Currarino综合征合并先天性巨结肠病二例报道及文献复习

Currarino syndrome with Hirschsprungs disease in children： a report of 2 cases with a literature review

目的探讨儿童Currarino综合征合并先天性巨结肠病的诊断与治疗。方法回顾性分析2009年9月至2014年12月我科收治的2例Currarino综合征合并先天性巨结肠病患儿的临床资料。检索Pubmed、Springer Link、Google Scholar、中国生物医学文献数据库（CBM）、中国知网（CNKI）、万方和维普数据库，对2016年3月10日前报道的Currarino综合征合并先天性巨结肠病例进行文献复习。结果11岁女童生后发现低位肛门闭锁外院行肛门成形术，术后存在持续性便秘；3岁时经直肠壁组织学检查证实巨结肠病行根治术时发现骶前肿物一并切除；11岁时MRI检查示骶前肿物复发伴骶骨发育不全，明确Currarino综合征合并先天性巨结肠病诊断，复发骶前肿物再次切除。2个月大男童生后发现肛门狭窄，腰骶椎MRI示骶前畸胎瘤，伴骶骨发育不全。因持续腹胀，直肠壁活检证实合并先天性巨结肠，2．5个月时行骶前畸胎瘤，先天性巨结肠一期根治。通过文献检索，最终有16例纳入本次研究。其中，男5例，女9例，2例未描述；均有骶骨畸形，骶前肿物，包括脊膜膨出7例（其中合并畸胎瘤，表皮样囊肿各1例），畸胎瘤6例，皮样束肿、错构瘤、脂肪瘤各1例；6例有脊髓栓系，除未描述病例外其余8例均为短段型无神经细胞节症。结论Currarino综合征合并先天性巨结肠病十分罕见。术前充分认识能明确诊断，手术治疗后预后较好。

Objective To explore the diagnosis and treatment of Currarino syndrome （CS） with concurrent Hirschsprung＇s disease （HD） by introducing two rare cases and a literature review. Methods Between September 2009 and July 2014, clinical data were reviewed for two children of CS with concurrent HD. More clinical cases were retrieved from the databases of Pubmed, Springer Link, Google Scholar, CBM, CNKI,Wanfang and Weipu prior to March 2016. Results In the first case, low anal atresia was found after birth. After anoplasty, postoperative complication was persistent constipation. Then HD was confirmed by histological examination at 3 years post-operation. During Soave operation, sacral mass was resected. At age 11, magnetic resonance imaging （MRI） revealed a recurrence of sacral tumors with sacral dysplasia. In the second case, archostenosis, presacral teratoma and sacral dysplasia were confirmed by MRI after birth. HD was also confirmed by histological examination. Resection of sacral mass and radical macrosigmoid operation were performed. Through literature searches, 16 cases were included for this study. Among them, there were 5 males and 9 females. And 2 cases were unknown. All patients had sacral malformations and presacral tumors. There were meningocele （n = 7） （with concurrent teratoma ＆ epidermoid cyst,n = 1 each）, teratoma （n = 1）, dermoid cyst （n = 1） ,hamartoma （n = 1）, lipoma （n = 1） and tethered cord （n = 6）. Another 8 cases had short segment aganglionosis except for undescribed cases. Conclusions CS with concurrent lid is extremely rare in clinical practices. Relevant preoperative information is essential for making an accurate diagnosis of this syndrome. The prognosis is excellent after optimal treatment.