Hirschsprung disease

Abstract Hirschsprung disease (congenital aganglionosis) affects 1 in 5000 newborn infants. The disease is characterized by an absence of enteric nervous system ganglion cells within a variable segment of the distal gut extending proximally from the rectum. The genetic background is complex, although mutations in RET can be causative of Hirschsprung disease, and penetrance is variable and dependent on the influence of a large number of potential modifier genes. The majority of infants present in the perinatal period with delayed passage of meconium and abdominal distension. Contrast enema may suggest the diagnosis and the length of bowel affected, but definitive diagnosis depends on rectal biopsy. Although initial management is often non-operative, with regular bowel washouts, definitive treatment involves resection of the affected bowel segment and ‘pull-through’ of normally innervated bowel; a number of eponymous procedures have been described. Hirschsprung enterocolitis is a potentially life-threatening complication in the early years of life. Long-term outcomes are variable and difficult to predict.