Late diagnosis of duodenal obstruction associated with down syndrome: Similar presentation of different pathologies

Abstract Down syndrome is the most common chromosomal abnormality and is associated with a high incidence of upper gastrointestinal anomalies. Although these anomalies are commonly identified antenatally or in the early prenatal period, delayed presentation is possible. Herein, we describe two patients with Down syndrome who presented with persistent vomiting associated to a partial duodenal obstruction. Both patients presented for evaluation after a prolonged period of vomiting and severe dehydration. In both cases, gastrointestinal reflux had been suspected, resulting in inappropriate treatment. We proceeded with upper gastrointestinal radiographic series and endoscopy in both cases, which revealed classic features of duodenal obstruction, including dilation of the stomach and first/second segments of the duodenum. Laparotomy was used to confirm the diagnosis in both cases. In case one, findings of massive dilation of the esophagus and the stomach were reflective of a long-standing obstruction. In the second case, examination revealed a duodenal bulb with an annular structure and no appreciable lumen. Both patients were treated via open laparotomy, with a corrective duodeno-duodenostomy procedure performed for the patient in case one with annular pancreas and enterotomy and transverse closure performed for the patient in case 2 with an external obstruction. Both patients recovered without complications, with complete resolution of symptoms. As delayed diagnosis is associated with significant morbidities and unneeded interventions, physicians treating children with Down syndrome should have a high index of suspicion of the possibility of late presenting duodenal obstruction.