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.
Objective 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 gradeⅠ).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.
作者
赵凤毛
葛明
冀园琦
孙骇浪
张楠
曾津津
Zhao Fengmao;Ge Ming;Ji Yuanqi;Sun Hailang;Zhang Nan;Zeng Jinjin(Department of Neurosurgery,Beijing Children′s Hospital Affiliated to Capital Medical University,National Children′s Medical Center,Beijing 100045,China)
出处
《中华神经外科杂志》
CSCD
北大核心
2020年第5期470-475,共6页
Chinese Journal of Neurosurgery
