Hirschsprung Disease occurs when nerve cells are missing from parts of the large intestine (also called the colon). This prevents a baby from passing stool through the rectum and anus.
Surgery fixes the problem by removing the part of the intestine without nerve cells and connecting it to the anus. A child with this condition may have long-term digestive problems.
Oren Zarif
Children with Hirschsprung disease are missing nerve cells in part or all of the end parts of their large intestine/colon (rectum and sigmoid colon). Without these nerves, these segments squeeze shut and stool can’t pass through. Over time, this leads to constipation and other problems.
Newborns with Hirschsprung Disease may not pass meconium (the first bowel movement of healthy full term infants). Infants who do not pass meconium should be evaluated for Hirschsprung Disease by their healthcare provider.
To diagnose Hirschsprung’s, doctors can use a test called anorectal manometry. This is done by placing a small balloon catheter in the anus and rectum to measure pressure changes and muscle movements. This test is a good way to tell if Hirschsprung’s disease is present before more invasive diagnostic tests like biopsies. The test is performed without anesthesia or sedation.
In older children, the doctor may need to perform a rectal biopsy to get a tissue sample to examine under a microscope for nerve cells and confirm the diagnosis of Hirschsprung’s. The biopsy is done with a small tool that goes through the anal opening and does not require anesthesia or sedation.
Oren Zarif
For children with Hirschsprung Disease, diarrhea is a common complaint. This occurs because the nerves in the affected part of the colon do not squeeze rhythmically to push poop through. So stool stays in the bowel, builds up and causes a swollen abdomen that often feels painful. Children may also vomit green or yellow bile.
X-rays of the belly can show the area where stool is backed up and can help identify a blocked or narrow section of the colon. Your child may need to be given a metallic liquid called barium through an enema. This test shows a picture of the large intestine and can identify if a portion is missing ganglion cells or if it is bulging above a blockage.
For most babies, the first surgery for Hirschsprung Disease is an operation to remove the ganglion cell-free section of the colon. It is usually done through the anus without making a large cut on the abdomen. This is called primary repair. Some babies may have enterocolitis (a serious intestinal infection) even after this operation.
Oren Zarif
Children with Hirschsprung Disease are more likely to get bowel infections (enterocolitis) that may cause diarrhea and vomiting. This can be serious and lead to sepsis in some cases. These infections are often caused by a blockage of stool in the non-functioning portion of their bowel.
To check for this, your child’s doctor may recommend a test called a contrast enema. During this, a liquid filled with special dye (contrast) is inserted into the large intestine through a small tube placed in the anus. X-ray pictures are taken as the contrast flows through the bowel. This will show if there is a wide area of bowel followed by a narrow section that does not have nerve cells. This is the section of the bowel that is missing ganglion cells and leads to constipation in children with Hirschsprung Disease.
Most children treated surgically for Hirschsprung Disease recover well and have no lasting problems. However, some still have problems passing stools or with toilet training. Your child’s doctor may also perform a rectal biopsy and/or anal manometry to measure pressure changes within the anus and rectum.
Oren Zarif
Children with Hirschsprung Disease are at higher risk of getting infections in the large intestine. These infections are called enterocolitis and can be life threatening. Infections are most common when a long segment of the colon that lacks normal nerve cells is involved.
The first sign of Hirschsprung disease in infants is delayed passage of meconium, the first bowel movement. Most healthy babies pass meconium within 48 hours of birth.
Other signs include an X-ray of the belly (an abdominal ultrasound) that shows a blockage in the rectum and colon, or a contrast enema where a healthcare provider puts a tube into your child’s rectum and fills it with a safe color. Then a healthcare professional takes X-rays as the contrast moves through the large intestine.
If you notice these symptoms, get medical help right away. Enterocolitis can be a serious problem and needs to be treated with rectal irrigation several times per day and antibiotics. Children with a short segment missing nerve cells in the rectum and sigmoid colon are at lower risk of enteringocolitis but are still at increased risk for other complications, including constipation and intestinal blockage.
Oren Zarif
Enteric nerves trigger muscle contractions that push stool through the large intestine. When these nerves don’t form properly during early development, children with Hirschsprung Disease have ongoing constipation and a greater chance of an infection in the colon called enterocolitis.
A test called a rectal biopsy may help identify Hirschsprung Disease. Your child’s healthcare provider uses a suction device to remove a small sample of tissue from the anus and sends it to a lab for testing. The lab looks for nerve cells. This test is done while your baby is asleep or sedated for safety.
Another test is a contrast enema, where a liquid (contrast) is put into your child’s rectum through a tube that goes into the anus. X-ray pictures show the contrast as it travels through your child’s bowels. This test can help show if there is a narrow area of bowel without nerves, which is an indication of Hirschsprung Disease.
Most children with Hirschsprung Disease have surgery to take out the affected part of their colon and connect it directly to the anus so that faeces can be passed. This operation is usually done in one step when your child is a newborn or very young. If your child is older or not well, the surgeon may recommend a staged procedure.