DOZ047.58: The familial occurrence of congenital esophageal atresia with or without a fistula is an extremely rare pathology
Abstract We report on two siblings (boy and girl), which were treated for congenital esophageal atresia with the fistula, at the Department of Pediatric Surgery and Urology in Wroclaw, at an interval of two years. These children have two healthy siblings. Both newborns were born on time (38 and 42 week of pregnancy). Prenatally hydramnios was observed in younger child. They were postnatally diagnosed with congenital esophageal atresia with a distal fistula. Newborns were operated on the second day of life. Bronchoscopy and right-sided thoracoscopy were performed. Both patients had a short-gap esophageal atresia with a distal fistula. The fistula was proximally closed with sutures and divided distally. Subsequently, the one-layered esophageal anastomosis was performed. There were no early postoperative complications. Both patients underwent two esophageal dilatations. Siblings are tolerating oral feeding. Occasionally, parents observe choking in the older child. Patients remain under the constant care of a pediatric surgery clinic. Moreover, children were evaluated by clinical geneticist and exome sequencing (WES) study on the base of DNA isolated from lymphocytes and esophageal tissues were performed in both siblings.