Hirschsprung Disease

Abstract

In 1886, Harald Hirschsprung first described a disorder in newborns of severe constipation with dilatation and hypertrophy of the colon. No mechanical obstruction could be demonstrated, but there appeared to be an area of spasm that prevented the movement of lumen contents through the sigmoid or rectum. This disorder, termed Hirschsprung disease, later was recognized to be due to an absence of the intramural neural ganglia in the rectum, and provided the first example of an abnormality of intestinal innervation associated with a disorder of gastrointestinal movement. Recent insights into the development of the gastrointestinal neural plexus that provide new clues to the pathogenesis of Hirschsprung disease are discussed in the first section of this review. Despite continued uncertainty about the pathogenesis of Hirschsprung disease, surgical treatment approaches have evolved over the past 50 years, and after removal of the abnormal bowel, most affected children lead normal, productive lives. Unfortunately, children who have Hirschsprung disease can develop life-threatening bowel obstruction with perforation or severe diarrhea and sepsis before surgery. Early diagnosis and surgical treatment are crucial to preventing these complications, which remain the major cause of serious morbidity and mortality. To assure early diagnosis, this article reviews the clinical presentations of Hirschsprung disease and provides an approach to the differential diagnosis of constipation among infants and children.