Hirschsprung disease is a birth defect in which a section of the large intestine is missing the nerve network that controls the intestine's rhythmic contractions. Symptoms of intestinal obstruction occur.
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 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).
(See also Overview of Digestive Tract Birth Defects.)
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 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) 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.
