Hirschsprung's disease in the UK and Ireland: incidence and anomalies

OBJECTIVES To describe clinical characteristics and preoperative management of a national cohort of infants with Hirschsprung's disease (HD). DESIGN Population-based cohort study of all live-born infants with HD born in the UK and Ireland from October 2010 to September 2012. SETTING All 28 paediatric surgical centres in the UK and Ireland. PARTICIPANTS 305 infants presenting before 6 months of age with histologically proven HD. MAIN OUTCOME MEASURES Incidence, clinical characteristics including gestational age, birth weight, gender, associated anomalies; age and clinical features at presentation; and use of rectal washouts or stoma. RESULTS The incidence of HD in the UK and Ireland was 1.8 per 10 000 live births (95% CI 1.5 to 1.9). Male to female ratio was 3.3:1. An associated anomaly was identified in 23% (69), with 15% (47) having a recognisable syndrome. The proportion of infants who presented and were diagnosed in the neonatal period was 91.5% (279) and 83.9% (256), respectively. 23.9% (73) and 44.2% (135) passed meconium within 24 and 48 hours of birth. 81% (246) first presented to a hospital without tertiary paediatric surgical services, necessitating interhospital transfer. Initial colonic decompression was by rectal washouts in 86.2% (263) and by defunctioning stoma in 12.8% (39). Subsequently, 27.4% (72) of infants failed management with rectal washouts and required a delayed stoma, resulting in 36.4% (111) of infants having a stoma. CONCLUSIONS In this population-based cohort, presentation outside the neonatal period was rare. Nearly half of the infants with HD passed meconium within 48 hours of birth and over one third were managed with a stoma.