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Hirschsprung’s disease

Hirschsprung’s disease takes his name from Dr. Harald Hirschsprung, a Danish pediatrician. He was the first to describe this condition in 1886. Also, it is known as “aganglionosis” because the main finding in all these patients is that they do not have ganglion cells in the rectum.

What is Hirschsprung’s disease?

Hirschsprung’s disease is a congenital problem; it is not an acquired disease. All the patients with Hirschsprung were born with absences of ganglion cells in the rectum. The lack of these cells causes an obstruction of the large bowel.

Most of these babies present at birth a delay to pass meconium (the dark green poop in newborns) for more than 24 hours or do not have bowel movements. Also, they threw up a yellow/green liquid (bilious emesis), and their belly is bloated (abdominal distention).

No. Hirschsprung disease is not alike in all patients. Although this disease always affects the rectum, ganglion cells’ absence affects the left colon (Long Segment Hirschsprung) or the entire large intestine (Total colonic aganglionosis). It is essential to know the type of Hirschsprung because each one has a different surgical treatment and prognosis.

For a better description, please see the anatomical illustration of a normal colon below and compare it to images of Hirschsprung disease’s three most common types.

At birth, patients with Hirschsprung suffer inflammation of the large intestine, named colitis. The majority born with “mild colitis.” These babies have minor symptoms and may not be diagnosed unless the physician suspects this problem. On the other side of the spectrum, some patients are born with “severe colitis.” These patients present significant abdominal distention, fever, vomiting, dehydration, and some have an intestinal perforation (a large intestine rupture).

Hirschsprung is confirmed with an adequate rectal biopsy obtained at the baby’s bedside or in the operating room. The surgeon should guarantee a sufficient sample. Then, the rectal tissue is analyzed by an experienced pathologist in Hirschsprung. Usually, the result is ready in 24-48 hours.

Once the biopsy confirms the diagnosis, we perform a “Contrast Enema for Hirschsprung.” This singular study is performed by an experienced pediatric radiologist to achieve our goal: demonstrate the narrowed aganglionic segment and the area where the dilated part (with ganglion cells) arises. This area is called the “Transitional Zone.” When this study is performed correctly, we can estimate the intestine’s length with Hirschsprung and plan the proper medical and surgical treatment.

Yes. Hirschsprung’s disease has symptoms like constipation, allergies to some components of formula lactose intolerance, enterocolitis, and intestinal infections. These similarities produce a delayed diagnosis of Hirschsprung in some patients. It is essential to rule out Hirschsprung in all patients with an early onset of constipation.

As we previously described, Hirschsprung’s has different clinical expressions. Also, it could affect different length segments, so we will explain the “standard” approach remarking some variables in each stage.

How is Hirschsprung’s disease treated?

As we previously described, Hirschsprung’s has different clinical expressions. Also, it could affect different length segments, so we will explain the “standard” approach remarking some variables in each stage.

Stage 1: Relieve the obstruction

a) Rectal tubeand Irrigations– More than 70% of newborns with Hirschsprung’s disease have this problem only in the rectum or rectum and sigmoid. This type is also named “Short or rectosigmoid Hirschsprung.” Consequently, the obstruction is resolved with a rectal tube and irrigations. This medical treatment avoids an operation to create an intestinal diversion called a colostomy. Also, rectal irrigations offer the patients the possibility to repair the Hirschsprung disease with only one surgical procedure. This form to treat it is known as “One-stage pull-through” or “Primary pull-through.” The rectal tube is placed into the rectum allowing the gas, meconium, or feces to come out. Then 10 to 20 ml of warm saline solution is instilled into the colon, and the solution returns. This procedure could be maintained for several days or even weeks until a comprehensive diagnosis is established.

b) Colostomy– An intestinal stoma is needed in newborns or infants when the medical treatment (the rectal tube and irrigations) does not resolve the obstruction. This situation occurs in patients with long aganglionic segments, and usually, an abdominal exploration is needed.

c) Ileostomy– Patients with Hirschsprung of the entire colon require an intestinal stoma in the small bowel.

Stage 2: Pull-through

All types of Hirschsprung’s disease need a surgical procedure achieving 3 surgical principles:

  • To remove the aganglionic segment,
  • To mobilize the intestine with ganglion cells through the pelvis to the anal canal, and
  • To perform an anastomosis -surgical union- close to the dentate line and avoiding damage to the anal canal. These steps are commonly called “the pull-through,” and there are different techniques to perform it.

