Hirschsprung Disease in the Premature Newborn: a Population Based Study and 40-year Single Center Experience

Background/purpose: Understanding of Hirschsprung disease (HD) in premature newborns (PHD) is anecdotal. We have sought in this study to identify the demographic and clinical features of PHD.

Methods: All patients with HD 1970-2011 treated at our tertiary care children's hospital were identified. Patients with biopsy confirmed HD and EGA <37weeks were selected for further review. Prenatal and birth data, demographics, clinical signs, radiologic and pathologic data, and operative interventions were examined. The occurrence of PHD was observed using data from the Utah Department of Health database 1997-2011.

Results: 404 patients with HD from 1970 to 2011 were treated. Twenty-seven (6.7%) had PHD. Mean birth weight in PHD was 2196grams and mean gestational age 34 (range 29-36)weeks. Seven patients had Down syndrome. Nonchromosomal anomalies occurred in 25%. Median time from birth to biopsy diagnosis was 42days (range 2-316days). The most common presenting signs were abdominal distension and bilious emesis. The HD incidence in Utah for all births was 1/4322 (0.023%) and for premature infants 1/3885 (0.027%).

Conclusions: PHD are similar to term infants with HD. Diagnosis of HD is often delayed in premature newborns, and associated anomalies are more common.