Abstract：
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：先前的研究表明，在精心选择的与结节性硬化症相关的癫痫患儿中，癫痫手术的疗效。然而,这种选择是如何进行的，手术患者的特征描述仍然很差。通过开展涵盖过去二十年实践的多中心回顾性队列研究，我们描述了结节性硬化症相关癫痫患儿的癫痫手术路径.
方法：我们通过匹配两个详尽的遗传疾病记录和随后的两个法国神经儿科和癫痫中心的医疗记录，确定了84名诊断为结节性硬化症和癫痫的儿童。人口统计,临床,纵向,收集诊断和外科手术数据.
结果：46％的儿童最初是耐药的，19％的儿童接受了切除手术，通常在四岁之前。44％的病例在手术前进行了立体定向脑电图检查。57％和43％的患者在手术后一年和十年内保持无癫痫发作，分别。此外,最初未接受手术的耐药患者中有52％在最后一次随访中没有癫痫发作。手术后50％的病例所需的抗癫痫药物数量减少。婴儿痉挛,智力残疾,自闭症谱系障碍或严重行为障碍不是手术禁忌症,但与较高的并发症发生率和较低的术后癫痫发作发生率相关.
结论：尽管在患有结节性硬化症的幼儿中假设有复杂的多灶性癫痫和实际困难，成功的手术结果与其他耐药癫痫患者相当，非手术患者可能会自发演变为药物敏感性癫痫。
方法：我们通过匹配两个详尽的遗传疾病记录和随后的两个法国神经儿科和癫痫中心的医疗记录，确定了84名诊断为结节性硬化症和癫痫的儿童。人口统计,临床,纵向,收集诊断和外科手术数据.
结果：46％的儿童最初是耐药的，19％的儿童接受了切除手术，通常在四岁之前。44％的病例在手术前进行了立体定向脑电图检查。57％和43％的患者在手术后一年和十年内保持无癫痫发作，分别。此外,最初未接受手术的耐药患者中有52％在最后一次随访中没有癫痫发作。手术后50％的病例所需的抗癫痫药物数量减少。婴儿痉挛,智力残疾,自闭症谱系障碍或严重行为障碍不是手术禁忌症,但与较高的并发症发生率和较低的术后癫痫发作发生率相关.
结论：尽管在患有结节性硬化症的幼儿中假设有复杂的多灶性癫痫和实际困难，成功的手术结果与其他耐药癫痫患者相当，非手术患者可能会自发演变为药物敏感性癫痫。
