Samanta Debopam
Division of Child Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Epilepsy Behav. 2024 Dec;161:110123. doi: 10.1016/j.yebeh.2024.110123. Epub 2024 Nov 1.
Tuberous sclerosis Complex (TSC) is a genetic disorder characterized by multisystem involvement, with epilepsy affecting 80-90% of patients, often beginning in infancy. Early-life seizures in TSC are associated with poor neurodevelopmental outcomes, underscoring the importance of timely and effective management. This review explores the evolving treatment landscape for TSC-associated seizures in young children, focusing on three recently approved or license-expanded therapies: vigabatrin, everolimus, and cannabidiol. The efficacy and safety profiles of these treatments are examined based on clinical trials and real-world evidence, with a focus on their use in treating seizures in young children. The preemptive use of vigabatrin in clinical studies has also been carefully reviewed. A treatment algorithm is proposed, emphasizing early diagnosis, prompt initiation of appropriate therapy, and a stepwise approach to managing both infantile spasms and focal seizures. The algorithm incorporates these newer therapies alongside traditional antiseizure medications and non-pharmacological approaches. Challenges in optimizing treatment strategies, minimizing side effects, and improving long-term outcomes are discussed. This review aims to guide clinicians in navigating the complex landscape of early-life seizures associated with TSC, ultimately striving for improved seizure control and better developmental outcomes in this vulnerable population.
结节性硬化症（TSC）是一种遗传性疾病，其特征为多系统受累，80-90%的患者会出现癫痫，且通常始于婴儿期。TSC患者的早期癫痫发作与不良的神经发育结局相关，这凸显了及时有效治疗的重要性。本综述探讨了幼儿TSC相关癫痫的不断演变的治疗格局，重点关注三种最近获批或扩大适应症的疗法：氨己烯酸、依维莫司和大麻二酚。基于临床试验和真实世界证据，对这些治疗方法的疗效和安全性进行了研究，重点关注它们在治疗幼儿癫痫发作中的应用。还仔细审查了氨己烯酸在临床研究中的预防性使用。提出了一种治疗算法，强调早期诊断、及时开始适当治疗以及逐步管理婴儿痉挛和局灶性癫痫发作的方法。该算法将这些新疗法与传统抗癫痫药物和非药物方法相结合。讨论了优化治疗策略、最小化副作用和改善长期结局方面的挑战。本综述旨在指导临床医生应对与TSC相关的早期癫痫发作的复杂局面，最终努力改善这一脆弱人群的癫痫控制和发育结局。
