Navigate Up

Neurology Center - A-Z Index

#
J
Q
X
Y
Z

Print This Page

Hirschsprung’s disease

Hirschsprung's 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.

Alternative Names

Congenital megacolon

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 Hirschsprung's 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's disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung's 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 - 48 hours after birth
  • Infrequent but explosive stools
  • Jaundice
  • Poor feeding
  • Poor weight gain
  • Vomiting
  • Watery diarrhea (in the newborn)

Symptoms in older children:

  • Constipation that gradually gets worse
  • Fecal impaction
  • Malnutrition
  • Slow growth
  • Swollen belly

Exams and Tests

Milder cases may not be diagnosed until the baby is older.

During a physical exam, the doctor may be able to feel loops of bowel in the swollen belly. A rectal exam may reveal a loss of muscle tone in the rectal muscles.

Tests used to help diagnose Hirschsprung's 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 with 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

  • Inflammation and infection of the intestines (enterocolitis) may occur before surgery, and sometimes during the first 1 - 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

Call your child's health care provider if:

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

References

Kessmann J. Hirschsprung's Disease: Diagnosis and Management. Am Fam Phys. 2006;74:1319-1322.

Fiorino K, Liacouras CA. Congenital aganglionic megacolon (Hirschsprung disease). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 324.3.

Updated: 12/4/2013

Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by A.D.A.M. Health Solutions. All rights reserved.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

© UPMC
Pittsburgh, PA, USA UPMC.com