Hirschsprung's Disease

What is Hirschsprung's disease?

Hirschsprung’s is a condition that primarily affects the large intestine (colon) and causes problems with passing stool. Hirschsprung's disease occurs in 1 out of every 5,000 live births. The disease is present when a baby is born and results from missing nerve cells in the muscles of the baby’s large intestine and rectum that did not completely form. As a baby develops before birth, bundles of nerve cells normally begin to form between the muscle layers along the length of the colon. This process begins at the top of the colon and ends at the bottom (the rectum). Nerve cells are important to the functioning of the colon. They control the regular muscle contractions that keep food and stool moving through the bowels. Symptoms usually appear shortly after birth, but sometimes they are not apparent until later in life. The earliest sign of Hirschsprung’s disease is a failure of the newborn to have a bowel movement within 48 hours after birth.

It is not clear what exactly causes the nerve abnormalities of Hirschsprung’s disease. Some risk factors include: family members with the disease and Down syndrome. The following are the most common symptoms of Hirschsprung's disease. However, each individual may experience symptoms differently. Symptoms may include:
  • Not having a bowel movement in the first 48 hours of life 
  • Gradual bloating of the abdomen 
  • Gradual onset of vomiting 
  • Fever
Children who do not have early symptoms may also present the following:
  • Constipation that becomes worse with time 
  • Loss of appetite 
  • Delayed growth 
  • Passing small, watery stools

How is Hirschsprung's disease treated?

Hirschsprung’s disease is treated with surgery to bypass the part of the colon has no nerve (ganglia) cells. But first, before the surgery, there may be one or more of the following tests to diagnose or rule out the disease first such as:
  • Abdominal X-ray. A plain x-ray which may show a lack of stool in the large intestine or near the anus and dilated segments of the large and small intestine. 
  • Barium enema. A procedure performed to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an X-ray) is given into the rectum as an enema. An X-ray of the abdomen shows strictures (narrowed areas), obstructions (blockages), and dilated intestine above the obstruction. 
  • Anorectal manometry. A test that measures nerve reflexes which are missing in Hirschsprung's disease. 
  • Rectal biopsy. A test that takes a sample of the cells in the rectum or large intestine and then looks for nerve cells under a microscope. This may be done at the bedside or in the operating room under anesthesia.
Once a diagnosis is confirmed, your child will need to have surgery. This is usually done laparoscopically which is a minimally invasive approach to surgery. The lining of the diseased part of the colon is stripped away, and normal colon is pulled through the colon from the inside and attached to the anus. In children who are very ill, the surgery may require two steps. A colostomy may be performed first and the correction of the Hirschsprung’s disease done at a later date. The goal of the surgery is to remove the affected portion of the colon.

What will happen in the hospital?

If your child is diagnosed with Hirschsprung’s disease as a newborn they may have the pullthrough operation performed before they are discharged to home. If they have an infection of the colon identified (enterocolitis) while in the hospital or they have a more severe form of Hirschprung’s disease they may have a colostomy performed first. If a colostomy is performed you will be taught how to manage this colostomy.

When will my child be discharged?

Your child will be discharged to home when they are eating well and have gained weight for several days. If your child has had a colostomy performed we will teach you how to manage the colostomy.

What should I look out for after the operation and hospitalization?

In the early postoperative period we will ask you to observe the surgical wounds for infection. Signs of infection are: redness of the wound, pus draining from the wound, fever, and increasing pain in the wound. Hirschsprung’s associated enterocolitis is a complication that occurs both postoperatively and preoperatively. Infants and children with enterocolitis have bloating, watery diarrhea, foul smelling stool, and fever. If these symptoms occur after the operation contact your pediatric surgeon immediately as your child may need emergency treatment and hospitalization.

When should I call the doctor?

  • Constipation that lasts more than 48 hours
  • Diarrhea
  • Fever
  • Abdominal bloating
  • Bleeding from the rectum