Background: The association of Hirschsprung's disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 3.4% of ARM cases. Most of the reported cases in the literature have been single case reports. The aim of this systematic review was to determine the incidence of HD associated with ARM and its relationship to other syndromes.
Methods: A systematic review of the literature was performed for the keywords "association of Hirschsprung's disease and anorectal malformation", "aganglionosis and anorectal malformation" as well as "congenital megacolon and anorectal malformation". Resulting publications were reviewed for epidemiology, operative treatment and morbidity. Reference lists were screened for additional cases.
Results: A total of 38 articles reported 90 cases of HD coexisting with ARM from 1952 to 2013. Twenty eight articles reported 40 single case reports of this association. Ten articles reported 50 cases of HD in case series of 2,465 ARM patients, resulting in an incidence of 2% of this association. Gender was reported in 63 cases, with 30 males (48%) and 33 females (52%). Associated syndromes were reported in 23 patients: Currarino syndrome in 11, Down syndrome in 8, Cat eye syndrome in 3 and Pallister-Hall syndrome in one case. Extent of aganglionosis was reported in 49 cases and included classical rectosigmoid disease in 36, long segment aganglionosis in 5, total colonic aganglionosis in 7 and total intestinal aganglionosis in one patient. In 35% of the patients stoma was created in the aganglionotic region and failed to work. There was a median delay of 8 months for the diagnosis of HD from initial diagnosis of ARM. Various surgical techniques were employed for the pull-through operation for HD.
Conclusion: The review confirms that the recognition of HD is often delayed because of the initial diagnosis of ARM and the fact that the dysfunctional colostomy is usually proximal to the affected aganglionotic bowel. There is a high incidence of associated syndromes when HD coexists with ARM.