Hirschsprung’s disease (HD) is a condition that may involve some or all of the rectum, colon and, rarely, the small intestine. HD occurs when the bowel wall of the intestine is missing essential cells, called ganglion cells. In children with HD, the affected bowel wall also contains hypertrophic (abnormally large) nerves instead of normal sized nerves.
These nerves are surrounded by cells which signal the muscles in the large intestine to push stool towards the anus. Without this signal to push stool along, the stool will remain in the large intestine, where it will accumulate over time, causing an intestinal blockage.
The ganglion cells relax the intestine to allow for stool to pass through the bowel. Without these cells, the affected area of the intestine cannot relax. Therefore, the area is narrow because it is always in a constant state of contraction (see illustration below). The stool is not able to move well through this area, which can cause an intestinal blockage.
|Nerve cells are found throughout the large intestine.
Nerve cells are missing from the last segment of the large intestine.
Occurrence Rate & Risks
HD is a condition that a child is born with (congenital), and it occurs in 1 out of every 5,000 live births. This disease occurs five times more frequently in males than in females. 80% of patients with HD are identified in the first six weeks of life. Currently, there are no prenatal tests to indicate that a baby has HD.
Conditions that have been linked to HD are Down’s syndrome and congenital hypoventilation syndrome (CCHS), among others. At Lurie Children’s, we are involved in a research study to learn more about the genetics of this condition.
Signs & Symptoms
Most patients diagnosed with HD are identified when they are newborns. However, some patients may not be diagnosed until they are toddlers or have entered childhood. It’s rare that patients are discovered when they’re teenagers, but there are documented cases of this occurring. Below are some of the signs and symptoms of HD.
- The newborn does not have a bowel movement on their own in the first 48 hours of life
- Periods of severe abdominal bloating
- Gradual onset of vomiting
- Irregular bowel movements
- Difficulty passing stool
- Occasional passing of watery stools that can be foul smelling
- Stools that have a lot of force when expelled, referred to as “explosive”
- Decreased desire to eat
- Usually occurs during times of bloat/abdominal distention
- Delay in growth or failure to gain adequate weight
Our team uses the following methods and tests to diagnose HD in children.
- Abdominal x-ray: This may show an enlarged area of the intestine.
- This is not a diagnostic test for HD by itself.
- Barium/Contrast enema: This test uses a special liquid along with x-ray that will highlight the areas of the intestine so that the practitioner can see any narrow or enlarged areas of the colon.
- Anorectal Manometry: This is a test that measures the response of the nerves in the anal opening during contraction and relaxation.
- Rectal biopsy: This is a procedure where the surgeon will obtain a tiny piece of tissue from the inside of the anus. This tissue is then sent to a pathologist to look for ganglion cells and hypertrophic nerves under a microscope. This does not require anesthesia and can be done at the bedside or in the clinic setting. This can only be done for infants.
- Full thickness biopsy: This is a procedure that involves anesthesia. In patients over one year of age and older, suction biopsy may be inadequate. The surgeon may need a deeper biopsy. They will obtain a piece of tissue from the inside of the anus while the patient is under anesthesia. This type of biopsy is chosen when the rectal biopsy will not be yield an adequate sample.
The standard approach to diagnose HD is to obtain a contrast enema and a rectal biopsy.
Hirschsprung disease is treated by the specialists in the Division of General Pediatric Surgery. Learn more about their approach to care, and how make an appointment.
Irrigations can be performed at home by the parents to empty trapped stool from the lower bowels/intestines. Parents are taught how to perform irrigations during a hospital stay.
Irrigations can be done by inserting a small, flexible tube through the anus. A normal saline (salt) solution is then pushed through this tube into the intestines to wash out the trapped stool and gas as the tube is manipulated in and out. This should provide immediate relief for your child. The number of irrigations per day, the volume used, and the length of time that will be required is determined by your surgical team.
The treatment of HD begins with a surgical procedure. To identify the presence or absence of ganglion cells, a series of biopsies are done during surgery to identify the normal intestine, which will have ganglion cells and normal nerves. These biopsies are evaluated under a microscope by a pathologist during the surgery.
Surgery for HD may require a temporary ostomy. The ostomy is created at
the site where the biopsy confirms ganglion cells and normal nerves.
This allows the enlarged bowel to come down to normal size, which may
take weeks to months.
Once the intestine has had time to return to a more normal size, a second surgery would be done to remove the abnormal bowel. The normal bowel is then “pulled through” to the anus.
If an ostomy is not required, then the abnormal bowel will be removed and the normal bowel will then be “pulled through” to the anus.
|Large intestine with Hirschsprung’s disease before the pull-through procedure.
||First the diseased segment is removed.
||Then the healthy segment is “pulled through” and attached just above the internal sphincters.|
After surgery, your child will remain in the hospital for a few days (length of stay varies depending on the child) to allow time to recover and heal properly. Your child will receive pain management and hydration through an I.V. (special thin, plastic tube that stays in the blood vessel). They may also have a small tube in their nose that ends in their stomach.
If your child had a pull through procedure that did not require an ostomy, then once the child begins to pass gas or stool, the tube from their nose will be removed and they will be allowed to eat. Once they are tolerating their feedings by mouth, passing stool on their own, and have no fevers, the I.V. will be removed and they can go home. In the first few weeks postoperatively, expect that your child will have 8-12 stools per day initially. Over time, the number of stools per day will lessen to 3-4 times per day. You will be given a skin care regimen to assist with their diaper rash.
If your child has an ostomy, one of the APNs from the wound/ostomy team will meet with you in the hospital to develop a plan for at-home care.
Once your child is at home, they will still be recovering. You will be monitoring the amount of food or formula that they are taking. Keeping your child hydrated will be essential in recovery. Also, they may still need to take some medications. You will need to maintain good skin care in the diaper area or around the ostomy to prevent skin breakdown.
Your child will have a follow up appointment with their surgeon and APN one to two weeks after discharge. Once your child has fully recovered from surgery, they will be followed on a routine basis by your surgeon and the APN group to ensure adequate weight gain and optimal outcomes.
After recovering from the surgery, most children with HD will have good long-term outcomes. They should continue to grow and develop normally. The surgeon and APN group will continue to monitor their growth at their routine follow up appointments. Most children will have daily bowel movements that are soft and easily passed. Some children may have loose stools that can be difficult to control or hard stools that can be difficult to pass. A good daily bowel management plan (hyperlink) will help your child manage these issues. Our team is committed to following and monitoring these patients through their childhoods to provide the best care and outcomes.
It is important to note that your child will always have Hirschsprung’s disease because they lack a normal “recto-anal inhibitory reflex.” Their sphincters still have a small amount of disease that cannot be removed without affecting their ability to hold stool in. A majority of children with HD are able to adapt to this small area of internal anal sphincter achalasia (non-relaxation). HD is a life-long condition that does require monitoring as the child grows and through toilet training years.
Patients with HD may suffer from Hirschsprung-associated enterocolitis (HAEC). This can occur before or after their surgery. Some children with HD have an underlying dysmotility of the intestines, which can lead to stasis (accumulation) of the stool, causing subsequent bacterial overgrowth and then diarrhea.
This overgrowth can cause symptoms such as fevers, abdominal pain, nausea, vomiting, failure to thrive, intermittent cramping, constipation, diarrhea, abdominal distention/bloating, a decreased desire to eat and/or lethargy or increased sleepiness.
If this occurs, you should call your surgeon’s office or bring them to the emergency room for prompt treatment.
Illustrations courtesy of digestive.niddk.nih.gov.