG 的患者中,手术后无癫痫发作的比例接近无需有创监测的病例,这加强了颅内研究在耐药性 TSC 相关癫痫中的重要和有效作用。