The History of Hirschsprung’s Disease: Then and Now

THEN (From Hirschsprung to Swenson):By 2000, more than 500 articles had been published to clarify Hirschsprung’s disease. Since it was not initially differentiated from other types of megacolon, the literature up to 1950 was confused by the inclusion of inappropriate material. In 1886, Hirschsprung presented his classic description, although he failed to recognize that the cause of the proximal megacolon was in the distal, narrow, aganglionic rectosigmoid. Sixty years later, classic articles by Swenson and others appeared that focused on clinical, radiological, surgical, and histological aspects of Hirschsprung’s disease and formed the basis of diagnosis and treatment as we practice it today.NOW (From Swenson to Genetic Mapping and Molecular Biology):The difficulties encountered in the early procedures were in large part due to technical errors resulting from a poor understanding of the pathophysiology of this disease. As our understanding of Hirschsprung’s disease improved, operations evolved into those that are presently performed. In the period following Swenson’s procedure, surgical techniques were refined and certain dogmas were abandoned. The pertinent events leading up to the current standards of practice are discussed in this section. Although a detailed review of the molecular biology of Hirschsprung’s disease is presented in another article in this journal (Goldstein), key discoveries along the journey to present therapy are discussed here.