Department of Burns and Plastic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China.
J Craniofac Surg. 2021;32(1):257-260. doi: 10.1097/SCS.0000000000007034.
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by port-wine stain, leptomeningeal angiomatosis, and glaucoma. Due to the involvement of the nervous system, patients are often accompanied with epilepsy. It reported that 75% of patients with SWS did not respond to standard antiepileptic drugs. Although hemispherectomy is effective in treating these patients, the application of it has been limited due to high risk and huge trauma. Recent studies have shown that sirolimus has a positive on complex vascular malformations and seizures, so the authors attempted to treat them by using sirolimus.
The authors retrospectively analyzed 6 patients with SWS who were refractory to antiepileptic drugs and accepted oral sirolimus in their department between 2017 and 2020.
All 6 patients were responsive to oral sirolimus treatment. Epilepsy was controlled in all patients, no epilepsy relapsed in 6 patients during the follow-up period. The facial port-wine stain of the patients were all lightened and the hypertrophy of pathological tissue was improved. Only minor adverse reactions occurred during the treatment.
Oral sirolimus could control the occurrence of epilepsy and improve the appearance, with minor and tolerable adverse reactions. Sirolimus is especially suitable for patients with severe epilepsy, failure, or contraindications of antiepileptic drugs; it could be an alternative method for patients who are unwilling to accept the risks of neurosurgery.
Sturge-Weber 综合征（SWS）是一种罕见的神经皮肤综合征，其特征为葡萄酒色斑、脑膜血管畸形和青光眼。由于神经系统受累，患者常伴有癫痫。据报道，75%的 SWS 患者对标准抗癫痫药物无反应。尽管大脑半球切除术治疗这些患者有效，但由于风险高和创伤大，其应用受到限制。最近的研究表明，西罗莫司对复杂血管畸形和癫痫发作有积极作用，因此作者尝试使用西罗莫司进行治疗。
作者回顾性分析了 2017 年至 2020 年期间在其科室接受口服西罗莫司治疗的 6 例对抗癫痫药物耐药的 SWS 患者。
所有 6 例患者均对口服西罗莫司治疗有反应。所有患者的癫痫均得到控制，6 例患者在随访期间均无癫痫复发。患者的面部葡萄酒色斑均变浅，病变组织的肥大得到改善。治疗过程中仅出现轻微不良反应。
口服西罗莫司可控制癫痫发作，改善外观，不良反应轻微且可耐受。西罗莫司特别适用于对癫痫药物治疗失败、不耐受或有禁忌证的严重癫痫患者；对于不愿接受神经外科手术风险的患者，西罗莫司可能是一种替代方法。
