A 2-month-old infant presents with bilious vomiting and abdominal distension from day 2 of life. Plain abdominal X-ray shows a 'double bubble' sign with absent distal bowel gas. What is the most likely diagnosis and associated syndrome?
- A Jejunal atresia — associated with vascular accident (apple-peel deformity)
- B Malrotation with volvulus — associated with congenital diaphragmatic hernia
- C Duodenal atresia — commonly associated with Down syndrome (trisomy 21) ✓
- D Pyloric stenosis — associated with Turner syndrome
Explanation
The 'double bubble' sign on plain abdominal X-ray (two air-fluid levels in the stomach and proximal duodenum with no distal gas) is pathognomonic for duodenal atresia. Duodenal atresia results from failure of recanalisation of the duodenal lumen during fetal development and is associated with Down syndrome (trisomy 21) in 30% of cases. Jejunal atresia shows multiple dilated loops and is associated with intrauterine vascular accidents. Pyloric stenosis presents at 3–6 weeks with non-bilious projectile vomiting. Malrotation with volvulus presents with bilious vomiting but X-ray shows a 'corkscrew' appearance of the duodenum on barium meal.
Reference: Ghai Essential Pediatrics, 10th ed.
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Written and medically reviewed by the StethoPrep medical team.