Digestive and Gastrointestinal Conditions

Hirschsprung Disease

What is Hirschsprung disease?

Hirschsprung (HIRSH-sproong) disease is a problem in the intestines that keeps stool (feces) from moving forward.

Healthy intestines squeeze with a wave-like motion to move stool along the digestive tract. Special nerve cells (ganglion cells) help the intestines make this motion. In children with Hirschsprung disease, these nerve cells are missing. Most often, ganglion cells are missing from the end of the large intestine (colon) or the rectum, where stool collects before leaving the body through the anus. In very rare cases, ganglion cells may be missing from part of the small intestine too.

Where ganglion cells are missing, the intestine squeezes shut and stool stops moving. Your child can have ongoing constipation, or their intestines can get blocked completely (obstructed).

Hirschsprung disease increases your child’s risk for an infection in the colon called enterocolitis. The infection can be very serious. Enterocolitis can be treated, but it can threaten your child’s life if it is not treated the right way.

Hirschsprung Disease at Seattle Children’s

Because Hirschsprung disease is rare, most doctors see only 1 child with this condition in their lifetime. Seattle Children’s treats many children with Hirschsprung disease each year. We see patients from newborns to young adults and can provide all aspects of your child’s care. We also provide second opinions.

  • Care for Hirschsprung disease requires expertise to diagnose the condition, perform delicate surgery and keep your child healthy for life. Seattle Children’s has this expertise.

    Your child will receive care from an expert on our Reconstructive Pelvic Medicine (RPM) team. RPM brings together providers from many areas of healthcare to treat your whole child. Most children start by seeing a surgeon who is experienced with repairing the intestines so stool can pass. Based on your child’s needs, the surgeon will involve other specialists, like a gastroenterologist or urologist.

    Each child’s case is unique. Team members partner closely with each other and with you to develop the best treatment plan for your child. The team includes an expert from our Motility Program as well as Dr. Raj Kapur, who is a world leader in research on Hirschsprung disease. Seattle Children’s is also part of the Hirschsprung Disease Research Collaborative.

  • At Seattle Children’s, we see patients from birth through young adulthood. Many of our patients with Hirschsprung first come to us as newborns. Often, they are referred from their birth center because they have Hirschsprung symptoms. Sometimes, they are brought to our Level IV Neonatal Intensive Care Unit (NICU) because their intestine is blocked. Seattle Children’s had the first Level IV NICU in Washington.

    We also see babies and children at any age who:

    • Haven’t been diagnosed but have symptoms that aren’t getting better with care from their regular doctor (pediatrician)
    • Have been diagnosed with Hirschsprung and need surgery
    • Had Hirschsprung surgery somewhere else and have moved to the Northwest, want to change doctors or want a second opinion about the best treatment for them

  • Surgery may improve your child’s bowel movements or even make their bowel movements normal. But it doesn’t cure Hirschsprung disease, and most children will have some bowel problems off and on. Seattle Children’s provides follow-up care to monitor your child’s health, prevent problems, manage symptoms and give your child the best quality of life.

    For children with Hirschsprung, issues like constipation are not treated the same as for children without this condition. This is why it’s important to get long-term care from a team of experts dedicated to giving your child the best possible care.

    We understand how a child might feel about dealing with Hirschsprung disease or related problems, and we are careful to take your child’s feelings into account.

    For support, you have access to social workers, child life specialists and many others. The RPM Clinic offers a 1-week Bowel Management Treatment Program for children who are old enough for toilet training and have trouble with bowel control after surgery.

Hirschsprung Disease in Children

This disease is congenital, which means a child is born with it. Certain forms of the disease can be passed from parent to child in the genes. But it’s not common for more than 1 family member to have it.

The condition affects about 1 in 5,000 children. In about half of these children, doctors diagnose the condition soon after birth. Most other children with Hirschsprung disease are diagnosed by the time they are 1 year old. Rarely, the condition is diagnosed later.

Symptoms of Hirschsprung Disease

  • If your baby has Hirschsprung disease, they may have 1 or more of these symptoms just after birth:

    • No stool passed within the first day or 2 after birth
    • Swollen belly (abdomen) from gas
    • Vomiting, which may be yellow or greenish

  • Babies with an infection in the large intestine (enterocolitis) may become very ill. They may be very sleepy or not very active and may have some or all of these symptoms:

    • Fever
    • Swollen belly
    • Watery or bloody diarrhea

    If your baby has been diagnosed with Hirschsprung disease and has any of these symptoms, get medical help right away.

  • Older babies and children with Hirschsprung disease may have problems with constipation that do not improve much after using routine treatments. Soft or loose stool may leak around hard stool that is trapped in the colon, soiling your child’s diaper or underwear (fecal incontinence). It may seem like diarrhea, but it has more to do with being constipated.

