The Outpatient Management of Hirschsprung’s Disease

The Pediatric Surgery team at the American Family Children’s Hospital

Hirschsprung’s is a congenital disease often diagnosed within the first week of life. Though diagnosis can be quite clear, individual follow-up and care is a delicate balance that illustrates the need for strong communication between surgeon and primary care physician to advance a successful care plan for each patient.

WHAT IS HIRSCHSPRUNG’S DISEASE?

Hirschsprung’s disease is a condition that affects the nerves in between the layers of muscle tissue in the intestine. It can be mild or severe depending on the length of bowel that is involved.

Children who have Hirschsprung’s disease are missing those nerves along part of the length of their colon and, rarely, along the entire colon. This prevents the colon from relaxing, which can cause a blockage of digested material and make it difficult to pass stool.

Hirschsprung’s disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females.

WHAT ARE THE SYMPTOMS?

Symptoms that may be present in newborns and infants include:

  • Failure to pass meconium shortly after birth
  • Failure to pass a first stool within 24 – 48 hours after birth
  • Difficulty with bowel movements
  • Infrequent but explosive stools
  • Jaundice
  • Poor feeding
  • Poor weight gain
  • Vomiting
  • Watery diarrhea (in the newborn)

Symptoms in older children:

  • Constipation that gradually gets worse
  • Fecal impaction
  • Malnutrition
  • Slow growth
  • Swollen belly
HOW IS IT DIAGNOSED?

Some cases may not be diagnosed until a later age. These can represent milder, or short-segment disease, but may also represent long-segment disease.

During a physical examination, you may be able to feel loops of bowel or impacted stool in the swollen belly. A rectal examination may reveal a loss of muscle tone in the rectal muscles and explosive diarrhea output after the rectal examination.

Tests used to help diagnose the disease may include:
  • Barium enema
  • Rectal biopsy
  • Anal manometry
TREATMENT OPTIONS

Surgery is required for Hirschsprung’s disease. This is done in one stage or two, depending on the condition’s severity and the age at diagnosis. Children who are diagnosed beyond the first week of life, those with poor nutrition, or those with Hirschsprung’s-associated enterocolitis (a life-threatening infection) typically undergo a two-stage procedure consisting of a colostomy as the first stage followed by a pull-through procedure as the second stage.

Leveling Colostomy

In a colostomy, the surgeon creates a small hole, or stoma, in the child’s abdomen and attaches the upper, healthy portion of the colon to the hole. The type of colostomy that is employed for Hirschsprung’s disease is unique. During the procedure, the surgeon biopsies multiple points of the colon to identify where the appropriate nerves are located, and makes the colostomy at that level (leveling colostomy). This is the point that will subsequently be “pulled-through” to the anus in the second operation. The leveling colostomy is often performed laparoscopically.

Pull-through Procedure

The definitive surgery to correct Hirschsprung’s disease involves removing the section of the colon without nerves and reattaching the remaining portion of the colon to the anus. Often, this can be done through minimally invasive (laparoscopic) surgery immediately after the condition is diagnosed (Primary Pull-through). In patients that have undergone a leveling colostomy, the pull-through procedure is usually performed 8-12 weeks later, and can often be done through a minimally invasive approach.

FOLLOW-UP CARE

Post-surgery, children will typically undergo rectal dilations to prevent narrowing, or stricture formation, of the anus for a period of up to one year. This is usually taught to parents and performed at home as part of the normal diaper-changing routine.

In the long-term, experience has taught us that even after surgery, patients with Hirschsprung’s disease often have significant bowel dysfunction. This typically can be managed with a combination of dietary measures, oral medications, or enemas. In fact, stool leakage or incontinence after surgery is most often a sign of underlying constipation and can typically be controlled with appropriate bowel management. In children with Hirschsprung’s disease, toilet training may take longer if severe constipation is present.

Some children can experience recurrent Hirschsprung’s-associated enterocolitis, a life-threatening infection of the bowel, even after surgical correction. This typically presents as abdominal distention or bloating, explosive diarrhea, and vomiting. This is a medical emergency and is usually treated with intravenous antibiotics and rectal irrigations (a form of enema) to reduce the amount of stool and bacteria in the colon. Children seem to outgrow the risk for Hirschsprung’s-associated enterocolitis by the late school-age years.

X-ray can also be helpful to identify enlarged intestine in patients with vomiting and or diarrhea who have had surgery for Hirschprung’s. The surgeon should be called when the child presents with symptoms of Hirschsprung’s-associated entercolotis.

HIRSCHSPRUNG’S CARE AT AMERICAN FAMILY CHILDREN’S HOSPITAL

UW Health’s Pediatric Surgery team offers comprehensive, individualized care for children with Cloaca, Hirschsprung’s Disease and anorectal malformations. Learn more about pediatric surgical care provided at the American Family Children’s Hospital. You can reach the Pediatric General Surgery Clinic at (608) 263-6420.

FOR MORE INFORMATION

National Digestive Disease Information Clearinghouse
Hirschsprung’s Help Book