Abstract
The association of trisomy 21 and Hirschsprung's disease (HD) is well known. In a neonate, HD characteristically presents with delayed passage of meconium and/or intestinal obstruction. However, the presence of duodenal atreasia (DA), which may present similarly, can mask the associated HD. Over an 18-year period, 17 of 135 patients with HD had trisomy 21. Three of these 17 patients presented with duodenal obstruction in the newborn period — 2 had DA and 1 a complete duodenal web. One patient developed a perforation of the jejunum 7 days after laparotomy and duodenoduodenostomy and was found to have HD while the other 2 were later investigated because of persistent unresponsive constipation and confirmed to have HD at 1 and 2 years of age. In spite of associated Down's syndrome and DA, the possibility of HD should be considered in patients who have a complicated postoperative course or persisting abnormal stooling patterns.
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Surana, R., Quinn, F.M.J. & Puri, P. Hirschsprung's disease in association with trisomy 21 and duodenal obstruction. Pediatr Surg Int 9, 366–367 (1994). https://doi.org/10.1007/BF01686003
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DOI: https://doi.org/10.1007/BF01686003