Hirschsprung’s Disease

Abstract

Hirschsprung’s disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by the absence of ganglion cells in the distal bowel beginning at the internal sphincter and extending proximally for varying distances. The absence of ganglion cells in HSCR has been attributed to a failure of migration of neural crest-derived cells.The earlier the arrest of migration, the longer the aganglionic segment of bowel. Eighty to ninety percent of patients with HSCR produce clinical symptoms and are diagnosed in the neonatal period. Delayed passage of meconium is the cardinal symptom in over 90% of affected neonates. About one-third of babies with HSCR present with enterocolitis which remains the most common cause of morbidity and mortality in the disease. This chapter describes in depth the etiopathogenesis, pathophysiology, diagnosis, and management of Hirschsprung’s disease. The progress in understanding of normal gut development and motility has led to an expanding field of research into developing novel therapies for HSCR. During the last decade, there has been an increasing focus on the development of novel stem cellbased therapies for the treatment of HSCR. Research is ongoing to determine the optimal source of stem cells to generate a new enteric nervous system in the aganglionic bowel and also to determine the best way to deliver stem cells to the affected bowel.