Rare and Complex Epilepsy Unit, Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy.
Rare and Complex Epilepsy Unit, Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy, Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.
Epileptic Disord. 2021 Feb 1;23(1):53-73. doi: 10.1684/epd.2021.1253.
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder associated with refractory early-onset epilepsy. Current evidence supports surgery as the intervention most likely to achieve long-term seizure freedom, but no specific guidelines are available on TSC pre-surgical workup. This critical review assesses which TSC patients are suitable for surgical treatment, when pre-surgical evaluation should start, and what degree of surgical resection is optimal for postsurgical outcome. We searched for publications from 2000 to 2020 in Pubmed and Embase using the terms "tuberous sclerosis," "epilepsy," and "epilepsy surgery". To evaluate postsurgical seizure outcome, we selected only studies with at least one year of follow-up. Overall, we collected data on 1,026 patients from 34 studies. Age at surgery ranged from one month to 54 years. Mean age at surgery was 8.41 years. Of the diagnostic non-invasive pre-surgical tools, MRI and video-EEG were considered most appropriate. Promising data for epileptogenic tuber detection is provided from invasive SEEG studies. Data on surgery and related outcome were available for 769 patients. Seizure freedom was seen in 64.4% of patients who underwent tuberectomy, 68.9% treated with lobectomy and 65.1% with multilobar resection. The most effective surgical approach was lobectomy, even though more recently tuberectomy associated with the resection of the perituberal area seems to be the best approach to reach seizure freedom. Published postsurgical seizure freedom rates in patients with TSC were between 65% and 75%, but reduced to 48%-57% over longer follow-up periods. Early surgery might positively affect neurodevelopmental trajectory in some patients, even though data on cognitive outcome are still to be confirmed with longitudinal studies. Considering the strong correlation between epilepsy duration and neurocognitive outcome, all patients with TSC ought to be referred early to a dedicated epilepsy centre for individually tailored pre-surgical evaluation by a multi-disciplinary epilepsy surgery team.
结节性硬化症（TSC）是一种多系统遗传性疾病，与难治性早发性癫痫有关。目前的证据支持手术是最有可能实现长期无癫痫发作的干预措施，但对于 TSC 术前评估尚无具体指南。本综述评估了哪些 TSC 患者适合手术治疗、何时开始术前评估以及何种程度的手术切除对术后结果最有利。我们在 Pubmed 和 Embase 中使用了“结节性硬化症”、“癫痫”和“癫痫手术”等术语，搜索了 2000 年至 2020 年的出版物。为了评估术后癫痫发作的结果，我们只选择了至少有一年随访的研究。总体而言，我们从 34 项研究中收集了 1026 名患者的数据。手术年龄从一个月到 54 岁不等。手术时的平均年龄为 8.41 岁。在非侵入性术前诊断工具中，MRI 和视频-EEG 被认为最适用。来自有创性 SEEG 研究的有希望的数据提供了致痫性结节的检测。有 769 名患者的手术和相关结果数据。行结节切除术的患者中，64.4%癫痫无发作，行脑叶切除术的患者中，68.9%癫痫无发作，行多脑叶切除术的患者中，65.1%癫痫无发作。最有效的手术方法是脑叶切除术，尽管最近结节切除术联合结节周围区域切除术似乎是达到癫痫无发作的最佳方法。在 TSC 患者中，发表的术后癫痫无发作率在 65%至 75%之间，但在较长的随访期内降至 48%-57%。早期手术可能会对某些患者的神经发育轨迹产生积极影响，尽管关于认知结果的数据仍需通过纵向研究来证实。考虑到癫痫持续时间与神经认知结果之间的强烈相关性，所有 TSC 患者都应该尽早转介到专门的癫痫中心，由多学科癫痫手术团队进行个体化的术前评估。
