Hirschsprung's disease associated enterocolitis: A comprehensive review

Abstract

Hirschsprung’s disease (HSCR) is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction. Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment. Hirschsprung’s disease associated enterocolitis (HAEC) is an inflammatory complication associated with HSCR that can present either in the pre- or postoperative period and associated with increased morbidity and mortality. The pathogenesis of HAEC remains poorly understood, but intestinal dysmotility, dysbiosis and impaired mucosal defense and intestinal barrier function appear to play a significant role. There is no clear definition for HAEC, but the diagnosis is primarily clinical, and treatment is guided based on severity. Here, we aim to provide a comprehensive review of the clinical presentation, etiology, pathophysiology, and current therapeutic options for HAEC.

Keywords: Hirschsprung’s; Enterocolitis; Pathogenesis; Microbiome; Dysbiosis; Dysmotility; Treatment

Core Tip: Hirschsprung’s disease associated enterocolitis (HAEC) is an inflammatory complication of Hirschsprung’s disease (HSCR) with variable degrees of severity. It is important for pediatric providers to be aware of the signs and symptoms of HAEC as it can affect patients before or after corrective surgery. The pathogenesis of HAEC is multifactorial and previous and ongoing studies continue to improve our knowledge of this potentially fatal complication of HSCR and will ultimately allow clinicians to provide personalized care for these patients. In the meantime, current preventive measures and treatment guidelines have helped decrease the morbidity and mortality associated with HAEC.