Montenegro Maria Augusta, Valente Kette D, Soldatelli Matheus Dorigatti, Sampaio Leticia Brito, Pinto Anna Leticia
Rady Children's Hospital University of California San Diego United States.
Faculty of Medicine of the University of São Paulo (FMUSP).
Epilepsy Behav. 2025 Apr;165:110312. doi: 10.1016/j.yebeh.2025.110312. Epub 2025 Feb 19.
Sturge-Weber Syndrome (SWS) is a neurovascular condition caused by a mutation in the GNAQ gene. The most common neurological manifestations of SWS are epilepsy, developmental delay, and stroke-like episodes. Seizures are often the first neurological symptom, and most patients have drug-resistant epilepsy. Predictors for unfavorable epilepsy outcomes and the need for ASM polytherapy included age of onset, bilateral brain involvement, extensive unilateral hemispheric disease, and a positive family history of epilepsy. The surgical approach to SWS is challenging due to the associated abnormal vasculature and potential complications. Hemispherotomy is associated with high seizure freedom rates and ASM discontinuation, but resective surgery may be an efficient alternative in well-selected patients. Complete seizure control is the ultimate goal of epilepsy surgery; however, reducing seizure severity and frequency may help improve cognitive outcome and quality of life.
斯特奇-韦伯综合征（SWS）是一种由GNAQ基因突变引起的神经血管疾病。SWS最常见的神经学表现为癫痫、发育迟缓以及类中风发作。癫痫发作通常是首个神经学症状，且大多数患者患有药物难治性癫痫。癫痫预后不良及需要联合使用抗癫痫药物治疗的预测因素包括发病年龄、双侧脑受累、广泛的单侧半球疾病以及癫痫家族史阳性。由于相关的血管异常和潜在并发症，SWS的手术治疗具有挑战性。大脑半球切除术与高癫痫缓解率及停用抗癫痫药物相关，但在精心挑选的患者中，切除性手术可能是一种有效的替代方法。完全控制癫痫发作是癫痫手术的最终目标；然而，降低癫痫发作的严重程度和频率可能有助于改善认知结果和生活质量。
