Singh Avantika, Hadjinicolaou Aristides, Peters Jurriaan M, Salussolia Catherine L
Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Neuropsychiatr Dis Treat. 2023 Apr 5;19:733-748. doi: 10.2147/NDT.S347327. eCollection 2023.
Tuberous sclerosis complex (TSC) is a neurogenetic disorder that affects multiple organ systems, including the heart, kidneys, eyes, skin, and central nervous system. The neurologic manifestations have the highest morbidity and mortality, in particular in children. Clinically, patients with TSC often present with new-onset seizures within the first year of life. TSC-associated epilepsy is often difficult to treat and refractory to multiple antiseizure medications. Refractory TSC-associated epilepsy is associated with increased risk of neurodevelopmental comorbidities, including developmental delay, intellectual disability, autism spectrum disorder, and attention hyperactivity disorder. An increasing body of research suggests that early, effective treatment of TSC-associated epilepsy during critical neurodevelopmental periods can potentially improve cognitive outcomes. Therefore, it is important to treat TSC-associated epilepsy aggressively, whether it be with pharmacological therapy, surgical intervention, and/or neuromodulation. This review discusses current and future pharmacological treatments for TSC-associated epilepsy, as well as the importance of early surgical evaluation for refractory epilepsy in children with TSC and consideration of neuromodulatory interventions in young adults.
结节性硬化症(TSC)是一种神经遗传性疾病,会影响多个器官系统,包括心脏、肾脏、眼睛、皮肤和中枢神经系统。神经系统表现的发病率和死亡率最高,尤其是在儿童中。临床上,TSC患者常在生命的第一年内出现新发癫痫。TSC相关癫痫通常难以治疗,对多种抗癫痫药物均耐药。难治性TSC相关癫痫与神经发育共病风险增加有关,包括发育迟缓、智力残疾、自闭症谱系障碍和注意力缺陷多动障碍。越来越多的研究表明,在关键神经发育阶段对TSC相关癫痫进行早期、有效的治疗可能会改善认知结果。因此,积极治疗TSC相关癫痫很重要,无论是采用药物治疗、手术干预和/或神经调节。本综述讨论了TSC相关癫痫的当前和未来药物治疗,以及对TSC儿童难治性癫痫进行早期手术评估的重要性,以及对年轻成人进行神经调节干预的考虑。