难治性癫痫相关Sturge-Weber综合征7例临床及病理分析

Sturge-Weber syndrome in patients with intractable epilepsy:a clinicopathologic study of 7 cases

目的分析难治性癫痫相关脑面血管瘤病(SWS)患者的临床特征及手术后标本的病理学特点。方法回顾性分析接受脑病灶及致痫灶切除手术的7例SWS患者的临床及病理资料。7例患者中男4例,女3例,手术年龄2~20岁,发病年龄1~12个月。6例为多脑叶切除,1例为功能性大脑半球切除。结果脑标本病理可见软脑膜血管瘤病,脑组织中灰质钙化较弥漫、显著,脑实质内绝大多数小血管壁出现管壁全周的钙化,并伴发局灶性皮质发育不良(FCD)Ⅲc型。术后随访1~7年,EngelⅠ级3例,EngelⅡ级2例,EngelⅢ级1例,EngelⅣ级1例。结论 SWS患者发病早、病程长、病理改变有特征性,病变典型的患儿早期接受癫痫外科手术后效果良好,病变不典型的患者在成年后接受相同的手术也能达到良好的效果。

Objective To investigate the clinicopathologic features of the brain tissues from the patients with refractory epilepsy related Sturge-Weber syndrome （SWS）. Methods The clinical and pathologic data were reviewed in 7 SWS patients who underwent epilepsy operation. Seven patients including 4 males and 3 females had been diagnosed SWS. The age of patients for surgery was 2-20 years old. The age of patients when seizure onset was 1-12 months. Six cases accepted multilobar resettion, and 1 case accepted functional hemispherectomy. Results The pathological diagnoses were meningioangiomatosis, remarkable calcification in the brain, s gray matter and small blood vessels, focal cortical dysplasia （FCD） Ⅲ c. Seizure outcome after the epilepsy operation revealed 3 patients had an Engel grade Ⅰ, 2 patients had an Engel grade Ⅱ , 1 patient had an Engel grade Ⅲ, and 1 patient had an Engel grade IV. Conclusion SWS pa- tients had earlier onset, longer course and characteristic pathological change. Children with typical symptom should ac- cept operation as soon as possible. Atypical patients also had good prognosis after operation.