Flageole H, Fecteau A, Laberge J M, Guttman F M
Department of Pediatric General Surgery, Montreal Children's Hospital/McGill University, Quebec, Canada.
J Pediatr Surg. 1996 Jun;31(6):759-60. doi: 10.1016/s0022-3468(96)90125-6.
Patients with trisomy 21 have a higher incidence of several gastrointestinal anomalies. However, the coexistence of imperforate anus, Hirschsprung's disease, and trisomy 21 had not been reported previously. This report describes the case of an infant girl born with trisomy 21 and imperforate anus, without a fistula, who presented with bowel obstruction 3 months after anoplasty. The obstruction was attributable to Hirschsprung's disease. This was managed by a leveling colostomy in the descending colon, followed by an endorectal pull-through after 4 weeks. She has a normal stooling pattern 11 months after colostomy closure. Hirschsprung's disease should be suspected in infants with trisomy 21 who have constipation after repair of imperforate anus. The authors believe that the endorectal pull-through is the safest technique to use for Hirschsprung's disease after a previous anoplasty.
21三体综合征患者出现多种胃肠道异常的发生率较高。然而，肛门闭锁、先天性巨结肠和21三体综合征并存的情况此前尚未见报道。本报告描述了一名患有21三体综合征和肛门闭锁且无瘘管的女婴病例，该女婴在肛门成形术后3个月出现肠梗阻。梗阻原因是先天性巨结肠。通过在降结肠进行低位结肠造口术进行处理，4周后再行直肠内拖出术。结肠造口关闭11个月后，她的排便模式正常。对于21三体综合征且肛门闭锁修复后出现便秘的婴儿，应怀疑患有先天性巨结肠。作者认为，直肠内拖出术是先前进行肛门成形术后治疗先天性巨结肠最安全的技术。
