Careskey J M, Weber T R, Grosfeld J L
Am J Surg. 1982 Jan;143(1):160-8. doi: 10.1016/0002-9610(82)90148-9.
Sixteen of 116 infants (14 percent) with Hirschsprung's disease had total colonic aganglionosis. Treatment was delayed in 6 of 16 patients because the condition was not recognized. Diagnosis was eventually achieved by rectal biopsy and the extent of aganglionosis was documented after multiple intestinal biopsies. All patients were initially managed by diverting enterostomy. Ileoanal pull-through operation was performed in nine patients at 12 to 24 months of age with no operative mortality. The overall mortality rate was 25 percent, including the deaths of two infants with diagnostic delay. Survivors had normal growth and satisfactory bowel function, Hirschsprung's disease should be suspected and rectal biopsy performed in infants with persistent or intermittent abdominal distention and constipation. Instances of total colonic aganglionosis can be documented by appropriate biopsies at the time of laparotomy. The modified Duhamel operation is an acceptable procedure for this condition. A ganglionic antimesenteric patch enteroplasty may prove a useful adjunct in infants with extensive aganglionosis involving the proximal small bowel.
116例患有先天性巨结肠症的婴儿中有16例（14%）存在全结肠无神经节细胞症。16例患者中有6例因病情未被识别而延误了治疗。最终通过直肠活检确诊，并在多次肠道活检后记录了无神经节细胞症的范围。所有患者最初均接受了转流性肠造口术治疗。9例患者在12至24个月大时接受了回肠肛管拖出术，无手术死亡病例。总死亡率为25%，其中包括2例因诊断延误而死亡的婴儿。幸存者生长正常，肠道功能良好。对于持续或间歇性腹胀及便秘的婴儿，应怀疑患有先天性巨结肠症并进行直肠活检。全结肠无神经节细胞症的病例可在剖腹手术时通过适当的活检得以证实。改良杜哈梅尔手术是治疗这种疾病的一种可接受的方法。对于涉及近端小肠的广泛无神经节细胞症的婴儿，神经节肠系膜对侧补片肠成形术可能是一种有用的辅助方法。
