Hirschsprung disease is a condition that occurs when certain nerve cells that are normally present in the wall of the intestine do not form properly during fetal development. The abnormality is called aganglionosis or aganglionic megacolon.

In Hirschsprung’s disease the affected colon and rectum is missing the nerves (ganglion cells) that allow it to relax and therefore the rectum and colon is squeezing all the time, which prevents gas and stool from passing. The stool and gas is then stuck at the level above the diseased intestine.

Hirschsprung’s disease can be more complicated as some patients develop an infection in their colon (called enterocolitis). Children suffer from foul smelling diarrhea and crampy abdominal pain. Enterocolitis can be mild or extremely severe, even life threatening.

All children with Hirschsprung disease require surgical treatment.

For total colonic Hirschsprung’s disease, the initial surgery typically involves finding the level of change from ganglion cells to no ganglion cells in the intestine and bringing the working intestine up to the skin to create an ileostomy (stoma). At a later date, a second surgery involves removing the part of the intestine that isn’t working properly and connecting the working intestine to the anus. This allows the child to have bowel movements.

Incidence

Hirschsprung’s disease happens in about one in every 5000 births and occurs more often in boys than in girls, but in total colonic Hirschsprung’s disease boys and girls are affected equally. Total colonic Hirschsprung’s disease accounts for five to 10 percent of Hirschsprung’s cases.

Risk Factors

Some cases of Hirschsprung’s disease are linked to a genetic (inherited) cause. About 80% of people with the disease do not have a family history of the disease. But, if one parent has Hirschsprung’s disease, there is about a 1% chance their child will have it too.

If a couple has a child with Hirschsprung’s disease, there is a 4% chance that a sibling will be born with it also.

It appears that if a parent or child has long-segment Hirschsprung’s disease, the chances a sibling will be born with the Hirschsprung’s disease are higher than if the parent or child has ultrashort or short-segment Hirschsprung’s disease.

Symptoms

Infants usually begin having symptoms during the first 24 to 48 hours of life. While infants may experience a range of symptoms, the following are the most common:

• Not having a bowel movement in the first 48 hours of life
• Gradual swelling of the belly
• Gradual onset of vomiting
• Fever
• Sepsis (overwhelming infection)
• Constipation that worsens over time
• Small, watery stool

Diagnosis

A careful physical exam and testing will be done to diagnose Hirschsprung’s disease. Testing includes:

• Abdominal X-ray: An X-ray of the belly may show a bowel obstruction. This test is a first step. It cannot give an exact diagnosis of Hirschsprung’s disease.
• Contrast enema: This test uses X-ray images along with a contrast enema solution. The solution makes the features of the colon show up better on an X-ray. This is the most helpful imaging study to assist in finding out if a child has Hirschsprung’s disease.
• Rectal biopsy: This test gives the definitive diagnosis. It involves taking a sample of the cells in the rectum for a pathologist to view under a microscope. The pathologist confirms that a child has Hirschsprung’s disease based on the absence of ganglion cells and other abnormal nerve-related findings. In infants, the care team does a “suction” rectal biopsy at the bedside in the hospital room or clinic. Since there are no sensory nerves at the site of biopsy, the procedure is not painful. If this is inconclusive or if the patient is older, a surgical biopsy is done under general anesthesia in the operating room.
• Anal manometry: This test measures anal pressure and is used in older patients. It also checks if normal reflexes of the rectum and the anus are present. It can be done at the bedside in the hospital room.

Treatment

Each child with Hirschsprung’s disease has unique needs. The multidisciplinary care team will make a treatment plan suited for your child’s condition and overall health.

Based on your child’s needs and stage of treatment, the care team may include:

• Specialized pediatric colorectal surgeon
• Dedicated nurse
• Pediatric gastroenterologist specializing in motility (motion of the digestive system)
• Registered dietician
• Pelvic floor physical therapist
• Psychologist
• Social worker
• Child life specialist
• Other experts as needed

In cases of total colonic Hirschsprung's disease children need to have the affected non-functioning intestine removed.

Due to the complexity of the condition, the corrective treatment must be performed in stages.

Irrigations

Children with total colonic Hirschsprung’s disease will require rectal irrigations at the time of initial diagnosis. Performing these irrigations will relieve the obstructed non-functioning bowel by removing the trapped stool and gas. Rectal irrigations are something your healthcare team will teach you how to perform at the time of TCHD diagnosis.

First surgery:

The first surgery is to create an ileostomy. An ileostomy has an opening in the small intestine just above the colon (the ileum) that is brought to the skin. The purpose of the ileostomy is so the stool and gas can come out of this opening before it gets to the poorly functioning colon.

After creation of ileostomy, rectal irrigations may still be needed to prevent enterocolitis symptoms.

Final surgery

Prior to surgery to close the ileostomy, the patient should also be able to accept rectal irrigations. These irrigations help treat and prevent enterocolitis. Patients with TCHD are more likely to develop enterocolitis and therefore must be able to accept rectal irrigations before the surgeon is comfortable with closing the ileostomy.

The next step in the surgical treatment of Hirschsprung’s disease involves removing the part of the intestine that isn’t working properly and connecting the working end of the small intestine (the ileostomy end) to make a connection at the anus. This allows for the child to have bowel movements. For more details about this surgery, discuss this with your surgeon.

Timing of this surgery varies depending on the surgeon. Most surgeons who treat this condition prefer to wait until the child is at least a year of age before considering performing this surgery. Some surgeons prefer to wait until the child is potty-trained for urine. The key to determining if a child should have this step of the surgery involves understanding what will happen after surgery.

Once the surgery happens, the stool that had been coming out the ileostomy will now be coming out of the bottom. If the stool is loose and watery, there may be frequent accidents in a potty-trained child. They may have six or more loose bowel movements in a day and may also have stooling at night as well. In a diaper aged child, the frequent watery stool may have a risk of severe diaper rash.

To help prevent this, when a child is over a year of age, we may suggest a trial where we attempt to thicken the stool with constipating foods, fiber and medication, if needed, to slow the down the small intestine. If the stool is a good consistency that would be good for future potty training then this surgery would likely be successful. Success means good long-term outcome and quality of life.

Rectal irrigations may be needed EVEN AFTER the colon has been removed and stool is now coming out from the bottom. The irrigations are needed to prevent or treat enterocolitis symptoms. Rectal irrigations are something your healthcare team will teach you how to perform at the time of TCHD diagnosis.

Long-Term Complications

The outcome for the typical disease is good. Enterocolitis can still occur after surgery. The risk of enterocolitis decreases with age, but the caregivers should always be observing for its signs and symptoms.

Your child’s bowel routine will likely require some dietary adjustments and / or medication as directed by their colorectal doctor.

Sodium Supplementation and Dehydration

With an ileostomy, the stool comes out of the body before it uses all of the water, electrolytes, and some nutrients. Because of this, it is important for children with an ileostomy to be monitored closely for dehydration, electrolyte (salt, potassium) loss, and for growth.

Some children take enough salt in through their diet and don't require any special management. Other children may need a salt supplement.

A simple urine test can tell how much salt is being lost. If salt supplementation is needed, this should be safely managed by your pediatrician along with a nutritionist.