What Is Hirschsprung Disease?
Hirschsprung 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 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 one family member to have it.
The condition affects about one in 5,000 children. In about half of these children, doctors diagnose the condition soon after birth. Most other children with Hirschsrpung 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 one or more of these symptoms just after birth:
- No stool passed within the first day or two 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:
- 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:
- A lack of red blood cells, called anemia, because blood is lost in their stool
- Slower physical growth and development than usual
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:
- A regular X-ray
- A contrast enema (PDF).
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.
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.
Surgery for Hirschsprung Disease
Surgeons remove the segment of intestine that does not have 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 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.
Source and more information go to: Seattlechildrens.org