A case of Apert syndrome with esophageal and multiple jejunal atresia

Abstract

 Apert syndrome is one of craniosynostosis with syndactyly and various complications. But gastrointestinal complications are rare. Here we present a case of Apert syndrome with esophageal and multiple jejunal atresia. In this case, Apert syndrome was suspected because of fetal brachycephaly, long biparietal diameter and exophthalmos and syndactyly of hands and feet. There was lack of stomach bubble accompanied by intestinal dilatation and maternal polyhydramnios, so we considered the possibility of esophageal and intestinal atresia. The baby was born by caesarean section at 37 weeks 5 days gestation, bile-like bronchial secretions were observed in trying to intubate. After we diagnosed esophageal atresia and small intestinal atresia by the radiography, esophageal banding, gastrostomy and jejunostomy were performed on the day of birth. We finally diagnosed multiple jejunal atresia. Only one case of small intestinal atresia in Apert syndrome has been reported, and multiple small intestinal atresia has not been reported. When diagnosing Apert syndrome, gastrointestinal tract disorder should be considered. In this report, we present this case focusing on the pathogenesis of gastrointestinal tract disorder.