小儿Currarino综合征的诊治经验

The diagnosis and treatment of Currarino syndrome in children

目的总结小儿Currarino综合征的发病特点、诊断和手术方法。方法收集2008年1月至2020年6月首都医科大学附属北京儿童医院普外科收治的24例Currarino综合征患儿的相关资料。其中,男7例,女17例;年龄为(19.58±14.37)个月,年龄范围为2~47个月。患儿肛门直肠畸形包括直肠会阴瘘16例、肛门狭窄2例、直肠前庭瘘3例、肛门闭锁1例、直肠尿道球部瘘1例及一穴肛1例。14例患儿因排便困难就诊,45.8%(11/24)的患儿来本科就诊前存在诊治不当的情况。所有患儿均进行腰骶椎X线、骶尾部超声、骶尾部磁共振成像(magnetic resonance imaging,MRI)及下消化道造影检查。手术治疗采用经后矢状入路(经典后矢状入路8例、局限性后矢状入路13例)、肛门入路(1例)、前矢状入路(1例)和经骶后弧形切口切除臀部瘘管及包块(1例)。15例肠造瘘患儿术后3~6个月进行关瘘术。随访评估并记录每例患儿的排便和排尿功能,排便功能评估采用Rintala评分。结果2例患儿存在神经源性膀胱,5例患儿存在生殖系统畸形(双子宫1例,双角子宫1例,双阴道2例,双子宫合并双阴道1例)。下消化道造影检查提示7例患儿存在结肠扩张。术后骶前包块病理检查提示单纯成熟性畸胎瘤13例、骶前成熟畸胎瘤合并脊膜膨出7例、脂肪瘤4例。MRI检查结果提示7例患儿有前向的脊膜膨出(6例合并脊髓栓系综合征),另有9例患儿单纯存在脊髓栓系综合征。患儿术后并发症发生率为16.7%(4/24),其中2例为骶前肿物复发,2例未行肠造瘘患儿分别出现中枢神经系统感染和切口感染。患儿随访时间为(42.62±25.96)个月,随访时间范围为12~145个月;Rintala评分为(16.76±2.86)分,范围为12~20分。4例患儿术后便秘,8例患儿污便>1次/周,2例患儿存在尿潴留。结论Currarino综合征患儿的肛门直肠畸形多为低位无肛,以直肠会阴瘘多见。腰骶椎X线片、骶尾部超声及MRI检查可作为正确诊断的依据。手术入路推荐后矢状入路,必要时应进行肠造瘘术。

Objective To summarize the characteristics,diagnosis and surgical treatment of Currarino syndrome in children.Methods The relevant clinical data were retrospectively reviewed for 24 hospitalized Currarino syndrome children from January 2008 to June 2020.There were 7 boys and 17 girls with an average age of(19.58±14.37)(2 to 47)months.Anorectal malformations included rectoperineal fistula(n=16),anal stricture(n=2),rectovestibular fistula(n=3),anal atresia(n=1),rectourethral bulbar fistula(n=1)and cloaca(n=1).Fourteen children presented with difficult defecation and 45.8%(11/24)were improperly managed.They received lumbosacral spine radiography,sacrococcygeal ultrasound,sacrococcygeal magnetic resonance imaging(MRI)and lower gastrointestinal radiography.The surgical approaches were classical posterior sagittal(n=8),localized posterior sagittal(n=13),anal(n=1),anterior sagittal(n=1)and resection of buttock fistula and fistula through sacral arcuate incision(n=1).Fifteen children with enterostomy underwent closure at 3 to 6 months after-operation.Defecation and voiding function were followed up and defecation function was assessed by the Rintala score.Results There were neurogenic bladder(n=2)and reproductive system malformations(n=5).The malformations included didelphys uterus(n=1),bicornuate uterus(n=1),double vagina(n=2)and didelphys uterus with didelphys vagina(n=1).Lower gastrointestinal radiography revealed colonic dilatation(n=7).Postoperative pathological examinations revealed simple mature teratoma(n=13),presacral mature teratoma with meningocele(n=7)and lipoma(n=4).MRI hinted at forward meningocele(n=7)with concurrent tethered cord syndrome(n=6)and tethered cord syndrome(n=9).The incidence of postoperative complications was 16.7%(4/24),including recurrence of presacral mass(n=2)and central nervous system infection and incision infection without enterostomy(n=2).The average follow-up period was(42.62±25.96)(12 to 145)months.The average Rintala score was(16.76±2.86)(12 to 20)points.There were postoperative constipations(n=4),soiled stools>1 time/week(n=8)and urinary retention(n=2).Conclusions Anorectal malformation in Currarino syndrome children is low anorectal and rectoperineal fistula predominates.The relevant imaging examinations of lumbosacral radiography,sacrococcygeal ultrasonography and MRI are the prerequisites for making a correct diagnosis.Posterior sagittal approach is preferred while enterostomy is applied if necessary.