Choledochal cyst, polysplenia and situs ambiguous: A rare and new association

Abstract

Abstract Introduction Situs ambiguous (SA) is a rare clinical entity that includes a spectrum of abnormalities in which organs and vessels are opposed to their normal arrangement. SA is frequently associated with other malformations such as splenic alterations, biliary atresia and vascular abnormalities. We report two cases of patients with SA, polysplenia and choledochal cyst. This association has never been described to date. Case reports Two patients, both males, came to our attention at the ages of 7 and 8 months after ultrasound identification of choledochal cysts. One patient, who had a prenatal suspicion of situs ambiguous and dextrocardia, presented with failure to thrive and increased hepatic enzymes. The other patient was asymptomatic, but prenatal evaluation showed gastric malposition. Post-natal laboratory tests were normal. Preoperative radiological diagnostic work-up showed polysplenia, intestinal anomaly of rotation and fixation, pre-duodenal portal vein in one baby. Both patients underwent surgical correction by cyst excision and Roux-en-Y hepaticojejunostomy. Follow-up (3 months and 3.5 years respectively) was uneventful. Biochemical hepatic parameters normalized soon after surgery. Discussion Situs anomalies in children are often associated with other malformations. The most common are splenic and cardiac defects but intestinal malformations and hepatico-biliary abnormalities have been reported too. Above all, the BASM (biliary atresia splenic malformation) syndrome has been extensively examined, obtaining important information on the etiology of the cystic form of biliary atresia. Conclusions A careful evaluation of patients with situs ambiguous is important to exclude associated anomalies and to plan the most appropriate surgical approach. The association with choledochal cyst should be taken into account.