This defect affects the large intestine so that normal bowel contractions do not occur.
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).
(See also Overview of Digestive Tract Birth Defects Overview of Digestive Tract Birth Defects The digestive organs may be incompletely developed or abnormally positioned, causing blockages, or the muscles or nerves of the digestive tract may be defective. Symptoms depend on the location... read more .)
Symptoms of Hirschsprung Disease
Normally, 98% of newborns pass a dark green fecal material called meconium 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
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) do not require any special preparation (see Plain X-Rays). These x-rays usually can show a blockage or paralysis... 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.
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
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.
Until recently, surgery was done in two stages. In the first stage, the surgeon connected the lower end of the normal part of the intestine to an opening made in the abdominal wall (colostomy [see figure Understanding Colostomy Understanding Colostomy An obstruction of the intestine is a blockage that completely stops or seriously impairs the passage of food, fluid, digestive secretions, and gas through the intestines. The most common causes... read more ]). The colostomy allowed stool to pass through the opening into a collection bag, restoring normal movement of food through the intestines. The abnormal section of intestine was left disconnected from the rest of the intestine. When the child was older and healthier, the surgeon did the second stage to close the colostomy, remove the abnormal section of intestine, and connect the normal part of the intestine to the rectum and anus in a so-called pull-through procedure. However, many surgeons now do only one operation to remove the abnormal part of the intestine and make the connection to the rectum. In this one-stage operation, the colostomy is not created.
In a colostomy, the large intestine (colon) is cut. The part that remains connected to the colon is brought to the skin surface through an opening that has been formed. The part is then stitched to the skin. Stool passes through the opening and into a disposable bag.
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.