HIRSCHSPRUNGS-DISEASE IN ASSOCIATION WITH TRISOMY-21 AND DUODENAL OBSTRUCTION

The association of trisomy 21 and Hirschsprung's disease (HD) is well known. In a neonate, HD characteristically presents, with delayed pass age of meconium and/or intestinal obstruction. However, the presence o f duodenal atreasia (DA), which may present similarly, can mask the as sociated HD. Over an 18-year period, 17 of 135 patients with HD had tr isomy 21. Three of these 17 patients presented with duodenal obstructi on in the newborn period - 2 had DA and 1 a complete duodenal web. One patient developed a perforation of the jejunum 7 days after laparotom y and duodenoduodenostomy and was found to have HD while the other 2 w ere later investigated because of persistent unresponsive constipation and confirmed to have HD at 1 and 2 years of age. In spite of associa ted 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.