Hirschsprung's Disease and Allied Disorders : Concept and History

Abstract

Hirschsprung's disease and allied disorders present with functional intestinal obstruction in contrast to congenital conditions such as intestinal atresia, which typically manifest with features of mechanical obstruction. Hirschsprung's disease is characterized by the absence of intramural ganglion cells in the rectum and colon. Aganglionosis is restricted to the rectum and sigmoid colon in most patients, who can therefore be successfully treated with surgery, including resection of the dilated and aganglionic narrowed colonic segments with pull-through of the normoganglionic colon. However, an aganglionic segment that extends to the small bowel results in short bowel syndrome with poor outcomes in patients with total colonic aganglionosis. Patients with allied disorders show ganglion cells in the rectum ; however they tend to present with symptoms that mimic those of total colonic aganglionosis. Hypoganglionosis, megacystis microcolon intestinal hypoperistalsis syndrome, and chronic idiopathic intestinal pseudo-obstruction represent allied disorders of Hirschsprung's disease and are associated with poor outcomes. These patients can be treated with parenteral nutrition and appropriate intestinal decompression ; however, effective surgical treatment is unavailable. Long-term outcomes are poor, and most patients die of sepsis and liver failure. Studies are warranted to investigate the role of intestinal transplantation or novel stem-cell based therapeutic strategies.