Superior mesenteric artery syndrome associated with Trisomy 21, report of a case

Abstract

Down syndrome is a congenital genetic anomaly that can be associated with other alterations, such as superior mesenteric artery syndrome (Wilkie's syndrome), an uncommon cause of proximal intestinal obstruction. This article presents the case of a neonate with Trisomy 21 and superior mesenteric artery syndrome. It concerns a full-term newborn, underweight, with late-onset type I IUGR and a diagnosis of Trisomy 21, who presented intolerance to feeding with breast milk. A contrast study of the esophagus, stomach, and duodenum revealed gastric and duodenal dilation with scant passage of distal contrast. Surgical intervention was performed, confirming the diagnosis. Early diagnosis and appropriate intervention in patients with Wilkie's syndrome improve prognosis and quality of life, especially in patients with Down syndrome. This case is the first documented record in Ciego de Ávila to be successfully treated surgically.