Abstract：
BACKGROUND: 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).
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：6%的Leigh综合征（LS）患者出现婴儿癫痫性痉挛综合征（IESS）。然而,IESS与LS的治疗策略尚不清楚。这项回顾性研究旨在评估IESS并发LS和Leigh样综合征（LLS）患者治疗策略的有效性和安全性。
方法：我们向日本的750家机构分发了问卷，收集15家医院21例患者的临床资料。数据包括治疗策略，包括促肾上腺皮质激素（ACTH）治疗，生酮饮食（KD）治疗，和抗癫痫药物（ASM）；每种治疗的有效性；以及不良事件。
结果：诊断为LS和LLS的中位年龄为7个月（范围：0至50），而癫痫性痉挛发作时为7（范围：3至20）。17例患者诊断为LS，4例患者诊断为LLS。七,两个,五,七名患者接受了ACTH+ASM，ACTH+KD+ASM,KD+ASM,只有ASM，分别。接受ACTH治疗的9例患者中有4例（44％），接受KD治疗的7例患者中有1例（14％）在治疗后一个月内实现了电临床缓解。仅接受ASM治疗的患者均未达到临床电缓解。在最后一次随访中，有7例患者（33％）实现了临床电缓解。4例接受ACTH治疗的患者报告了不良事件，没有人接受过KD治疗，
结论：ACTH疗法在IESS合并LS和LLS的患者中显示出最佳疗效和快速作用。在这项研究中，KD治疗和ASM的有效性不足。
方法：我们向日本的750家机构分发了问卷，收集15家医院21例患者的临床资料。数据包括治疗策略，包括促肾上腺皮质激素（ACTH）治疗，生酮饮食（KD）治疗，和抗癫痫药物（ASM）；每种治疗的有效性；以及不良事件。
结果：诊断为LS和LLS的中位年龄为7个月（范围：0至50），而癫痫性痉挛发作时为7（范围：3至20）。17例患者诊断为LS，4例患者诊断为LLS。七,两个,五,七名患者接受了ACTH+ASM，ACTH+KD+ASM,KD+ASM,只有ASM，分别。接受ACTH治疗的9例患者中有4例（44％），接受KD治疗的7例患者中有1例（14％）在治疗后一个月内实现了电临床缓解。仅接受ASM治疗的患者均未达到临床电缓解。在最后一次随访中，有7例患者（33％）实现了临床电缓解。4例接受ACTH治疗的患者报告了不良事件，没有人接受过KD治疗，
结论：ACTH疗法在IESS合并LS和LLS的患者中显示出最佳疗效和快速作用。在这项研究中，KD治疗和ASM的有效性不足。
