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Hirschsprung's Disease

  • Hirschsprung's disease occurs when some of your baby’s intestinal nerve cells don’t develop properly, leading to an obstruction of the intestine.

    • As food is digested, muscles move food forward through the intestines in a movement called peristalsis.

    • When we eat, nerve cells that are present in the wall of the intestines receive signals from the brain telling the intestinal muscles to move food forward.

    • In children with Hirschsprung's disease, a lack of nerve cells in part of the intestine interrupts the signal from the brain and prevents peristalsis in that segment of the intestine.

    • Because stool cannot move forward normally, the intestine can become partially or completely obstructed, and it begins to expand.

    This same obstructed intestine is prone to the development of a serious infection, enterocolitis, which causes a child to have a fever, pain and diarrhea.

    • The problems a child will experience with Hirschsprung's disease depend on how much of the intestine has normal nerve cells.
      • Seventy percent of babies with Hirschsprung's disease are missing nerve cells in only a portion of the last one to two feet of their large intestines.

    Hirschsprung's disease causes 15 to 20 percent of intestinal obstructions that occur in newborns.

    Less pain, faster recovery

    Standard surgical treatment of Hirschsprung’s disease requires two surgeries: the first to place your child’s temporary colostomy, the second to pull the patient’s functioning colon through to the anorectum. However, due to advances is minimally invasive surgery, surgeons at Boston Children's Hospital frequently can perform a single-stage operation. Sometimes, a colostomy can be avoided all together and the minimally invasive technique means that your child will recover more quickly from the surgery.

    Boston Children's Hospital
    300 Longwood Avenue
    Boston MA 02115

     617-355-6058

  • What causes Hirschsprung's disease?
    Scientists are not sure why the intestinal nerve cells do not form completely.

    • Nothing has been shown to cause this problem, including medications a mother takes while pregnant or what a mother eats during pregnancy.

    • Genetic factors likely play a role in Hirschsprung's Disease, especially when longer lengths of intestine are involved.

      • If a family has a child with Hirschsprung's disease, there is a 3 to 12 percent chance that another baby from the same parents will also have the disease.

      • There is an increased chance that a couple will have a child with Hirschsprung's disease if one of the parents has the disease.

      • The chances are higher if the mother is the parent with Hirschsprung's disease.

    How often does Hirschsprung's disease occur?

    Hirschsprung's disease occurs in one out of every 5,000 babies.

    Who is at risk for Hirschsprung's disease?

    Hirschsprung's disease occurs five times more frequently in boys than in girls.

    What kind of problems might my child have?

    Because a segment of the intestine lacks normal nerve cells, digested food and stool cannot move forward through that portion of the digestive tract.

    The intestine becomes blocked with stool, and your baby will be constipated (unable to have normal bowel movements). The obstruction causes pressure on the inside of the intestine, causing part of the intestinal wall to wear thin. Eventually, a bacterial infection can develop in the digestive tract, causing serious problems.

    What are the symptoms of Hirschsprung's disease?

    Eighty percent of children with Hirschsprung's disease show symptoms in the first six weeks of life.

    • Children who only have a short segment of intestine that lacks normal nerve cells may not show symptoms for several months or years.

    Each child may experience symptoms differently, but here’s a list of the most common ones:

    • failure to have bowel movement in the first 48 hours of life
    • gradual bloating of the abdomen
    • gradual onset of vomiting
    • fever

    Children who don’t have early symptoms may also have the following symptoms:

    • constipation that becomes worse with time
    • loss of appetite
    • delayed growth
    • passing small, watery stools
  • How is Hirschsprung's disease diagnosed?

    Your child’s physician will do an exam and then some or all of the following tests:

    • Abdominal x-ray — This can show a lack of stool in your child’s large intestine or near the anus as well swollen segments of the large and small intestine.
    • Barium enema — A procedure performed to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an x-ray) is given into the rectum as an enema.
      • This results in a clearer x-ray and gives your child’s doctor a better picture of what’s going on.
    • Anorectal manometry — A test that measures nerve reflexes. Since it’s the nerves that are affected in Hirschsprung's disease, this test will alert your child’s doctor to the possible presence of the disease.
    • Biopsy of the rectum or large intestine — Your child’s doctor takes a sample of the cells in your child’s rectum or large intestine and looks at them under a microscope.
  • What's the treatment for Hirschsprung's disease?

    Your child will probably need an operation to fix his intestinal obstruction caused by Hirschsprung's disease.

    Here's how it works

    The surgeon removes the portion of your child's rectum and intestine that lacks normal nerve cells. A colostomy is done so stool can leave his body. With a colostomy, the upper end of the intestine is brought through an opening in the abdomen known as a stoma. Stool will pass through the opening and then into a collection bag. The colostomy will be temporary and it is typically removed at the time of a formal "pull-through" operation when intestine with normal nerve cells is connected to the anorectum.

    Due to advances is minimally invasive surgery, surgeons at Children's frequently will do a single-stage operation at the time that Hirschsprung's disease is initially diagnosed. If you child can have this surgery, he won't need a colostomy and the minimally invasive technique means that your child will have a faster recovery.

    Will my child have problems in the future?

    Problems often depend on the amount of your child's intestine that lacked nerve cells, and how much intestine needed to be removed. Children who are able to have their colostomy closed may have temporary or intermittent problems, including the following:

    • Stools may be frequent and loose at first. Cleaning the anal area carefully to remove stool, and applying diaper rash creams or lotions may prevent skin irritation.
    • Children may have problems sensing the need to have a bowel movement. Since the urge to have a bowel movement is greater after eating, setting aside 10 minutes after meals to spend on the toilet may help.
    • Some children have problems with bowel movements because the anal opening is tight, and this can be helped by a special technique called rectal dilation. Your child's physician can teach you this technique if it is appropriate for your child.

    Children who have a large section of intestine removed may have long-term digestive problems.

    • Nutrients and fluids are absorbed from food in the small intestine.
    • Removing a large segment of the intestine can prevent a child from getting adequate nutrients and fluids.
    • Children can have problems with improper digestion, slow growth and infection.
  • Omegaven saves livers

    Many children who have complex intestinal surgery can’t eat normally for a long time. These children are usually placed on an intravenous method of feeding called pareneteral nutrition (PN).

    • PN provides the necessary nutrition for children until their digestive systems adapt and they can eat on their own.

     

    Back in 2001, Children’s surgeon Mark Puder, MD, surgical resident Jenna Garza, MD, and pharmacist Kathy Gura, PharmD, decided to conduct studies in mice to see why PN was causing liver disease.

    • They found evidence that the fat used in standard PN solutions, called Intralipid, was contributing to liver disease by causing fat to accumulate in the liver.

    They then tested Omegaven, an IV fat mixture made from fish oil. Fish oil contains omega-3 fatty acids, which have been shown to prevent fat accumulation and have anti-inflammatory properties.

    • As they had hoped, PN using Omegaven as the fat prevented liver injury in the mice.

    Surgeon Rusty Jennings, MD had heard of Puder's research and wanted to try Omegaven in one of his patient. Since Omegaven wasn't approved for use in the United States, Puder had to receive special permission from the FDA to use Omegaven rather than Intralipid in his PN solution.

    • Within eight weeks, the baby's liver function improved so much that he was removed from the liver transplant list.

    Puder later treated a second child, a premature baby whose bowel had ruptured; he too had complete resolution of liver disease. Now, more than 100 children at Children’s have received Omegaven.

    Puder and colleagues are now conducting a formal clinical trial aimed at preventing liver disease in PN recipients.

    • Their work has caused a worldwide shift in treatment.
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