Hirschsprung Disease
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Hirschsprung’s Disease

What Is Hirschsprung’s Disease?

Hirschsprung’s disease is a condition that can affect newborn children’s colons. It’s a congenital disease, which means babies are born with it. It’s marked by weakness in the large intestine. This weakness can lead to an inability to pass stool properly, causing a blockage. This condition is present in about one in every 5,000 live births. Hirschsprung’s disease is usually treated successfully with surgery.

What Are the Symptoms of Hirschsprung’s Disease?

Symptoms

Symptoms in Infants

According to the Cincinnati Children’s Hospital Medical Center, symptoms appear during the first six weeks after birth in 80 percent of children who have this condition. The symptoms in newborns typically start within 48 hours after birth. These include:

  • not having a bowel movement within 48 hours after birth
  • green or brown vomit
  • abdominal swelling
  • being very gassy
  • diarrhea, which may be bloody
  • infrequent and explosive stools

Symptoms in Toddlers and Older Children

If a shorter section of their intestine is affected, symptoms generally won’t appear until several months or even years later. Common symptoms include:

  • needing to use laxatives to loosen stool or enemas to stimulate bowel movements
  • abdominal swelling
  • a delayed increase in height
  • a delayed increase in weight
  • anemia, which is a condition that causes low energy levels due to a shortage of red blood cells
  • feeling gassy

How Your Child May Have Gotten Hirschsprung’s Disease

Causes

The exact cause of Hirschsprung’s disease is unknown. It develops when the nerve cells around your child’s colon don’t fully form. This can affect a long portion of their colon or a very small part of it. Either way, when this happens, digested food and stool can’t be pushed through these areas. This causes a blockage of stool in your child’s intestine. Your child won’t be able to have regular bowel movements due to this obstruction. It can also cause their intestinal wall in this area to become thin, which can lead to a serious bacterial infection.

Is My Child at Risk for Hirschsprung’s Disease?

Risk Factors

Hirschsprung’s disease is more common in boys than girls. It’s also more likely to occur in children with Down syndrome and some other inherited conditions. If you already have one child with the condition, your future children have a higher chance of having it too.

Your child also has an increased risk of having this condition if one parent has it, especially when their mother is a carrier.

What Tests Does My Child Need?

Diagnosis

Your child’s doctor will use one or more of the following tests to check for Hirschsprung’s disease:

  • An abdominal X-ray can show a widened area of your child’s colon, or a section with less air in it, which results from a buildup of stool.
  • A manometry test involves inflating a balloon in your child’s rectum to see if their muscles respond normally by relaxing. This is usually done in older children.
  • An X-ray with a contrast dye can show a clear silhouette of your child’s rectum and colon.
  • A biopsy involves taking a tissue sample from your child’s colon for pathology testing.

How Is Hirschsprung’s Disease Treated?

Treatment

Surgery

Hirschsprung’s disease is treated with surgery. Your child’s surgeon will remove the portion of their colon containing the defective nerve cells. Then, they will reattach your child’s rectum to the healthy portion of their colon. This makes it possible for your child to pass stool in a normal manner. In milder cases, this can be done in one operation. Usually, a colostomy is needed as well. This is considered a separate surgical procedure.

Colostomy

If your child’s condition is serious, a colostomy will be used to give the lower part of their colon time to heal after the abnormal section is removed. This involves making a tiny hole called a stoma in their abdomen and attaching the upper part of their colon to it. Your child’s stool will leave through the stoma and enter a collection bag, which has to be changed several times each day.

Depending on the length of your child’s removed intestine, the stoma may be permanent. However, in most cases the stoma can be surgically closed, and their colon can be surgically joined to their rectum.

Risks from Surgery

Your child could develop a serious condition called enterocolitis after surgery. When this happens, their colon becomes inflamed. Watch for signs of this condition, and call your child’s doctor right away if any occur. These symptoms include:

  • rectal bleeding
  • a fever
  • diarrhea
  • abdominal swelling
  • vomiting

Post-Surgical Care

If your child is constipated after surgery, you can help ease this condition. Make sure your child drinks plenty of water to avoid dehydration. If your afflicted child is old enough to already be on a full-solid diet, offer your child foods that are high in fiber, such as whole grains and vegetables. You should add these to your child’s diet slowly, since eating a lot of fiber suddenly could make constipation worse. Your child can also take laxatives with their doctor’s permission.

What Is the Long-Term Outlook for People with Hirschsprung’s Disease?

Outlook

Your child’s symptoms should be gone after recovery from surgery, especially if it’s done early or the abnormal colon segment is shorter. Your child might have constipation, loose stools, or trouble recognizing the urge to pass stools after surgery.

If their removed colon segment was longer, your child might have digestive problems or difficulty getting enough nutrients. These can be long-term effects and can lead to slow growth or infections. Your child’s doctor can help determine dietary and prescription treatments to help minimize these potential long-term consequences.

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