A neonate born at 35 weeks has bilious vomiting from birth. Abdominal X-ray shows a 'double bubble' sign with no distal bowel gas. What is the MOST likely diagnosis and associated genetic condition?
- A Duodenal atresia; associated with Down syndrome (Trisomy 21) in 30% of cases ✓
- B Malrotation with volvulus; associated with left isomerism
- C Jejunal atresia; associated with cystic fibrosis
- D Hirschsprung disease; associated with MEN2
Correct answer: A. Duodenal atresia; associated with Down syndrome (Trisomy 21) in 30% of cases
Explanation
A 'double bubble' sign (stomach + dilated duodenum) with NO distal bowel gas is pathognomonic of duodenal atresia, which results from failure of recanalisation of the duodenal lumen during embryogenesis. Approximately 30% of cases are associated with Down syndrome (Trisomy 21), and the condition is also associated with annular pancreas, malrotation, and cardiac defects. Treatment is duodeno-duodenostomy. Malrotation would show gas in the bowel beyond the obstruction.
Reference: Bailey & Love's Short Practice of Surgery, 27th ed.
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