Hirschsprung disease is a blockage of the large intestine. It occurs due to poor muscle movement in the bowel. It is a congenital condition, which means it is present from birth.
Muscle contractions in the gut help digested foods and liquids move through the intestine. This is called peristalsis. Nerves between the muscle layers trigger the contractions.
In Hirschsprung disease, the nerves are missing from a part of the bowel. Areas without these nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage. The bowel and abdomen swell as a result.
Hirschsprung disease causes about 25% of all newborn intestinal blockages. It occurs 5 times more often in males than in females. Hirschsprung disease is sometimes linked to other inherited or congenital conditions, such as Down syndrome.
Symptoms that may be present in newborns and infants include:
Symptoms in older children:
Milder cases may not be diagnosed until the baby is older.
During a physical exam, the health care provider may be able to feel loops of bowel in the swollen belly. A rectal exam may reveal tight muscle tone in the rectal muscles.
Tests used to help diagnose Hirschsprung disease may include:
A procedure called serial rectal irrigation helps relieve pressure in (decompress) the bowel.
The abnormal section of colon must be taken out using surgery. Most commonly, the rectum and abnormal part of the colon are removed. The healthy part of the colon is then pulled down and attached to the anus.
Sometimes this can be done in 1 operation. However, it is often done in 2 parts. A colostomy is performed first. The other part of the procedure is done later in the child's first year of life.
Symptoms improve or go away in most children after surgery. A small number of children may have constipation or problems controlling stools (fecal incontinence). Children who get treated early or who have a shorter segment of bowel involved have a better outcome.
Complications may include:
Call your child's provider if:
Bass LM, Wershil BK. Anatomy, histology, embryology, and developmental anomalies of the small and large intestine.In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger & Fordtran's Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 98.
Kliegman RM, Stanton BF, St Geme JW, Schor NF. Motility disorders and Hirschsprung disease. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 332.
Last reviewed on: 11/19/2015
Reviewed by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.