Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome

作者：Linghui Zhu, Yuan Xia, Hao Ding, Tong Zhang, Jun Li, Baomin Li · 发表于：Frontiers in Pediatrics · 年份：2025 · DOI：10.3389/fped.2024.1522079 · 被引用次数：4 · 研究领域：Epilepsy research and treatment、Pharmacological Effects and Toxicity Studies、Neurological disorders and treatments

Introduction Infantile Epileptic Spasms Syndrome (IESS) typically has a profound impact on the neurodevelopment of patients. The study on IESS indicates possible geographical variation in etiology and a lack of data from China. Our study intends to summarize the etiology of IESS and analyze its characteristics. Methods A retrospective analysis was performed to gather clinical data from patients diagnosed with IESS at the Department of Neurology of Qilu Hospital of Shandong University and the Children's Hospital Affiliated to Shandong University between June 2017 to May 2024. Results A total of 361 patients with IESS were included, comprising 115 structural cases (31.9%), 37 genetic cases (10.2%), 32 genetic-structural cases (8.9%), 9 metabolic cases (2.5%), 3 infectious cases (0.8%), and 165 cases with unknown etiology (45.7%). No immunological cause was determined. The primary cause of the condition was linked to hypoxic-ischemic encephalopathy (HIE), with structural brain abnormalities following closely. The predominant pathogenic genes identified were TSC2, NF1, SCN8A , and KCNQ2 . Male gender, preterm infants, low birth weight infants, and developmental regression in patients were associated with a higher likelihood of structural etiology. Patients exhibiting developmental regression before the commencement demonstrated inferior outcomes. Patients administered adrenocorticotropic hormone (ACTH) exhibited a higher likelihood of attaining seizure control, and those who resp...