Abstract：
Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy. Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30-57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.
摘要：
Sturge-Weber综合征（SWS）中的癫痫很常见，但是SWS中的药物难治性癫痫（DRE）很少在儿童中进行研究。我们调查了SWS患儿的癫痫特征和DRE的危险因素。回顾性分析2013年1月至2022年10月在我院就诊的SWS合并癫痫患儿的临床特点。采用单因素和多因素Logistic分析探讨SWS患儿DRE的影响因素。共纳入35例SWS癫痫患儿（51%为男性；平均年龄3.6±0.5岁），71％的SWS儿童在出生后的第一年内首次癫痫发作，最常见的癫痫发作类型是局灶性癫痫发作(77%).11例（31%）患者发生DRE。首次癫痫发作的中位发病年龄为1.0岁，所有这些病例均为SWSI型。多因素逻辑分析显示，中风样发作和癫痫群是SWS儿童DRE的危险因素。在25名SWS儿童中观察到神经功能不良组。癫痫持续状态是影响SWS癫痫患儿神经功能的危险因素。结论：本研究探讨了SWS患儿的癫痫特征。结果显示，中风样发作和癫痫发作群是SWS儿童DRE的危险因素。癫痫持续状态的发生会影响SWS癫痫患儿的神经功能。因此，长期随访对于监测结果是必要的.已知：•Sturge-Weber综合征（SWS）是一种罕见的神经皮肤疾病，超过75%的SWS儿童经历癫痫发作，30-57％的人发展为药物难治性癫痫（DRE），这导致了糟糕的结果。•SWS中的药物难治性癫痫很少在儿童中进行研究，与DRE相关的危险因素尚不清楚。新增内容：•患有药物难治性癫痫的SWS儿童的临床特征。•在SWS中，中风样发作和癫痫发作群是DRE的危险因素，癫痫持续状态的发生会影响神经功能。
