Hirschsprung's disease

Hirschsprung's disease (HD) is a congenital functional disorder characterized by the absence of ganglion cells in the enteric nervous system. The estimated incidence of HD is 1:5000 with up to 60% of patients having associated anomalies. Short-segment rectosigmoid disease is seen in 75% of cases with infants presenting with abdominal distension, bilious vomiting and delayed passage of meconium. A bedside rectal suction biopsy is the gold-standard in confirming the diagnosis of HD. The absence of ganglion cells in the myenteric and submucosal plexi in the presence of thickened hypertrophic nerves (more than 40 microns diameter) is diagnostic of HD.

Source: Paediatrics and Child Health - July 30, 2020 Category: Pediatrics Authors: Hemanshoo Thakkar, Joe Curry Tags: Symposium: gastroenterology Source Type: research