Diagnosis and pathophysiology of Hirschsprung’s disease

Abstract

Hirschsprung’s Disease (HD) is relatively common in children. Surgical treatment is aimed at removing the aganglionic section of the gut and repairing the intestinal tract. Despite some achievements of recent years, the diagnosis of the disease is not always timely. After surgical correction, functional problems may arise. The final diagnosis of HD is based on rectal biopsy. Nevertheless, the diagnostic process may involve a contrast barium enema, which in some cases allows to reject the putative diagnosis of HD, and in 70%–90% of cases establish the location of the transition zone. Some authors recommended the use a manometric study to exclude HD, but its use is recently decreasing. During normal early embryonic development, the nerve cells invade the primary intestine in a craniocaudal direction. The enteric ganglia are interconnected to form two plexuses that extend along the length of the bowel: an outer myenteric (Auerbach) plexus running through the full length of the gut, and an inner submucosal (Meissner) plexus, found only in the small and large intestine. The myenteric plexus develops first and