What is Hirschsprung Disease?

Hirschsprung Disease is a congenital disorder (a condition you are born with) of the intestines. It occurs when the nerve cells that are normally present in the wall of a child’s intestines do not form correctly. This usually happens in one of the last parts of the intestine called the rectum. The nerve cells are called ganglion cells. Ganglion cells help move stool through the intestines in a coordinated fashion called peristalsis. When

normal peristalsis cannot occur, stool backs up. The major symptom is severe constipation and sometimes this obstruction may lead to a life-threatening infection, called enterocolitis, and possible perforation (a hole) in the bowel.

The part of the intestine that is affected in Hirschsprung Disease varies. It can affect only the rectum and lower colon or could affect the entire colon and even part of the small intestine.

All children with Hirschsprung Disease will need surgery to remove the part of the intestine that does not function normally.

Hirschsprung Disease occurs in 1 out of every 5,000 live births. It happens more often in boys. It is usually the only birth defect, although it may occur in children with other syndromes, such as Down Syndrome. Sometimes Hirschsprung Disease runs in families, other times it is a random occurrence.


Symptoms of Hirschsprung Disease

Most children with Hirschsprung disease have symptoms within the first few days of life. These symptoms depend on how much of the intestine is affected. Sometimes, children who have a very short segment involved may not show symptoms for several months or even years, while children who have longer lengths of affected intestine will show symptoms very quickly.

Newborns can have the following signs of Hirschsprung Disease:

  • Failure to pass meconium (stool) in the first two days of life
  • Distension (bloating) of the abdomen
  • Vomiting
  • Fever
  • Refusal to eat

Infants can have the following signs of Hirschsprung Disease:

  • Poor growth (failure to thrive)
  • Lack of appetite
  • Distension (bloating) of the abdomen
  • Diarrhea and vomiting
  • Infection in the intestines called enterocolitis, which often causes explosive, watery or bloody diarrhea, fever, vomiting, and the infant may look very sick

Older children can have the following signs of Hirschsprung Disease:

  • Ribbon-like stools that smell bad
  • Distension (bloating) of the abdomen
  • Poor growth (failure to thrive)
  • Severe constipation and fecal impaction


Diagnosing Hirschsprung Disease

Most children with Hirschsprung disease will be diagnosed during infancy. Doctors perform several tests in order to confirm the diagnosis, including:

  • Abdominal x-ray: This is an x-ray of the belly and can show if the intestines are blocked.

  • Contrast enema: This is a special type of enema with x-ray dye. The dye makes the intestines easier to see on x-ray. This x-ray of the rectum and colon often shows a transition from narrow bowel (Hirschsprung affected) to dilated bowel (normal).

  • Rectal biopsy: This test must be done to diagnose Hirschsprung Disease. It is a test that takes a small bit of tissue from the rectum to be examined with a microscope to look for nerve cells. In infants, a suction rectal biopsy may be done in the child’s hospital room or doctor’s office. This does not hurt because children cannot feel that part of the intestine. In older children, the biopsy if often performed in the operating room under anesthesia. 
  • Anorectal manometry: This test uses a small balloon to record pressure changes within the colon and rectum and determines if there are normal reflexes in the colon and anus. These reflexes are absent in Hirschsprung disease. This test is only used in older children.


Treatment of Hirschsprung Disease

Hirschsprung Disease is treated with surgery. Most children who are treated eventually do well and go on to have good bowel function.

During surgery, the part of the intestine without ganglion cells is removed. Then, the normal intestine is attached to the anus (called a pull-through procedure). The surgeon may do this in one or two surgeries.

One-stage surgery is commonly used for newborns. The intestine without ganglion cells is removed and the normal intestine is attached to the anus.

Two-stage surgery may be required in children with other severe medical conditions, a long segment of affected intestine or in older children. The first stage is to create a colostomy at the level of the normal colon. The surgeon makes a small hole in the belly and attaches part of the colon to the skin. This is called a stoma. A small bag is

attached to the stoma so stool can leave the body and empty into the bag. The child can eat and grow with the colostomy in place. In the second stage of surgery, the part of the intestine without ganglion cells is removed. The stoma is closed with stitches and the normal intestine is attached to the anus.

The pediatric surgeon will decide which procedure is best for your child. The choice is complicated. If the surgeon chooses one-stage surgery, you may have to give your child rectal irrigations prior to surgery to allow your child to pass stool.

Long-term Complications

Complications Associated with Hirschsprung Disease

Usually, surgical outcomes are very good, however, intestinal infections can occur even after surgery. This type of infection is called enterocolitis. This is serious infection and could be life threatening. This can occur if stool and bacteria back up in the colon. These infections usually stop by age 5.

Signs and symptoms of enterocolitis include the following:

  • fever
  • swollen belly
  • vomiting
  • diarrhea
  • bleeding from the rectum
  • sluggishness

If your child has these signs, call your child’s doctor immediately. The doctor will want your child to receive rectal irrigations to rinse stool and bacteria out of the colon. The surgeon may admit your child to the hospital for IV fluids and antibiotics.

Constipation is another potential complication but can be managed with laxatives and diet changes.

Sometimes, children with Hirschsprung disease are unable to control their bowel movements. If this occurs, we have a bowel management program to help the child prevent accidents and stay clean.

Long Term Outcomes

Long Term Outcomes for Hirschsprung Disease

Children with Hirschsprung Disease will be followed closely throughout childhood and adolescence. Some will be followed into adulthood. Many children will have some degree of bowel dysfunction. At the Primary Children’s Colorectal Center, we address ongoing problems and coordinate care between specialists to manage your child’s needs. We provide a Bowel Management Program where we work closely with you and your child to assess function and provide a way for your child to have regular bowel movements and prevent stool accidents.