Hirschsprung disease is characterized by functional bowel obstruction secondary to congenital parasympathetic aganglionosis. It occurs in 1 in 5000 live births, with a 4:1 male-to-female preponderance. The majority of affected children present in the neonatal period with failure to pass meconium in the first 48 of hours life followed by feeding intolerance, abdominal distension, and explosive stooling on rectal stimulation. Contrast enema aids in the diagnosis, which is confirmed pathologically by the absence of ganglion cells on rectal biopsy. Treatment is surgical with resection of the distal aganglionic bowel followed by anastomosis of the normally innervated bowel to the distal rectum. Children with Hirschsprung disease are at risk for Hirschsprung-associated enterocolitis, which may be life-threatening, as well as lifelong bowel dysmotility characterized by chronic constipation.
KeywordsHirschsprung disease Aganglionosis Neonatal bowel obstruction Hirschsprung-associated enterocolitis Endo-rectal pull-through
- 1.Langer JC. Pediatric surgery. In: Coran AG, Adzick NS, Krummel TM, Laberge JM, Shamberger RC, Caldamone AA, editors. Hirschsprung disease. 7th ed. Philadelphia: Saunders; 2012.Google Scholar