Hirschsprung’s disease is an intestinal disorder that may cause health problems such as abdominal distension and constipation. Hirschsprung’s disease is rare, occurring in an estimated 1 in 5,000 births. It is more common in males than in females.
The normal intestine (bowel) contains ganglion cells. These nerves trigger muscles in the intestine to contract (squeeze) and relax to move digested food through the intestines. This movement, called peristalsis, results in defecation (pooping).
Ganglion cells form during fetal development, between the fifth and 12th weeks of pregnancy, and are present in the entire digestive tract. Sometimes, for an unknown reason, ganglion cells fail to develop in the portion of the large intestine that descends toward the rectum. (The portion called the distal colon). This is called Hirschsprung’s disease, also referred to as congenital megacolon.
The large intestine is made up of three parts: ascending, transverse and sigmoid. The sigmoid portion connects to the rectum. In approximately 70 percent of cases of Hirschsprung’s disease, the ganglion cells stop developing in the sigmoid portion or in the rectum. In other cases, a much longer length or the entire large intestine and rectum lack ganglion cells.
Patients with Hirschsprung’s disease are unable to defecate because of the lack of ganglion cells. Newborns will often have abdominal distension (an enlarged abdomen), while older children may suffer from chronic constipation.
If left untreated, Hirschsprung’s disease can be life threatening.
Watch the video to learn more about our coordinated approach to caring for children with Hirschsprung's disease.
We do not know what causes Hirschsprung's disease. In some cases the disease may have a genetic link and be passed down through families. About 15 percent of patients with Hirschsprung’s disease also have Trisomy 21 (Down syndrome).
Diagnosis may include any of the following tests:
- Abdominal X-ray shows if the intestine is abnormally large (dilated).
- Contrast enema provides more detail on the size of the intestine and rectum. A doctor will put barium (a chalky X-ray dye that coats the intestine) or water-soluble contrast (X-ray dye) into the rectum and intestine through the anus. The doctor will take X-rays to see if the intestine is dilated and if there is an area where the size changes significantly. This procedure can be performed in the Radiology Department at CHOP. It is not painful, and no sedation is required.
- Manometry is another way to determine if your child has Hirschsprung’s disease. A doctor will place a small balloon catheter (tube) in the anus and rectum to measure pressure changes and muscle movements. If there is normal pressure and movement, the child probably does not have Hirschsprung’s disease, and the doctor will not have to perform more invasive diagnostic tests such as biopsies. Manometry does not require anesthesia or sedation.
- Suction rectal biopsy is performed to provide a more definitive diagnosis if the X-ray and contrast enema suggest Hirschsprung’s disease in an infant. A surgeon will place an instrument through the anus into the rectum and take tiny pieces of the intestinal mucosa (moist tissue that lines the intestines). The tissue samples will be examined under a microscope. If ganglion cells are not present, doctors will know for sure that the child has Hirschsprung’s disease. This procedure can be performed at the bedside, if your child is an inpatient, or it can be performed in the surgeon’s office. It is not painful, and no sedation is required.
- Full-thickness biopsy is performed if the suction rectal biopsy results are inconclusive or if your child is older. The patient will be placed under general anesthesia and the surgeon will take a thicker piece of intestinal tissue. The tissue sample will be examined under a microscope. This can be done for diagnosis or for planning before surgical treatments, so the doctor can determine where the ganglion cells stop in the intestine.
The Children’s Hospital of Philadelphia has a special team of doctors and nurses who will help you manage this disorder so your child can remain as healthy as possible. Treatment for this disease varies based on the child’s symptoms and overall health. Initial therapies may include:
This is used to help your child defecate. A soft catheter (tube) is inserted through the anus into the rectum and the doctor flushes the rectum and intestine with saline solution in order to remove stool. This can be performed at the bedside. This may be used until surgery is performed and sometimes as a treatment afterward.
Depending on the overall health of your child, a surgeon may decide he needs a stoma (a surgically created opening in the bowel, also called an ostomy). The surgeon creates a small hole in the abdomen and brings a small portion of the intestine up to the level of the skin. This allows stool to come out easily into a small bag. Types of ostomies include colostomies and ileostomies. We will explain the difference and will train you in ostomy care.
For most children, the ostomy will be temporary. After several months, your surgeon will close the ostomy. (Closure requires general anesthesia.)
A surgeon removes the abnormal section of the intestine and connects the remaining intestine to the anus just above the sphincter. After this procedure, some patients still experience problems with bowel function.
Sometimes patients have an ostomy at the same time as a pull-through procedure. In other cases, the pull-through procedure is performed without an ostomy; this is often referred to as a primary pull-through.
After the pull-through procedure, your child will be able to go home when he or she is eating well, is passing stool and has no fever. Initially, your child will poop frequently. It is important to protect her skin with barrier creams. We will train you in this care. A small number of patients develop a leak, abscess or infection at the suture line (inside the anus).
If your child develops fever, abdominal distension (enlarged abdomen) or decreased stool output (is not pooping very much) we need to hear from you right away. Please call us at 215-590-2730.
After your child undergoes a procedure, he will return for a follow-up appointment with his surgeon. After a pull-through procedure or ostomy closure procedure, children with Hirschsprung’s disease may continue to have some problems, which can include any of the following:
- Constipation — A high-fiber diet and fiber supplements can help prevent or minimize constipation.
- Bowel obstruction — This occurs when there is a blockage in the intestine. This may be due to a large amount of stool in the intestine, or it may be due to scar tissue after surgery. Signs and symptoms of a bowel obstruction include vomiting, pain and abdominal distension. Your child needs to be treated quickly if these symptoms occur.
- Severe diaper rash — After the pull-through procedure and colostomy closure (if performed), your child will experience frequent pooping resulting in many diaper changes. This can lead to significant diaper rash. The team will review with you techniques and products to help.
- Stenosis — This is a narrowing at the suture line (inside the anus) that can occur after a pull-through procedure. As the scar contracts, it may become too tight making it difficult to pass stool. An additional surgical procedure may be required to stretch the scar.
The Pediatric Anorectal Continence Evaluation (PACE) Program is available for long-term bowel management. Appointments are at the Richard D. Wood Pediatric Ambulatory Care Building (attached to the Main Hospital). Your initial appointment following surgery will occur about two weeks after discharge and then monthly as directed by your surgeon.
Children with Hirschsprung’s disease are at risk for a serious condition called Hirschsprung’s enterocolitis. Enterocolitis is an inflammation in the lining of the intestinal wall that must be treated immediately. If left untreated, it can be life threatening. Enterocolitis can occur in children with ostomies, as well as children who have had a pull-through procedure.
If your child has any of the following symptoms, call us right away or take your child to an emergency room:
- Explosive diarrhea
- Unusually foul-smelling diarrhea
- Gray or pale-colored stool
- Abdominal distension (swollen stomach area)
- Fever (with any of the other symptoms listed above)
- Lethargy (unusual sleepiness)