Congenital duodenal obstruction associated with Down's syndrome presenting with hematemesis
A 2-day-old girl was referred to our service with sudden onset of severe hematemesis. Prenatal history was significant for intrauterine growth retardation. She was born at the gestational age of 37/40 with a birth weight of 2.1 kg. On examination she was found to have dysmorphic features suggestive of Down's syndrome, along with hypotonia, intercostal muscle retraction and a mildly distended epigastric region. She was suspected of meconium aspiration and sepsis. Her initial investigations revealed WBC of 20 100 μl, Hb of 16.8 g/dl, platelets of 114 000/μl and CRP of 10 md/l. After intravenous antibiotics, she remained stable but on Day 2 of life, she was noted to have high levels of orogastric aspirates mixed with blood. A plain X-ray revealed a dilated stomach and duodenum, with air in the distal small bowel (Fig. ). An APT test was negative. Repeat laboratory evaluation revealed WBC of 23 200 μl, Hb of 10.1 g/dl and platelets of 140 000/μl. She was started on ranitidine 10 mg daily but she continued to have fresh blood in her orogastric tube and her hemoglobin level dropped to 8.0 g/dl with INR 10, PT 120′ and APTT 180′. She was managed accordingly and after resuscitation, an upper GI contrast study was performed to rule out malrotation or mid-gut volvulus. Her upper GI contrast suggested an incomplete duodenal obstruction (Fig. ). To look for a source of bleeding, an upper GI endoscopy was not performed due to duodenal obstruction and a risk of perforation. The baby was taken to the operating theater for exploration to determine the cause of her ongoing hematemesis and to correct her duodenal obstruction. On exploration, her stomach and proximal duodenum were dilated with a narrowing noted in the second part of the duodenum. There was no malrotation of her gut and the rest of the bowel and solid viscera were normal. A duodenotomy of her proximal dilated duodenum revealed a complete diaphragm with a hole allowing passage of a small probe down into the distal duodenum. The mucosa of the proximal dilated duodenum was edematous and friable with multiple erosions. She underwent diamond-shaped duodenoduodenostomy for her CIDO. Her postoperative course was uneventful and hematemesis resolved. She was started on gradual nasogastric to oral feeding, which she tolerated very well. Further investigations revealed a right ectopic kidney and minor congenital cardiac defects. Her chromosomal analysis showed a karyotype of 47, XX, + 21 consistent with Down's syndrome.