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Hirschsprung Disease Related to Colorectal

graphic of Hirschsprung disease in the large intestines of a baby

Hirschsprung disease is a congenital condition that occurs when a lack of nerve cells in the lining of the colon do not develop in a fetus early on in pregnancy. These nerves would normally work to allow the muscles of the bowel to contract in order to move waste through the digestive system down toward the anus, resulting in a bowel movement. When these nerves do not exist, the wave-like motion that allows this movement cannot occur. Hirschsprung disease results in a blockage of the intestine, severe constipation and a host of other health problems.

The severity of the condition depends on how much of the large intestine has been affected. Typically, the large intestine of a child is about five feet long. The disease can affect any part of the intestine, but most commonly occurs in the rectum and sigmoid colon (the lower part of the colon).

The prognosis for children with Hirschsprung disease is usually very good following surgical treatment to remove the non-functioning part of the colon. Many will go on to have normal bowel function restored.

Symptoms of Hirschsprung disease usually occur within the first month of life. Some children may not show symptoms for up to several months while others become ill very quickly.
Symptoms of Hirschsprung disease include:
- The absence of a bowel movement in the first two days of life
- A bloated or distended abdomen
- Vomiting (the color of bile, anywhere from dark green to yellow brown)
- Fever
- Diarrhea (enterocolitis)
Symptoms in older children include:
- Sepsis
- Severe Constipation
- Loose and watery stools (enterocolitis)
- Loss of appetite
- Delayed growth (failure to thrive)
Most babies exhibit signs and symptoms of Hirschsprung disease within the first week of being born. While many with the disease are diagnosed in infancy, others on very rare occasions, may not receive a diagnosis until adolescence. To treat abdominal distension, irrigations of the colon are usually required to help get the stool and gas out. Our colorectal surgeons and GI motility specialists perform the latest diagnostic tests and tools to diagnose Hirschsprung disease.
Diagnostic tests include:
- Anorectal manometry: Used to evaluate whether the bowel at the level of the anal sphincters is working properly. The test involves the use of a small balloon to record pressure changes in the anus and rectum.
- Biopsy of the rectum: Doctors remove a small piece of tissue from the child’s rectum to examine nerve cells under a microscope to confirm a Hirschsprung disease diagnosis.
- Contrast enema: an X-ray of the colon that uses a special dye to show physicians what part of the colon is affected or diseased
- X-ray: an X-ray of the abdominal area is performed to identify intestinal blockages
Surgery is always necessary to treat Hirschsprung disease so that normal function of the bowel can be restored. The goal of surgery is to remove the portion of the intestine that is not functioning so that your child can regain the ability to push waste through the digestive tract.
Surgery is done through the anus and using non-invasive laparoscopic techniques. Non-invasive surgical techniques allow your child to heal faster, experience less pain and in some cases, allow for shorter hospital stays.
In rare cases, if there is enterocolitis and irrigations have not been effective an ileostomy or colostomy may be performed. The types of procedures move waste out of the intestines into a small pouch located outside of the body. This procedure is done to allow the intestines to heal until surgery can be performed if needed.
Colostomy
A colostomy is a surgical procedure that creates an opening for the colon, or large intestine to excrete waste in a small bag located outside of the body. Most babies born with an anorectal malformation will need a temporary colostomy within the first few days of life. The colostomy will ensure the baby can properly pass stool, helps to normalize digestion and greatly reduces the risk of infection.
Ileostomy
If your child has a malformation of the large intestines that interferes with waste existing the body, an ileostomy may be performed. an ileostomy involves connecting a part of the small intestine to a surgical opening in the abdomen that allows feces to move outside of the body into a small pouch. This provides a temporary solution for stool to exit until your child is ready to undergo reconstructive surgery. Once the ileostomy is no longer needed, surgery will be performed to connect the large and small intestine.
After surgery your child will likely stay in the hospital for approximately four to seven days. Some children may need to stay longer depending on the severity of their condition. During this time, your child will need plenty of rest and will be given an IV to help stay hydrated.
Prior to leaving the hospital, your medical team will help advise you on how to care for your child once they are home. They will instruct you on how to keep abdominal incisions clean and dry. Because they will be passing stool several times a day, the skin around your child’s anus will require special care to keep it from becoming irritated. Your child’s nurses will tell you what topical medications should be used to provide relief against a rash. If constipation becomes a problem, it’s important to have your child follow a healthy diet, eat plenty of fiber, take medications such as laxatives if necessary and stay hydrated. As your child heals they should begin a bowel management program to facilitate and maintain the best possible bowel function as well as to minimize the possibility of soiling.
Enterocolitis
Some patients may develop enterocolitis, which is an intestinal infection that can cause severe diarrhea. Enterocolitis can occur prior to or after surgery. Your colorectal specialist will treat your child’s enterocolitis with bowel irrigations and antibiotics.