Merck Manual

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Hirschsprung Disease

(Congenital Megacolon)


Jaime Belkind-Gerson

, MD, MSc, University of Colorado

Reviewed/Revised Aug 2023
Topic Resources
  • This defect affects the large intestine so that normal bowel contractions do not occur at that location.

  • Typical symptoms include delayed passage of meconium in the newborn, vomiting, refusing to eat, and a swollen abdomen in later infancy.

  • The diagnosis is based on a rectal biopsy and measurement of the pressure inside the rectum.

  • Surgery is done to restore the normal passage of food through the intestines.

The large intestine Large Intestine The large intestine consists of the Cecum and ascending (right) colon Transverse colon Descending (left) colon Sigmoid colon (which is connected to the rectum) read more depends on a network of nerves within its walls to synchronize rhythmic contractions and move digested material toward the anus, where the material is expelled as feces. In Hirschsprung disease, the affected section of intestine cannot contract normally. Without these normal contractions, material in the intestines builds up. Sometimes, Hirschsprung disease can lead to life-threatening enterocolitis, which is inflammation of the large intestine (colon).

Overview of Hirschsprung Disease

Symptoms of Hirschsprung Disease

Normally, almost all newborns pass meconium (a dark green material that is considered the first bowel movement) in the first 24 hours of life. Delayed passage of meconium raises the suspicion of Hirschsprung disease.

Later in infancy, children with Hirschsprung disease can have symptoms that suggest intestinal obstruction, such as bile-stained vomit, a swollen abdomen, refusal to eat, malnutrition, and constipation. If only a small section of the intestine is affected, a child may have milder symptoms and may not be diagnosed until later in childhood or, rarely, adulthood.

Hirschsprung enterocolitis causes sudden fever, a swollen abdomen, and explosive and, at times, bloody diarrhea.

Diagnosis of Hirschsprung Disease

  • Barium enema

  • Rectal biopsy

  • Measurement of the pressure in the rectum

Initially, a barium enema Barium X-Ray Studies of the Digestive Tract X-rays often are used to evaluate digestive problems. Standard x-rays ( plain x-rays) can show some blockages or paralysis of the digestive tract, or abnormal air patterns in the abdominal cavity... read more is done to evaluate the defect. During a barium enema, the doctor instills barium and air into the child's rectum and then takes x-rays. (Doctors do not do a barium enema if they suspect the baby has enterocolitis.)

Rectal biopsy (removal of a piece of tissue from the rectum for examination under a microscope) and measurement of the pressure inside the rectum (manometry Manometry Manometry is measurement of pressure within various parts of the digestive tract. People must not eat or drink anything after midnight before the test. In this test, a flexible tube with pressure... read more ) are the only tests that can be used reliably to diagnose Hirschsprung disease.

Treatment of Hirschsprung Disease

  • Surgery

Severe Hirschsprung disease must be treated quickly to lower the risk of enterocolitis.

Hirschsprung disease is usually treated with surgery to remove the abnormal section of intestine and to connect the normal intestine to the rectum and anus.

Children who develop Hirschsprung enterocolitis are hospitalized and are given fluids and antibiotics by vein. Then a long, thin tube is passed through the nose and placed in the stomach or intestine (nasogastric tube) and another tube is placed in the rectum. Saline is inserted into the rectum to wash away stool (called rectal irrigation) that has built up in the intestines. Surgery is done to remove the section of the intestines that is not functioning.

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