Usually, the colon is pulled through. However, the small bowel is used in patients with total colonic aganglionosis. Some surgeons use a portion of the aganglionic colon in these particular patients to create a mixed tube with a small bowel called a “colon patch.” (We typically do not recommend a colon patch because they frequently produce obstructive problems.)

Stage 3: Close the colostomy or ileostomy

The stomas could be closed at the time of the pull-through if the surgeon decides not to do it; the colostomy or ileostomy is closed 4-8 weeks after the pull-through.

  • The surgical treatment of Hirschsprung’s could be made as:
  • One-stage pull-through (e.g., primary pull-through)
  • Two-stages pull-through (e.g., colostomy and pull-through) or
  • Three-stages pull-through (e.g., colostomy, pull-through, and colostomy closure)

What can I expect for my son/daughter after the pull-through?

Many children with Hirschsprung’s disease are doing well after the pull-through. However, there is a group of children with postoperative functional problems needing long-term follow-up.

1) One such problem is colitis that affects around 30% of the patients. It occurs at any time after the pull-through. Patients present intestinal obstruction (Hirschsprung-like symptoms), abdominal distention, smelly loose stools (diarrhea-like), vomiting, and fever. These symptoms could be mild to severe and should be treated immediately, or better yet, should be prevented. Please read below about colonic irrigations.

2) Other groups of patients may suffer fecal incontinence. Most of them are diagnosed at 3 to 4 years of age. The parents recognize that their children cannot use regular underwear due to fecal soiling and cannot achieve bowel control. The most common cause is damage to the anal canal during the pull-through.

3) Finally, constipation is a problem that other patients may suffer after the pull-through.

What are colonic irrigations? Why should I know how to make it?

The anal canal is the end of the large bowel and is localized between the rectum and anus. The anal canal possesses the elements for fecal continence. This segment should be preserved during the pull-through. The bowel with ganglion cells should be anastomosed (connected) to the rectum in the proximity of the anal canal, a few millimeters above the dentate line.

The consequence of conserve this structure (the anal canal) is that we leave a short zone with “obstructive-functional Hirschsprung’s disease,” which is usually overcome for the remaining ganglionated bowel. For unknown causes, some patients develop obstruction to the outflow. It causes stasis of stool, bacterial overgrowth, and the colon’s inflammation named “colitis” An inflamed bowel does not have regular propulsive movements worsening the obstruction.

In patients with “obstructive colitis,” colonic irrigations are needed to remove the stool, clean (washout) the colon, and prevent stasis of feces, helping to take control of bacterial overgrowth.

Fig 1. Healthy colon

Illustration of the anatomy of a healthy colon with its different segments

Fig 2. Rectosigmoid Hirschsprung

Approximately 80% of babies born with Hirschsprung have only the rectosigmoid without ganglion cells. Note the narrow and spastic aganglionic rectum is creating an obstruction. Above this segment, observe the obstructed and dilated large bowel. This segment contains ganglion cells

Fig 3. Long segment Hirschsprung disease

Approximately 10 to 15% of babies born with Hirschsprung have this type of aganglionosis. Observe a larger aganglionic distal segment causing obstruction and the proximal dilated colon (called the transverse colon) with ganglion cells.

Fig 4. Total colonic aganglionosis

This form may affect approximately 10% of babies born with Hirschsprung. The entire colon is narrow, causing obstruction and the small bowel (ileum) is the dilated intestine.

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MEET OUR DOCTORS

Keeping patients safe is our top priority, We’re delivering thoughtful, high-quality care for kids who need it

Dr. Alberto Peña
Dr. Alberto Peña
Founder Director of the International Center of Colorectal and Urogenital Care, Children’s Hospital Colorado Emeritus Professor of Surgery, University of Colorado
Dr. Andrea Bischoff
Dr. Andrea Bischoff
Director of the International Center for Colorectal and Urogenital Care, Children’s Hospital Colorado Professor of Surgery, University of Colorado
Dr. Luis de La Torre
Dr. Luis de La Torre
Assistant Director, International Center for Colorectal and Urogenital Care, Children’s Hospital Colorado Associate Professor of Surgery, University of Colorado

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