Congenital duodenal stenosis and annular pancreas: a delayed diagnosis in an adolescent patient with Down syndrome

Abstract

Down syndrome (DS) is recognised as one of the most common predisposing conditions for congenital heart and gut disease. Gastrointestinal abnormalities are frequent, the most common being duodenal stenosis, pyloric stenosis, gastroesophageal reflux, annular pancreas, imperforate anus and Hirschsprung’s disease [2, 3]. Because of the early appearance of signs and symptoms, the diagnosis of gastrointestinal defect is often made precociously [4]. A few cases of delayed diagnosis in late childhood have been described [5]. We present the case of a 15-year-old girl with DS, referred to the Department of Pediatrics, University of Chieti, Italy, because of intermittent, recurrent postprandial right upper abdominal pains, sometimes associated with abdominal distension and vomiting. Symptoms have begun over the last year, but never occurred previously. Laboratory investigation did not show abnormalities, except increased values of amylases and lipases, normalised in a second evaluation. Abdominal X-ray showed a prominent gastric bubble; a dilated duodenum was also present, suggesting obstruction. Upper gastrointestinal barium was then performed, showing overextension of the bulb and the second duodenal portion with minimum passage of contrast in the third duodenal portion (Fig. 1). Upper endoscopy showed marked dilatation of the duodenal bulb, with complete disappearance of the mucosal duodenal sketch; the presence of retained foreign material in the second duodenal portion made the stenotic region evaluation very difficult. Abdominal study with computed tomography showed gastrectasy with overextension of the bulb and the second duodenal Eur J Pediatr (2007) 166:379–380 DOI 10.1007/s00431-006-0241-x