Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome

IF 1.5 Q3 CLINICAL NEUROLOGY
Xiao-Lai Ye , Cui-Jing Wang , Min-Zhi Yin , Ru-En Yao , Ying Zhou , Fo-Yang Fan , Qin-Chuan Liang
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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.
病例报告:arid1b相关的Coffin-Siris综合征难治性癫痫的手术断开
Coffin-Siris综合征是一种罕见的多发性先天性异常综合征。我们报告一例医学难愈性癫痫,发生在患有arid1b相关的Coffin-Siris综合征的儿科患者,右额叶有厚回和多小回。术前评估后,手术断开致痫区。术后随访18个月,患儿癫痫发作完全自由,言语发育和运动强度均有改善。这扩大了与arid1b相关的Coffin-Siris综合征相关的表型,并强调了对dei进行早期基因检测的重要性,以及在适用的情况下对遗传性癫痫进行及时的手术评估和治疗。
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来源期刊
Epilepsy and Behavior Reports
Epilepsy and Behavior Reports Medicine-Neurology (clinical)
CiteScore
2.70
自引率
13.30%
发文量
54
审稿时长
50 days
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