Quinn F M, Surana R, Puri P
Children's Research Centre, Our Lady's Hospital for Sick Children, Dublin, Ireland.
J Pediatr Surg. 1994 Jun;29(6):781-3. doi: 10.1016/0022-3468(94)90369-7.
The association of Hirschsprung's disease (HD) and trisomy 21 has been well recognised. Seventeen (13%) of 135 patients presenting with HD between 1975 and 1992 had trisomy 21. Nine (53%) presented in the neonatal period, with intestinal obstruction (5), enterocolitis (2), or perforation of the colon (2). Eight patients presented after the neonatal period, with constipation. Pathological involvement included rectosigmoid (12), long segment (4), and total colonic aganglionosis (1). Definitive surgery was performed in 14 patients. At the mean follow-up of 8 years (4 to 15 years), only one of the 13 patients has normal bowel function. Eight have persistent soiling, and two have reverted to permanent stomata. There were two deaths in the series; one resulted from enterocolitis complicating HD, and the other from congenital cardiac disease. These data suggest that long-term bowel function in children with HD and trisomy 21 is poor and should be taken into consideration when planning the management.
先天性巨结肠（HD）与21三体综合征之间的关联已得到充分认识。1975年至1992年间，135例HD患者中有17例（13%）患有21三体综合征。9例（53%）在新生儿期发病，表现为肠梗阻（5例）、小肠结肠炎（2例）或结肠穿孔（2例）。8例在新生儿期后发病，表现为便秘。病理累及包括直肠乙状结肠（12例）、长段型（4例）和全结肠无神经节细胞症（1例）。14例患者接受了根治性手术。平均随访8年（4至15年），13例患者中只有1例肠道功能正常。8例持续存在污粪，2例又恢复为永久性造口。该系列中有2例死亡；1例死于HD并发的小肠结肠炎，另1例死于先天性心脏病。这些数据表明，HD合并21三体综合征患儿的长期肠道功能较差，在制定治疗方案时应予以考虑。
