Hirschsprung's Disease and Related neuromuscular Disorders of the Intestine

Hirschsprung's disease may present initially as perforated appendicitis, commonly in the newborn period.15,201,287 Serial biopsies of the colon are required in infants who present with such a clinical picture. In general, these perforations often denote longer lengths of aganglionosis. A great deal of controversy surrounds the use of the appendix to diagnose total colonic Hirschsprung's disease; however, histologic evaluation of the appendix is generally an excellent diagnostic tool.10 Innervation of the appendix differs slightly from that of the rest of the intestine; in cases of total colonic aganglionosis, the appendix has a paucity of nerve fibers and neuroendocrine cells.295 Evaluating the appendix at a relatively early stage in the initial surgical exploration of a child with Hirschsprung's disease often expedites the diagnosis. In one case, a child with presumed total colonic aganglionosis and aganglionosis of the appendix was subsequently found to have normal ganglion cells in the transverse colon.10 This extremely rare case represents segmental Hirschsprung's disease.