脑室镜第三脑室底造瘘治疗甲基丙二酸血症继发脑积水  

Treatment of hydrocephalus due to methylmalonic aciduria with endoscopic third ventriculostomy

作　　者：谢仕刚 商晓红 刘渤[1] 王广宇[1] Xie Shigang;Shang Xiaohong;Liu Bo;Wang Guangyu(Department of Neurosurgery,Affiliated Children's Hospital,Shandong University,Jinan 250022,China;Department of Pediatrics,Affiliated Shandong Provincial Hospital,Shandong First Medical University,Jinan 250021,China)

机构地区：[1]山东大学附属儿童医院神经外科,济南250022 [2]山东第一医科大学附属省立医院儿科,济南250021

出　　处：《中华小儿外科杂志》2024年第7期601-605,共5页Chinese Journal of Pediatric Surgery

摘　　要：目的总结脑室镜下第三脑室底造瘘手术治疗甲基丙二酸血症(methylmalonic acidemia,MMA)继发脑积水的临床经验,探讨其临床应用价值。方法回顾性分析2017年6月至2021年6月山东大学附属儿童医院神经外科采用脑室镜第三脑室底造瘘手术治疗的7例合并同型半胱氨酸增高的MMA继发脑积水患儿,其中男4例,女3例;手术时中位年龄为9个月,范围在6个月至1岁。患儿行外周血基因分析明确诊断,术后长期药物治疗基础代谢性疾病,患儿于术后1、3、6、12个月门诊复查,行外周血同型半胱氨酸测定、行颅脑CT或磁共振成像检查,使用Gesell发育量表随诊智力发育。结果7例患儿手术均顺利完成,无围手术期死亡患儿,其中1例患儿术后6 d开始出现明显颅内压增高表现,再次行脑室腹腔分流手术,其余6例经过药物及手术治疗后既往症状消失。患儿术后均长期随访,平均随访时间为2.7年,范围在1~5年,随访期间患儿无中枢神经系统感染、无颅内血肿、无神经源性肺水肿发生。7例患儿室旁水肿消失,4例患儿脑室较术前减小。患儿经手术、药物及康复训练综合治疗手段,发育商较术前平均改善12分,范围在8~16分。结论对于高同型半胱氨酸血症合并MMA继发脑积水的患儿,临床应积极进行术前筛查,当发现第三脑室底凹陷明显符合手术指征时,及时行脑室镜下第三脑室底造瘘手术治疗患儿有效,且能避免终身分流产生并发症的风险。Objective To summarize the clinical experiences of applying endoscopic third ventriculostomy(ETV)for hydrocephalus secondary to methylmalonic academia(MMA)and to explore its clinical value.Methods Retrospective analysis was conducted for 7 MMA children of secondary hydrocephalus due to hyperhomocysteinemia undergoing ETV from June 2017 to June 2021.There were 4 boys and 3 girls with a median operative age of 9(6-12)months.A definite diagnosis was confirmed by peripheral blood gene analysis.After surgery,long-term medication was prescribed for metabolic diseases.Outpatient follow-ups were conducted at Month 1/3/6/12 postoperatively.Peripheral blood homocysteine was measured,cranial computed tomography(CT)or magnetic resonance imaging(MRI)performed and Gesell development scale utilized for monitoring intellectual development.Results All operations were successfully completed without any perioperative mortality.One child of marked intracranial hypertension at Day 6 post-operation required ventriculoperitoneal re-shunt.Initial symptoms of the remainders disappeared after medication and surgery.During a median follow-up period of 2.7(1-5)year,none of them developed central nervous system infection,intracranial hematoma or neurogenic pulmonary edema.Periventricular edema disappeared and ventricles shrunk as compared preoperatively(n=4).Through comprehensive treatments of surgery,medication and rehabilitation training,developmental quotient improved by an average of 12(8-16)points as compared preoperatively.Conclusions ETV is efficacious for children passing preoperative screening and fulfilling surgical indications.And it may prevent some postoperative complications related to long-term tubing.

关 键 词：脑积水 甲基丙二酸血症 高同型半胱氨酸血症 第三脑室 

分 类 号：R725.8[医药卫生—儿科]