Hirschsprung disease

• Hirschsprung disease is a rare birth defect. It affects the nerve cells in the large intestine.
• Children with this disorder are missing nerve cells in all or part of the large intestine.
• Without these nerve cells, stool can’t move forward through the large intestine. This can cause constipation, swelling, pain and infection.
• Most children with Hirschsprung disease show symptoms in the first few weeks of life.
• Hirschsprung disease is treated with surgery.

What is Hirschsprung disease?

Hirschsprung disease is a rare birth defect. It affects the nerve cells in the large intestine. These nerve cells control the muscles that move food and waste, or stool, through the large intestine. The large intestine is the last part of the digestive tract.

Babies with Hirschsprung disease are missing nerve cells in all or part of the large intestine. In most cases, only the end parts of the colon are affected. Without these nerve cells, the muscles can’t move food and waste through that part of the large intestine. Stool can’t move forward. It stays in the large intestine.

The intestine can become partly or fully blocked. It begins to grow larger than normal. This can cause constipation, swelling, pain and infection.

What causes Hirschsprung disease in children?

During pregnancy, a baby’s nerve cells form along the intestines. They begin in the mouth and end in the anus. In babies with Hirschsprung disease, the nerve cells don’t grow past a certain part of the large intestine. Experts don’t know why this happens.

Which children are at risk for Hirschsprung disease?

A child is more at risk for Hirschsprung disease if there is a family history of the disorder. Some genetic syndromes, such as Down syndrome, are also linked with the disorder.

Boys are more likely to have Hirschsprung disease than girls.

What are the symptoms of Hirschsprung disease?

Most babies with Hirschsprung disease have symptoms in the first few weeks of life. In some cases, only a short part of the intestine may be affected. Some children may not show symptoms for up to several months while others become ill very quickly.

Each child’s symptoms may vary. Symptoms in newborns may include:

• Not having a bowel movement in the first 48 hours of life
• Slow swelling or bloating of the belly
• Vomiting green or brown fluid
• Fever
• Diarrhea (enterocolitis)

Children who don’t show early symptoms may also have:

• Constipation that gets worse over time
• Loss of appetite
• Slow or delayed growth
• Small, watery, bloody stools
• Loss of energy

Symptoms in older children include:

• Sepsis
• Severe Constipation
• Loose and watery stools (enterocolitis)
• Loss of appetite
• Delayed growth (failure to thrive)

Symptoms of Hirschsprung disease may seem like other health problems. See your child’s health care provider for a diagnosis.

How is Hirschsprung disease diagnosed in children?

Your child’s health care provider will do an exam and take a health history. The provider will ask questions about constipation and bowel movements. Other tests may be done to find out if your child has Hirschsprung disease. These tests may include:

• Abdominal X-ray. This test may show a lack of stool in the large intestine or near the anus. It can also show if part of the large intestine is bulging. The bulging is caused by blocked stool.
• Barium enema. This X-ray exam checks the large intestine for any problems. Your child is given a metallic fluid called barium. Barium coats the organs so they can be seen on an X-ray. The barium is put into a tube and inserted into your child’s rectum as an enema. An X-ray of the belly will show any narrowed areas or any blockages. It will also show if the intestine is bulging above a blockage.
• Anorectal manometry. This test is most often used for older children. A small tube is put into the rectum to check how well the rectal muscles are working. If the muscles don’t relax, it may be a sign of Hirschsprung disease.
• Biopsy of the rectum or large intestine. A tiny piece of the large intestine is removed. It is checked under a microscope to see if any nerve cells are missing.

How is Hirschsprung disease treated in a child?

Treatment will depend on your child’s symptoms, age and general health. It will also depend on how severe the condition is.

Surgery

The majority of patient withHirschsprung disease are treated with surgery called a pull-through procedure. A surgeon removes the part of the large intestine that lacks nerve cells. When possible, the healthy part that is left is connected to the anal opening.

In some cases, surgery may be done in two stages. A child who is very sick from Hirschsprung disease may first need ostomy surgery. This can help the child heal before the pull-through surgery. With ostomy surgery, the diseased part of the large intestine is removed. The end of the healthy intestine is moved to an opening made in the belly. This opening is called a stoma. Stool passes through the stoma and into a bag worn outside the body. The bag must be emptied several times a day.

In most cases, the ostomy is temporary, but sometimes children with Hirschsprung disease must have a permanent ostomy depending on how much of the intestine must be removed.

What does the recovery process from Hirschprung disease in children entail?

After surgery your child will likely stay in the hospital for approximately two to seven days. Some children may need to stay longer depending on the severity of their condition. During this time, your child will need plenty of rest and will be given an IV to help stay hydrated.

Prior to leaving the hospital, your medical team will help advise you on how to care for your child once they are home. They will instruct you on how to keep abdominal incisions clean and dry. Because they will be passing stool several times a day, the skin around your child’s anus will require special care to keep it from becoming irritated.

Enterocolitis

Some patients may develop enterocolitis, which is an intestinal infection that can cause severe diarrhea. Enterocolitis can occur prior to or after surgery and are treated with bowel irrigations and antibiotics.

What are possible complications of Hirschsprung disease in a child?

In Hirschsprung disease, a part of the large intestine lacks normal nerve cells. This means that digested food and stool can’t move forward through that part of the digestive tract. The large intestine becomes blocked with stool. Your baby will be constipated, or unable to have normal bowel movements.

The blockage creates pressure on the inside of the intestine. This causes part of the intestinal wall to wear thin. Over time, a bacterial infection called enterocolitis can develop in the digestive tract. This is very serious. Symptoms of enterocolitis include:

• Fever
• Swollen belly
• Belly pain
• Vomiting
• Diarrhea
• Bleeding from the rectum
• Lack of energy

How can I help my child live with Hirschsprung’s disease?

Your child’s bowel function may be affected after the operation. The most common long-term issues are stool leakage, constipation, and infections.

The problems that may occur after the operation depend on the amount of missing nerve cells in the intestine and how much was removed.

Children who have had a stoma closure may experience short-term issues after the closure, including:

• Initially, stools may be frequent and loose. To prevent skin irritation, try to clean the anal area thoroughly to remove stool. Also, try using diaper rash creams or lotions,
• Children may have difficulty sensing the need to have a bowel movement. The urge to go to the toilet is stronger after eating. It may be helpful to ask your child to spend 10 minutes on the toilet after meals.
• Some children have difficulty passing stool because the anal opening is too narrow. A special method called rectal dilation can help. Your child’s doctor can teach you this method if it’s appropriate for your child.

Children who have had a large portion of the intestine removed may have long-term problems. The digestion process can be affected. Nutrients and fluids are absorbed in the small intestine. Removing a large part of the intestine can prevent the child from receiving sufficient nutrients and fluids. Children may have problems with poor digestion, slow growth, and infection. Your child may need to eat and drink more to get enough nutrients and fluids.

Discuss your child’s specific situation with their doctor.