Hôpitaux Universitaires de Strasbourg, Neurology Department, Strasbourg, France; Hôpitaux Universitaires de Strasbourg, Reference Centre for Rare Epilepsies (member of the ERN network EPICARE), Strasbourg, France.
Assistance publique-Hôpitaux de Marseille, Epileptology and Cerebral Rhythmology, Marseille, France; Assistance publique-Hôpitaux de Marseille, Reference Centre for Rare Epilepsies (member of the ERN network EPICARE), Marseille, France; Aix-Marseille University, INSERM, Institut de Neurosciences des Systèmes, Marseille, France.
Rev Neurol (Paris). 2024 Oct;180(8):807-817. doi: 10.1016/j.neurol.2024.04.009. Epub 2024 Jun 11.
Previous studies showed the efficacy of epilepsy surgery in carefully selected children with epilepsy associated with tuberous sclerosis complex. However, how this selection is conducted, and the characteristics of the patients brought to surgery are still poorly described. By conducting a multicentric retrospective cohort study covering the practice of the last twenty years, we describe the paths leading to epilepsy surgery in children with epilepsy associated with tuberous sclerosis complex.
We identified 84 children diagnosed with tuberous sclerosis complex and epilepsy by matching two exhaustive registries of genetic diseases and subsequent medical records reviews within two French neuropediatric and epilepsy centers. Demographic, clinical, longitudinal, and diagnostic and surgical procedures data were collected.
Forty-six percent of the children were initially drug-resistant and 19% underwent resective surgery, most often before the age of four. Stereotactic electroencephalography was performed prior to surgery in 44% of cases. Fifty-seven and 43% of patients remained seizure-free one and ten years after surgery, respectively. In addition, 52% of initially drug-resistant patients who did not undergo surgery were seizure-free at the last follow-up. The number of anti-seizure medications required decreased in 50% of cases after surgery. Infantile spasms, intellectual disability, autism spectrum disorder or severe behavioral disorders were not contraindications to surgery but were associated with a higher rate of complications and a lower rate of seizure freedom after surgery.
Despite the assumption of complex multifocal epilepsy and practical difficulties in young children with tuberous sclerosis complex, successful surgery results are comparable with other populations of patients with drug-resistant epilepsy, and a spontaneous evolution to drug-sensitive epilepsy may occur in non-operated patients.
先前的研究表明，在仔细选择的伴有结节性硬化症的癫痫儿童中，癫痫手术是有效的。然而，这种选择是如何进行的，以及被带到手术中的患者的特征仍描述得很差。通过进行一项涵盖过去二十年实践的多中心回顾性队列研究，我们描述了伴有结节性硬化症的癫痫儿童接受癫痫手术的途径。
我们通过匹配两个法国神经儿科和癫痫中心的遗传疾病综合登记处和随后的病历复查，确定了 84 名患有结节性硬化症和癫痫的儿童。收集了人口统计学、临床、纵向、诊断和手术程序的数据。
46%的儿童最初是药物难治性的，19%的儿童接受了切除术，大多数在四岁之前。44%的病例在手术前进行了立体定向脑电图检查。分别有 57%和 43%的患者在手术后一年和十年后无癫痫发作。此外，52%的最初未接受手术的药物难治性患者在最后一次随访时无癫痫发作。手术后，50%的病例所需的抗癫痫药物数量减少。婴儿痉挛症、智力残疾、自闭症谱系障碍或严重行为障碍不是手术的禁忌症，但与手术后癫痫发作无自由率较高和并发症发生率较高相关。
尽管伴有结节性硬化症的婴幼儿存在复杂的多灶性癫痫的假设和实际困难，但手术的成功结果与其他耐药性癫痫患者群体相当，非手术患者可能会自发向药物敏感性癫痫转变。
