Radiological Case Report: Duodenal Atresia in Down Syndrome

Down syndrome (DS) has a strong and well-established epidemiologic association with duodenal atresia, making it one of the classic congenital anomalies linked to chromosomal disorders.Duodenal atresia occurs in approximately one in 5,000-10,000 live births in the general population, but about 20-30% of all infants born with duodenal atresia have DS.Here, we present our observations from the clinical course of an infant with phenotypic features of DS.He started vomiting at 24 hours after birth, and an abdominal radiograph showed a classical "double bubble" sign.He was treated surgically with a duodenoduodenostomy where the proximal and distal segments of the duodenum were connected to bypass the atretic segment and restore continuity in the small intestine.The infant had a reasonably stable postnatal course.In this article, we have summarized our current understanding of the clinical-radiological correlation and the likely molecular mechanisms of DS-related duodenal atresia, involving the two dosage-sensitive genes on chromosome 21, dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) and regulator of calcineurin 1 (RCAN1); overexpression of these two genes disrupts key developmental pathways involving Wnt/β-catenin, sonic hedgehog (SHH), and fibroblast growth factor (FGF).These disruptions impair epithelial proliferation, apoptosis, and remodeling during embryonic duodenal recanalization, leading to luminal obstruction.