Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2024-05-15 DOI:10.1016/j.pediatrneurol.2024.05.007

Michiru Sasaki MD , Tohru Okanishi PhD, MD , Tsuyoshi Matsuoka MD , Ayumi Yoshimura MD , Shinsuke Maruyama PhD, MD , Tadashi Shiohama PhD, MD , Hiroki Hoshino MD , Tatsuo Mori PhD, MD , Hisakazu Majima MD , Hiroshi Matsumoto PhD, MD , Satoru Kobayashi PhD, MD , Tomohiro Chiyonobu PhD, MD , Takeshi Matsushige PhD, MD , Kazuyuki Nakamura PhD, MD , Kazuo Kubota PhD, MD , Ryuta Tanaka MD , Takako Fujita PhD, MD , Hideo Enoki PhD, MD , Yasuhiro Suzuki PhD, MD , Sadao Nakamura MD , Yoshihiro Maegaki PhD, MD

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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.

Conclusion

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.

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婴儿癫痫痉挛综合征并发莱氏综合征和莱氏样综合征：全国多中心病例回顾性系列研究

背景6%的莱氏综合征（LS）患者伴有婴儿癫痫性痉挛综合征（IESS）。然而，IESS合并LS的治疗策略仍不明确。这项回顾性研究旨在评估 IESS 并发 LS 和莱氏综合征（LLS）患者的治疗策略的有效性和安全性。方法我们向日本 750 家医院发放了调查问卷，并收集了 15 家医院 21 名患者的临床数据。数据包括治疗策略，包括促肾上腺皮质激素（ACTH）疗法、生酮饮食（KD）疗法和抗癫痫药物（ASM）；每种疗法的有效性；以及不良反应。17 名患者确诊为 LS，4 名患者确诊为 LLS。七名、两名、五名和七名患者分别接受了 ACTH + ASMs、ACTH + KD + ASMs、KD + ASMs 和仅 ASMs 治疗。在接受促肾上腺皮质激素治疗的九名患者中，有四名（44%）在治疗后一个月内实现了电临床缓解；在接受 KD 治疗的七名患者中，有一名（14%）在治疗后一个月内实现了电临床缓解。仅接受 ASMs 治疗的患者中没有人获得临床电缓解。七名患者（33%）在最后一次随访时实现了临床电学缓解。4名接受ACTH治疗的患者出现了不良反应，没有接受KD治疗的患者出现不良反应，8名接受ASM治疗的患者出现不良反应。在这项研究中，KD疗法和ASM的疗效并不充分。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.