Overview of Hirschsprung Disease: A Narrative Literature Review

Abstract

Hirschsprung disease is a congenital malformation resulting from the failure of neural crest cells to migrate into the gastrointestinal tract. The exact cause of this disorder is unknown, but it is suspected that there is an interaction of several factors, including gene mutations and epigenetic mechanisms. This literature review aimed to describe the pathophysiology, clinical symptoms, and treatment of Hirschprung disease. Mild to severe constipation is a common manifestation of Hirschsprung's disease with poor diet, poor weight gain, and progressive abdominal distention. However, diarrhea may be the first sign, as only water can flow around the affected stool. The most serious complication in the neonatal period is Hirschsprung-associated enterocolitis (HAEC), which can occur both preoperatively and postoperatively. Surgery is the definitive treatment in all cases of Hirschsprung's disease, with resection of the aganglionic segment and anastomosis of the bowel proximal to the anus, known as a pull-through procedure. In conclusion, Hirschsprung disease is a congenital aganglionic megacolon or functional obstruction of the large intestine and is caused by multifactorial factors, especially the role of genetic aspects.