Observations on congenital megacolon

Advances in Hirschsprung Disease Genetics and Treatment Strategies

“…Despite recognition of abnormal innervation of the bowel in the setting of HSCR, the etiology remained incompletely understood and remained a topic of debate with authors positing inflammatory, congenital anomalies, neuromuscular defects, and mechanical etiologies (eg, muscular hyperplasia). 2 During this period, a number of surgical methods were instituted, including lumbar sympathectomy to relax distal bowel, resection of the normal but dilated proximal colon, and attempts at spinal anesthesia. 51 -53 Surgical therapy was viewed as a salvage therapy for failure of medical therapies, which included use of enemata, liquid paraffin, mineral oil, colonic massage, Mecholyl (a sympathetic stimulant), and Syntropan (a parasympathetic inhibitor).…”

“…Prior to development of successful surgical therapies, mortality rates were reported as high as 88% with outcomes likely dependent on severity of disease phenotype. 2 HSCR may be short-segment (up to 85% of cases), defined as an absence of ganglion cells extending from the anorectal junction to the splenic flexure, or long-segment disease (approximately 10% of cases), defined as aganglionosis extending proximal to the splenic flexure. 3 Although somewhat rare (5% to 7% of all HSCR cases), total colonic aganglionosis may be present in up to 60% of children with long-segment disease.…”