【摘要】 目的 分析无面部血管瘤的Sturge-Weber综合征（SWS）的临床特点。 方法 2008年10月收治1例女性患儿，8岁，因发作性四肢强直入院，患儿无面部血管瘤及眼部异常，仅表现为癫痫。患儿接受丙戊酸钠抗癫痫治疗。 结果 患儿经头部CT、MRI确诊为无面部血管瘤的SWS。抗癫痫治疗后随访12个月，未再发癫痫，智力发育无减退，未出现瘫痪、蛛网膜下腔出血、脑出血、脑卒中样发作等。 结论 无面部血管瘤的SWS确诊依靠头部CT及MRI，治疗方法为药物抗癫痫治疗。复习文献得出无面部血管瘤的SWS患者临床表现不同于有面部血管瘤者，多仅表现出癫痫发作，且药物治疗有效，无需手术切除病灶，预后较好。【Abstract】 Objective To analyze the clinical features of Sturge-Weber syndrome without facial hemangioma. Methods One eight-year-old girl was admitted to the hospital for tonic seizure in October 2008. The physical examination results were normal with neither facial hemangioma nor ocular abnormalities. The only manifestation of the patient was epilepsy. The patient was treated with sodium valproate. Results According to cranial CT and MRI results, the patient was considered to have Sturge-Weber syndrome without facial hemangioma. The patient was treated with anticonvulsant drugs and experienced no recurrence of the seizures or any manifestations of mental retardation, hemiplegia, subarachnoid hemorrhage, cerebral hemorrhage, stroke-like episodes or migraine during the following 12 months of follow-up. Conclusion In the absence of facial hemangioma, the diagnosis can be based on cranial CT and MRI. Sturge-Weber syndrome patients without facial hemangioma are helped by anticonvulsant drugs. According to this case and the reports of literature, most patients without facial hemangioma only manifest epilepsy which can be treated effectively with antiepileptic drugs and such patients have a good prognosis without operation, which is different from those with facial hemangioma.
Objective To investigate the clinicalmanifestations, electroencephalogram (EEG) characteristics, surgical treatment and prognosis of epilepsy secondary to Sturge-Weber syndrome (SWS) in children.Methods The data of 7 children with epilepsysecondaryto Sturge-Weber syndrome who were treated by surgery from May 2015 to May 2020 in our Children's Epilepsy Center were retrospectively reviewed. Their demographic characteristics, seizure forms, results of EEG and cranial imaging investigations, surgical methods, postoperative pathological reports and prognosis during follow-upwere summarized and analyzed. The prognosis were evaluated byEngel classificationat the last time point during follow-up. Results Totally 7 pediatric patients were enrolled, including 1 male (16/25, 64.0%) and 6 females.All the 7 cases presented with focal seizures at the onset among whom 2 cases developed status epilepticus during the course of the disease(epilepsiapartialiscontinuain 1 case),one case had epileptic spasmsand 1 case was characterized by cluster seizures. The interictal EEG manifestations of the cases gradually deteriorated as the course of the disease prolonged, including the slow wave on the affected side gradually increases (7/7), the amplitude gradually decreases (7/7), and the physiological wave disappears (4/7). Besides, no epileptiform discharges/incidental or a few epileptiform dischargeswere found in their interictal EEGs. Four cases underwent hemispherotomy, 1 case underwent temporo-parieto-occipital disconnection and 2 cases underwent lesion resection. The cases were followed up for 6 months to 5 years, and the average follow-up duration was 79.29 months. Six cases were rated as Engel Ⅰa during the regularfollow-up. Only 1 case was rated asEngel Ⅱ and Engel Ⅲ at 3 month and 1 year after the operation. ConclusionChildren with epilepsy secondary to SWS usually present with focal seizures and have diverse seizure forms. The EEG show characteristic changes. For the caseswith drug refractory epilepsy, detailed preoperative evaluation and reasonable surgical methods can result in a better therapeutic effect.