Sasaki Michiru, Okanishi Tohru, Matsuoka Tsuyoshi, Yoshimura Ayumi, Maruyama Shinsuke, Shiohama Tadashi, Hoshino Hiroki, Mori Tatsuo, Majima Hisakazu, Matsumoto Hiroshi, Kobayashi Satoru, Chiyonobu Tomohiro, Matsushige Takeshi, Nakamura Kazuyuki, Kubota Kazuo, Tanaka Ryuta, Fujita Takako, Enoki Hideo, Suzuki Yasuhiro, Nakamura Sadao, Fujimoto Ayataka, Maegaki Yoshihiro
Course of Medicine for Children with Disabilities, Faculty of Medicine and Graduate School of Medical Sciences, Tottori University, Yonago, Japan.
Faculty of Medicine, Division of Child Neurology, Institute of Neurological Science, Tottori University, Yonago, Japan.
Pediatr Neurol. 2024 Aug;157:29-38. doi: 10.1016/j.pediatrneurol.2024.05.007. Epub 2024 May 15.
Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS).
We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events.
The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs.
ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.
6%的 Leigh 综合征（LS）患者表现为婴儿痉挛症综合征（IESS）。然而，LS 合并 IESS 的治疗策略仍不明确。本回顾性研究旨在评估 LS 和 Leigh 样综合征（LLS）合并 IESS 患者治疗策略的疗效和安全性。
我们向日本的 750 家医疗机构发放了问卷，并收集了 15 家医院 21 例患者的临床数据。数据包括治疗策略，如促肾上腺皮质激素（ACTH）治疗、生酮饮食（KD）治疗和抗癫痫药物（ASMs）；每种治疗的有效性；以及不良事件。
LS 和 LLS 诊断时的中位年龄为 7 个月（范围：0 至 50 个月），而癫痫发作的中位年龄为 7 个月（范围：3 至 20 个月）。17 例患者被诊断为 LS，4 例患者被诊断为 LLS。分别有 7 例、2 例、5 例和 7 例患者接受了 ACTH + ASMs、ACTH + KD + ASMs、KD + ASMs 和仅 ASMs 治疗。接受 ACTH 治疗的 9 例患者中有 4 例（44%）在治疗 1 个月内实现了电临床缓解，接受 KD 治疗的 7 例患者中有 1 例（14%）实现了电临床缓解。仅接受 ASMs 治疗的患者中没有实现电临床缓解的。7 例患者（33%）在最后一次随访时实现了电临床缓解。接受 ACTH 治疗的 4 例患者、接受 KD 治疗的患者中无 1 例、接受 ASMs 治疗的 8 例患者报告了不良事件。
ACTH 治疗在 LS 和 LLS 合并 IESS 的患者中显示出最佳疗效和快速起效。本研究中生酮饮食治疗和抗癫痫药物的有效性不足。
