Omphalocele and biliary atresia: chance or causality. A case report

ABSTRACT To relate omphalocele and biliary atresia and investigate possible embryological correlations that justify the simultaneous occurrence. A female preterm newborn diagnosed as omphalocele; cesarean delivery, weight 2,500g, 46 XX karyotype. Initially, the newborn remained fasting and on parenteral nutrition, and enteral diet was introduced later, with good acceptance. On the 12th day of life, the newborn presented direct hyperbilirubinemia, increased levels of liver enzymes and fecal acholia, with a presumptive diagnosis of biliary atresia. However, the ultrasound was inconclusive, due to anatomical changes resulting from omphalocele. A surgical approach was chosen on the 37th day of life aiming to confirm diagnosis of biliary atresia and to repair omphalocele. During the surgical procedure, structural alterations compatible with biliary atresia were observed, later confirmed by pathological examination; a hepatoportoenterostomy was performed and the omphalocele was corrected. She evolved well in the postoperative period, with a decrease in direct bilirubin and liver enzymes, as well as resolution of fecal acholia, and was discharged in good clinical condition. This is a bizarre and extremely rare association, but the prognosis may be good when an early diagnosis is made and surgery performed, besides support and clinical management to prevent complications in the perioperative period. Although the pathogenesis of the diseases has not been fully defined yet, there is, to date, no direct relation between them. The association between omphalocele and biliary atresia is extremely uncommon, with only two published cases.

摘要 本研究旨在探讨脐膨出（omphalocele）与胆道闭锁（biliary atresia）的关联，并分析二者同时发生的潜在胚胎学机制。
本例为一名确诊脐膨出的女性早产新生儿，经剖宫产娩出，体重2500g，核型为46,XX。入院初期患儿禁食并行肠外营养支持，后续逐步引入肠内营养，耐受情况良好。出生后第12天，患儿出现直接高胆红素血症、肝酶水平升高及粪便胆汁缺乏，临床拟诊为胆道闭锁。但因脐膨出导致的解剖结构改变，超声检查结果无确诊意义。遂于出生后第37天实施手术，以期明确胆道闭锁诊断并修复脐膨出。术中观察到符合胆道闭锁的结构改变，后续经病理学检查确认；同期完成肝门空肠吻合术（hepatoportoenterostomy）及脐膨出修补术。术后患儿恢复良好，直接胆红素及肝酶水平下降，粪便胆汁缺乏症状缓解，临床状况稳定后准予出院。
该合并症极为罕见且表现特殊，但早期诊断并实施手术，辅以围手术期并发症预防的支持治疗与临床管理，预后可较为良好。尽管目前尚未完全明确这两种疾病的发病机制，但截至目前尚无二者存在直接关联的证据。脐膨出与胆道闭锁的合并病例极为罕见，目前仅见2例已发表的相关报道。