November 17, 2009

Hirschsprung's Disease

Hirschsprung's (say: "hersh-sprungz") disease is a birth defect that affects the large intestine (bowel). Normally, nerve cells called ganglion (say: "gang-glee-on") cells stimulate muscles in the intestine to push stools through the intestine and out of the body. A child born with Hirschsprung's disease is missing these nerve cells in a part of the intestine. As a result, stools do not move properly through the intestine and severe constipation and even bacterial infection can develop. Sometimes the ganglion cells are missing from just a small part of the large intestine near the anus. Other times, the cells may be missing from a large part of the large intestine.

What causes Hirschsprung's disease?

As a baby grows in the womb, the ganglion cells grow from the top of the intestine to the anus. When a baby has Hirschsprung's disease, these nerve cells don't grow all the way to the anus. Doctor's don't know why the nerve cells stop growing, but it isn't caused by anything the mother did or ate while she was pregnant.

Hirschsprung's disease can be hereditary, meaning a parent could pass it on to a child. Children with Down syndrome are at a higher risk of having Hirschsprung's disease. The disease, which affects about 1 in every 5,000 newborns, is five times more frequent in males than in females.

What are the symptoms of Hirschsprung's disease?

Hirschsprung's disease is usually diagnosed shortly after birth, but in some milder cases, symptoms don't develop until later in life. You or your doctor may notice that your newborn did not pass the first bowel movement, called the meconium, in the first 24 to 48 hours after birth. Your newborn may also have some or all of the following symptoms:
  • Constipation or gas, which may make your baby fussy
  • Poor appetite
  • Vomiting bile (a green liquid) after eating
  • Diarrhea
Symptoms in older children include the following:
  • Chronic constipation
  • Lack of weight gain or growth
  • Swollen abdomen
  • Ribbon-like, foul-smelling stools
  • Anemia (which is a low number of red blood cells)
  • Frequent colon infections

How can my doctor tell if my baby has Hirschsprung's disease?

If your child exhibits symptoms of Hirschsprung's disease, your doctor may give your child several special tests. Your doctor may take an X-ray of your child's abdomen or give your child a barium enema to look for signs of Hirschsprung's disease. Your doctor may also take a sample of tissue (called a biopsy) from your child's rectum and examine it for missing ganglion cells.

How is Hirschsprung's disease treated?

Surgery is the only proven way to treat Hirschsprung's disease. The surgeon will remove the part of the intestine that is missing the ganglion cells and reattach the healthy intestine to the anus. After your child heals, he or she will have a functioning intestine.

For children who have been very ill, two surgeries may be needed. In the first surgery, called a colostomy, the surgeon will remove the area of the intestine that is missing the ganglion cells. The surgeon then creates a small hole (called a stoma) in your child's abdomen. The top part of the intestine is then attached to the stoma. For a while, stool leaves the body into a collection bag attached to the stoma while the rest of the intestine heals. In a second operation, the surgeon will connect the healed intestine to the anus and sew the stoma closed.

What will my child's life be like after surgery?

Most children have normal lives after surgery. Some children may have diarrhea. Other children may have problems passing stools. Eating foods that are high in fiber can help reduce constipation.

Some children develop infections in their bowels after surgery. These infections can be serious, so call your doctor immediatetly if your child develops the following symptoms:
  • Vomiting
  • Fever
  • Swollen abdomen
  • Fatigue or sluggishness
  • Blood in the stool
The large intestine collects water and salt that the body needs. If your child has a large portion of the intestine removed, it will absorb less. Your child will need to eat and drink more to make sure his of her body gets enough fluids.

Adapted from:
American Academy of Family Physicians