Hirschsprung Disease

Hirschsprung disease is a rare condition that affects the large intestine (colon) and can cause constipation. The colon is the last part of the gastrointestinal tract. It functions to absorb fluids and hold stool so that it can be passed out of the body with contractions. In Hirschsprung disease, the colon is missing the nerve cells that control contractions, and the body is unable to move stool out through the rectum normally. This condition is most commonly diagnosed at birth or shortly after.

Hirschsprung disease is a life-threatening disease and requires treatment. Hirschsprung-associated enterocolitis is a serious infection that can occur at anytime, including before or after being treated by surgery.

What are the causes?

The cause of this condition is not known, but it may be related to changes (mutations) in genes. It may run in families or be passed from parent to child (inherited). In children who have the disease, it is present from birth (congenital). It happens before birth when nerve cells in the colon stop growing while the colon is developing. Children who are diagnosed with Hirschsprung disease have other congenital conditions that are part of a syndrome. Down Syndrome is the most commonly associated syndrome.

What increases the risk?

• Is of Asian decent.
• Is male.
• Has a parent or sibling that has had Hirschsprung disease.

What are the signs or symptoms?

• Not having a bowel movement within two days after birth. This is one of the most common signs.
• Green or brown vomit.
• Watery stool (diarrhea), sometimes with blood.
• Swelling of the abdomen (distension).

• Constipation.
• Abdominal distension.
• Bloody diarrhea.
• Poor appetite.
• Failure to grow and gain weight.
• Lack of energy.

How is this diagnosed?

• Imaging. Your child may have an X-ray to check:
  • The colon. Dye is injected into the colon before the X-ray is done (barium enema).
  • The abdomen.
• Biopsy. A small tissue is removed from the colon and checked under a microscope.
• Anal manometry. This measures the pressure in the rectum, using a balloon that is inserted and then inflated in the rectum.

This condition cannot be diagnosed before birth.

How is this treated?

This condition is treated with surgery to remove the part of the colon that is missing nerve cells (pull-through procedure). In this procedure, the abnormal part of the colon is removed and the healthy end is pulled through and attached to the rectum.

• The abnormal part of the colon is removed and the healthy end is attached to an opening (stoma) in the abdomen. Sometimes the entire colon has to be removed.
• Stool will come through the stoma in the abdomen and collect in a pouch.
• When your child is ready, the opening may be closed and the pull-through procedure completed. Sometimes, the ostomy is permanent and the pull-through procedure is not done.

• Antibiotic medicines, if there is an infection.
• Fluids through an IV to prevent dehydration. The IV is inserted into a vein.
• Inserting a tube through the nose and down into the stomach (nasogastric tube, or NG tube). This removes stomach contents and air and can help to treat a blockage in the intestine.
• Nutrition. This may be given through an IV.

Follow these instructions at home:

Medicines

• Give over-the-counter and prescription medicines only as told by your child's health care provider.
• If your child was prescribed an antibiotic, give it as told by your child's health care provider. Do not stop giving the antibiotic even if your child starts to feel better.

General instructions

• Make sure that your child drinks enough fluid to keep his or her urine pale yellow. This helps to prevent dehydration.
• If your child is dehydrated, ask your child's health care provider for rehydration instructions. Signs of dehydration include:
  • Dry lips and mouth.
  • Thirst.
  • Dark urine.
• Keep all follow-up visits as told by your child's health care provider. This is important.

Where to find more information

• Genetic and Rare Diseases Information Center (GARD), https://rarediseases.info.nih.gov/

Contact a health care provider if:

• Your newborn has not had a bowel movement in 48 hours after birth.
• Your child has vomiting, constipation, or bloating in the abdomen.
• Your child has signs of dehydration, such as:
  • No urine in 8–12 hours for a child, and no wet diapers in 5–6 hours for an infant.
  • Dry mouth.
  • Sunken eyes.
  • Weakness.
  • Sleepiness.

Get help right away if:

• Your child has signs of enterocolitis. This is the most common and severe complication of Hirschsprung disease. Signs of enterocolitis include:
  • Diarrhea that is foul-smelling or bloody.
  • Diarrhea with explosive stool or gas.
  • A fever.
  • Pain and a tender or swollen belly.
  • A lack of energy.
  • Vomiting.

Summary

• Hirschsprung disease is a rare condition in which nerve cells that control squeezing movements (contractions) are missing from part of the large intestine (colon).
• In mild cases, the disease may not be noticed until later in childhood.
• This condition is treated with surgery to remove the part of the colon that is missing the nerve cells (pull-through procedure).
• Get help right away if your child has signs of enterocolitis, which include diarrhea with blood, fever, tender or swollen abdomen, or vomiting.