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Hirschsprung disease

Congenital megacolon; Hirschsprung's disease

Definition

Hirschsprung disease causes 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.

Causes

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 people with 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

Symptoms that may be present in newborns and infants include:

Difficulty with bowel movements
Failure to pass meconium shortly after birth
Failure to pass a first stool within 24 to 48 hours after birth
Infrequent but explosive stools
Jaundice
Poor feeding
Poor weight gain
Vomiting
Watery diarrhea (in the newborn)

Symptoms in older children:

Exams and Tests

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:

Abdominal x-ray
Anal manometry (a balloon is inflated in the rectum to measure pressure in the area)
Barium enema
Rectal biopsy

Treatment

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 one operation. However, it is often done in two parts. A colostomy is performed first. The other part of the procedure is done later in the child's first year of life.

Outlook (Prognosis)

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.

Possible Complications

Complications may include:

Inflammation and infection of the intestines (enterocolitis) may occur before surgery, and sometimes during the first 1 to 2 years afterwards. Symptoms are severe, including swelling of the abdomen, foul-smelling watery diarrhea, lethargy, and poor feeding.
Perforation or rupture of the intestine.
Short bowel syndrome, a condition that can lead to malnourishment and dehydration.

When to Contact a Medical Professional

Contact your child's provider if:

Your child develops symptoms of Hirschsprung disease
Your child has abdominal pain or other new symptoms after being treated for this condition

References

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 and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 98.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Motility disorders and Hirschsprung disease. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 358.

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Review Date: 11/6/2023

Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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