Xiao-Lai Ye , Cui-Jing Wang , Min-Zhi Yin , Ru-En Yao , Ying Zhou , Fo-Yang Fan , Qin-Chuan Liang
{"title":"Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome","authors":"Xiao-Lai Ye , Cui-Jing Wang , Min-Zhi Yin , Ru-En Yao , Ying Zhou , Fo-Yang Fan , Qin-Chuan Liang","doi":"10.1016/j.ebr.2025.100825","DOIUrl":null,"url":null,"abstract":"<div><div>Coffin–Siris syndrome is a rare multiple congenital anomaly syndrome. We report a case of medically refractory epilepsy developing in a pediatric patient with ARID1B-related Coffin–Siris syndrome, with pachygyria and polymicrogyria in right frontal lobe. Following presurgical evaluations, surgical disconnection of the epileptogenic zone was performed. Postoperative follow-up at 18 months demonstrated complete seizure freedom, with concomitant improvements in speech development and motor strength. This expands the phenotypes associated with ARID1B-related Coffin–Siris syndrome and underscores the importance of early genetic testing for DEEs, along with timely surgical evaluation and treatment for genetic epilepsies where applicable.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"32 ","pages":"Article 100825"},"PeriodicalIF":1.5000,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy and Behavior Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2589986425000851","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Coffin–Siris syndrome is a rare multiple congenital anomaly syndrome. We report a case of medically refractory epilepsy developing in a pediatric patient with ARID1B-related Coffin–Siris syndrome, with pachygyria and polymicrogyria in right frontal lobe. Following presurgical evaluations, surgical disconnection of the epileptogenic zone was performed. Postoperative follow-up at 18 months demonstrated complete seizure freedom, with concomitant improvements in speech development and motor strength. This expands the phenotypes associated with ARID1B-related Coffin–Siris syndrome and underscores the importance of early genetic testing for DEEs, along with timely surgical evaluation and treatment for genetic epilepsies where applicable.