摘要目的:探讨儿童结节性硬化症(TSC)合并室管膜下结节(SEN)或室管膜下巨细胞星形细胞瘤(SEGA)的治疗方案和预后。方法:采用病例系列回顾性研究方法分析2010年4月至2019年3月首都医科大学附属北京儿童医院神经外科收治的12例TSC合并SEN或SEGA患儿的临床资料。所有患儿的影像学均表现为孟氏孔附近的占位性病变特征。12例患儿中，6例考虑为SEN，未行治疗或行药物治疗；6例患儿考虑为SEGA，除1例放弃治疗外，另5例均予肿瘤切除，其中4例采用经额叶皮质造瘘入路，1例采用经胼胝体－穹窿间入路。6例患儿应用哺乳动物雷帕霉素靶蛋白抑制剂西罗莫司治疗。通过临床随访和影像学随访评估患儿的预后。结果:5例行手术治疗的患儿均达到肿瘤全切除，病理学结果提示均为SEGA(世界卫生组织分级为Ⅰ级)。1例患儿术后发生脑积水，予脑室－腹腔分流术。12例患儿的随访时间为0.5～9.0年。5例患儿术后均无神经功能障碍，至末次随访无复发。6例SEN患儿行影像学复查提示SEN未见增大。6例应用西罗莫司的患儿癫痫发作次数均减少了50%以上。结论:儿童TSC合并SEN或SEGA临床鲜见，针对个体情况制定诊疗计划，可获得较好的临床结局，但患儿的远期预后情况仍需随访。

abstractsObjective:To explore the treatment regimen and outcome of tuberous sclerosis complex (TSC) with subependymal nodule (SEN)/subependymal giant cell astrocytoma (SEGA).Methods:The clinical data of 12 children with TSC with SEN/SEGA admitted to Department of Neurosurgery, Beijing Children′s Hospital Affiliated to Capital Medical University from April 2010 to March 2019 were retrospectively analyzed in this case-series study. The imaging findings in 12 cases showed typical space-occupying lesions in the vicinity of the foramen mencius. Among them, 6 cases that were considered as SEN underwent no surgical treatment, and out of the other 6 cases considered as SEGA, 5 cases underwent tumor resection (through the approach of frontal cortex fistula in 4 and the transcallosal interforniceal approach in 1) and 1 case refused treatment. The mammalian target of rapamycin (mTOR) inhibitor sirolimus was used in 6 cases. The outcomes of those children were evaluated by outpatient clinical and imaging follow-up.Results:All 5 children undergoing surgery achieved total resection of the tumor and pathological results indicated SEGA (World Health Organization grade Ⅰ). One case developed hydrocephalus after surgery and then underwent ventriculoperitoneal shunting. The follow-up period of 12 children was 0.5-9.0 years. None of the 5 patients had neurological dysfunction or recurrence at the latest follow-up. Imaging examination of 6 children with SEN showed no enlargement of SEN. The frequency of seizures was reduced by more than 50% in all 6 children treated with sirolimus.Conclusions:Children with TSC combined with SEN/SEGA are rare. Individualized diagnosis and treatment plan could lead to relatively good clinical outcomes, while further follow-up is still needed for the study of the children’s long-term outcome.