Hirschsprung's disease

Abstract

Hirschsprung's disease (HD) is a congenital functional disorder characterized by the absence of ganglion cells in the enteric nervous system. The estimated incidence of HD is 1 in 5000 live births with up to 60% of patients having associated anomalies. This short article aims to provide paediatricians with an overview of the condition and the recent developments in our understanding. Short-segment rectosigmoid disease is seen in 75% of cases with infants presenting with abdominal distension, bilious vomiting and delayed passage of meconium. A bedside rectal suction biopsy is the gold-standard in confirming the diagnosis of HD. The absence of ganglion cells in the myenteric and submucosal plexi in the presence of thickened hypertrophic nerves (more than40 microns diameter) is diagnostic of HD. There are no medical options to treat HD, however rectal washouts can be used to bridge the gap to surgery. Contemporary management of this condition involves a single-stage pull-through that can be performed using various techniques including minimal access surgery. Long-term problems in with HD are common and these include obstructive symptoms (10–30%), constipation (10–15%), enterocolitis (10–15%) and true faecal incontinence (1–2%). Furthermore 20–30% of adults report symptoms of incontinence and constipation as well as poor sexual function. Future research is being focussed on novel gene therapies including stem-cell therapy and the use of CRISPR/CA9 to edit parts of the genome.