    In addition, older children may have:

    • Diarrhea
    • A lack of red blood cells, called anemia, because blood is lost in their stool
    • Slower physical growth and development than usual

Diagnosing Hirschsprung Disease

X-rays

If your child has symptoms of Hirschsprung disease, the doctor will take X-rays to see what the intestines look like. Your child may need:

Rectal biopsy

Doctors may need to take a small sample of tissue from the rectum to tell for sure if your child has Hirschsprung disease. This is called a rectal biopsy. They look at the tissue sample under a microscope to see if it has ganglion cells.

Anorectal manometry

Sometimes doctors also use a test called anorectal manometry. During this test, the doctor inflates a small balloon inside the rectum that senses how the nerves and muscles work.

Treating Hirschsprung Disease

Children with Hirschsprung disease need surgery, regular follow-up visits and sometimes other treatment. At Seattle Children’s, our surgeons partner closely with other experts from Reconstructive Pelvic Medicine to provide all the care your child needs.

  • To treat Hirschsprung disease, surgeons remove the segment of intestine that does not have special nerve cells called ganglion cells. This always includes the rectum, and it may include part of the colon. Then the surgeon connects the remaining intestine to your child’s anus. This surgery is called a pull-through.

    There are several ways to do a pull-through. The main ways are called the Swenson, Soave and Duhamel procedures. They differ in how much of the intestine surgeons remove and how surgeons connect the remaining intestine to the anus. There is no evidence that one procedure is better than the others.

    Also, there are different ways for surgeons to reach the intestines:

    • Through small “keyhole” incisions in the belly (laparoscopic surgery)
    • Through a single larger incision (open surgery)
    • Through the child’s anus (transanal pull-through)

    Your child’s team will talk with you about what they recommend. You and your child’s surgeon will decide which surgery is right for your child. Your child will get medicine to make them sleep without pain during surgery (general anesthesia).

  • Many babies have surgery for Hirschsprung disease soon after birth. But some children need another operation first if they are very ill with an infection in the intestines (enterocolitis) or if the intestines are very stretched out from being blocked. This operation is called an ostomy.

    Surgeons make an opening, or stoma, in the belly. Then they cut through the intestines and attach the end of the intestines to the opening. This lets stool (feces) pass to a pouch attached on the outside of the body, which helps the intestines heal.

    If your child needs this, you will get step-by-step details about how to care for the stoma and change the pouch. The ostomy is temporary. In a few months to a year, the intestines will recover. Then your child’s surgeon will do one of the operations to connect the intestines to the anus.

  • After surgery for Hirschsprung disease, we will give your child pain medicine to make them comfortable. It’s likely they will also have:

    • An IV (intravenous) line that goes into a vein to provide fluids.
    • A tube that passes through the nose into the stomach (nasogastric tube, or NG tube). This keeps their stomach empty until gas and stool can pass through the intestines.

    You can expect your child to be in the hospital for 3 to 5 days after surgery. Your child will stay in the hospital until they can eat well, they have a bowel movement and they have no fever or other signs of problems. Some children need to stay longer based on their health and the extent of their surgery.

    The surgery team will teach you what to do when your child goes home, such as how to care for incisions, how to feed and bathe your child, whether to limit your child’s activity for a while and what to watch for.

  • After healing from surgery, your child’s bowel movements may become normal. But surgery doesn’t cure Hirschsprung disease. Some children will have bowel problems – like constipation or fecal incontinence (“accidents”) – off and on throughout their lives. Ongoing care from an expert team can help with these problems.

    Sometimes, these issues occur when babies start eating solid food, when older children add foods that are harder to digest or when children resist going to the bathroom because they are distracted by other activities. There’s also some risk of enterocolitis, even after surgery.

  • The team at Seattle Children’s works to monitor and treat problems related to Hirschsprung disease in babies, children, teens and young adults even after surgery. Our goal is to follow your child until they reach college age to help ensure they are healthy and living to their full potential.

    Your child will need to come back for follow-up visits on a regular basis to check their health. If your child is doing well, these visits may happen only once a year. If your child is having any bowel problems, we may see them more often for a while to provide treatment.

  • For bowel problems that might happen after surgery, we offer a range of treatment options, including:

    • Using medicines and changing your child’s diet, activity level and toilet habits to reduce constipation and incontinence
    • Having an internal anal sphincter Botox injection
    • Taking part in our 1-week Bowel Management Treatment Program
    • Having another surgery to remove intestine that isn’t moving stool

    Any treatment will be tailored to your child’s and family’s needs.

Contact Us

Call our Reconstructive Pelvic Medicine Program at 206-987-6683 to request an appointment, a second opinion or more information.