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

Adrenocorticotropic hormone Infantile epileptic spasms syndrome Ketogenic diet Leigh syndrome Treatment

Journal

Pediatric neurology
ISSN: 1873-5150
Titre abrégé: Pediatr Neurol
Pays: United States
ID NLM: 8508183

Informations de publication

Date de publication:
15 May 2024
Historique:
received: 27 12 2023
revised: 15 04 2024
accepted: 09 05 2024
medline: 7 6 2024
pubmed: 7 6 2024
entrez: 7 6 2024
Statut: aheadofprint

Résumé

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.

Sections du résumé

BACKGROUND 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 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 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 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.

Identifiants

DOI: 10.1016/j.pediatrneurol.2024.05.007 PMID: 38848614
pubmed: 38848614
pii: S0887-8994(24)00198-X
doi: 10.1016/j.pediatrneurol.2024.05.007
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

29-38

Informations de copyright

Copyright © 2024 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Tohru Okanishi reports financial support was provided by Japan Society for the Promotion of Science. Hiroshi Matsumoto reports financial support was provided by Japan Society for the Promotion of Science. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Michiru Sasaki (M)

Course of Medicine for Children with Disabilities, Faculty of Medicine and Graduate School of Medical Sciences, Tottori University, Yonago, Japan.

Tohru Okanishi (T)

Faculty of Medicine, Division of Child Neurology, Institute of Neurological Science, Tottori University, Yonago, Japan. Electronic address: t.okanishi@tottori-u.ac.jp.

Tsuyoshi Matsuoka (T)

Division of Child Neurology and Child Psychiatry, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center and Children's Medical Center, Haebaru, Japan.

Ayumi Yoshimura (A)

Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, Japan.

Shinsuke Maruyama (S)

Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.

Tadashi Shiohama (T)

Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.

Hiroki Hoshino (H)

Department of Pediatrics, Toho University Medical Center Sakura Hospital, Chiba, Japan.

Tatsuo Mori (T)

Department of Pediatrics, Graduate School of Medical Sciences, Tokushima University, Tokushima, Japan.

Hisakazu Majima (H)

Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan.

Hiroshi Matsumoto (H)

Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.

Satoru Kobayashi (S)

Department of Pediatrics, Nagoya City University West Medical Center, Nagoya, Japan.

Tomohiro Chiyonobu (T)

Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Takeshi Matsushige (T)

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan.

Kazuyuki Nakamura (K)

Department of Pediatrics, Yamagata University Hospital, Yamagata, Japan.

Kazuo Kubota (K)

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.

Ryuta Tanaka (R)

Department of Pediatrics, Ibaraki Children's Hospital, Mito, Japan.

Takako Fujita (T)

Faculty of Medicine, Department of Pediatrics, Fukuoka University, Fukuoka, Japan.

Hideo Enoki (H)

Department of Pediatrics, Kawasaki Medical School, Kurashiki, Japan.

Yasuhiro Suzuki (Y)

Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.

Sadao Nakamura (S)

Department of Pediatrics, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.

Ayataka Fujimoto (A)

Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Yoshihiro Maegaki (Y)

Faculty of Medicine, Division of Child Neurology, Institute of Neurological Science, Tottori University, Yonago, Japan.

Classifications MeSH