Hirschsprung Disease

Medical facts edited by Charles Patrick Davis, MD, PhD

• Hirschsprung disease is a congenital disease where the large intestine does not have nerve cells needed to expel stools (feces) normally from the body.
• About one in 5000 newborns have Hirschsprung disease.
  • Symptoms in newborns include:
  • No bowel movement within 48 hours after birth
  • Vomiting (green or brown vomit)
  • Explosive stools after a rectal digital examination
  • Swollen abdomen
  • Constipation and/or diarrhea (possibly bloody)
  • Abdominal pain
  • Intestinal obstruction
  • Weight loss
  • Failure to thrive
  • Enterocolitis
  • Sepsis
  • Symptoms of Hirschsprung disease in toddlers and older children may include:
  • The inability to have a bowel movement (pass stools) without enemas or suppositories.
  • Swollen abdomen
  • Diarrhea (often bloody)
  • Slow growth
  • Intellectual disability
• The cause of Hirschsprung disease is due to nerve cells that are supposed to grow along the intestine and reach the anus, but do not because they stop growing too soon.
• Some people inherit the disease, and others have mutations in several genes. In about 50% of people with Hirschsprung disease, researchers and doctors do not know what genes cause it
• Your primary care doctor will refer you to a specialist in digestive disorders called a gastroenterologist, to diagnose the condition. Diagnosis for Hirschsprung’s is based on a physical exam, medical and family history, symptoms, and tests, for example, a digital exam.
• Surgery is the treatment for this life-threatening disease (procedures include pull-through for infants and ostomy for toddles and older children.).
• After surgery, the infant or child usually feels better, and eventually will have normal bowel movements.

Hirschsprung disease (HSCR) is a congenital (present at birth) disease of the large intestine or colon. It is one type of birth defect. People with the disease do not have the nerve cells in the intestine required to expel stools from the body normally.

Hirschsprung disease occurs in approximately 1 in 5,000 newborns. Children with Down syndrome and other medical problems, such as congenital heart defects, are at much greater risk. For example, about one in 100 children with Down syndrome also has Hirschsprung disease.

Hirschsprung disease is congenital, or present at birth; however, symptoms may or may not be obvious at birth. If you have a child with Hirschsprung disease, your chances of having more children with Hirschsprung disease are greater than people who don’t have a child with Hirschsprung disease. Also, if a parent has Hirschsprung disease, the chance of their child having Hirschsprung disease is higher. Talk with your doctor to learn more.

An early symptom in some newborns is failure to have a first bowel movement within 48 hours after birth. Other symptoms may include

• Green or brown vomit
• Explosive stools after a doctor inserts a finger into the newborn’s rectum
• Swelling of the abdomen
• Diarrhea, often with blood
• Failure to pass their first bowel movement (meconium)
• Constipation
• Nausea and vomiting
• Abdominal pain or distension
• Diarrhea
• Aganglionic megacolon
• Intestinal obstruction
• Weight loss
• Adducted thumb
• Failure to thrive in infancy
• Sepsis
• Enterocolitis

Symptoms of Hirschsprung disease in toddlers and older children may include

• Not being able to pass stools without enemas or suppositories. An enema involves flushing liquid into the child’s anus using a special wash bottle. A suppository is a pill Placed into the child’s rectum.
• Swelling of the abdomen.
• Diarrhea, often with blood.
• Slow growth.
• Intellectual disability

Before birth, a child's nerve cells normally grow along the intestines in the direction of the anus. With Hirschsprung disease, the nerve cells stop growing too soon. Why the nerve cells stop growing is unclear. Some Hirschsprung disease is inherited, meaning it is passed from parent to child through genes. Hirschsprung disease is not caused by anything a mother did while pregnant.

Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET (most common), EDNRB, and EDN3 genes. However, the genetics of this condition are complex and are not yet completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals.

Making a diagnosis for a genetic or rare disease can often be challenging, and the diagnosis for Hirschsprung disease is based on

• A physical exam
• A medical and family history
• Symptoms
• Test results

If your doctor suspects Hirschsprung disease, he or she may refer your child to a pediatric gastroenterologist—a doctor who specializes in digestive diseases in children—for additional evaluation.

Hirschsprung disease is a life-threatening illness, and treatment requires surgery. Children who have surgery for Hirschsprung disease most often feel better after surgery. If growth was slow because of Hirschsprung disease, growth typically improves after surgery.

For treatment, a pediatric surgeon will perform a pull-through procedure or an ostomy surgery. During either procedure, the surgeon may remove all or part of the colon, called a colectomy.

During a pull-through procedure, a surgeon removes the part of the large intestine that is missing nerve cells and connects the healthy part to the anus. A surgeon most often does a pull-through procedure soon after diagnosis.

Ostomy surgery is a surgical procedure that reroutes the normal movement of the stool out of the body when a part of the bowel is removed. Creating an ostomy means bringing part of the intestine through the abdominal wall so that stool can leave the body without passing through the anus. The opening in the abdomen through which stool leaves the body is called a stoma. A removable external collection pouch, called an ostomy pouch or ostomy appliance, is attached to the stoma and worn outside the body to collect the stool. The child or caregiver will need to empty the pouch several times each day.

Although most children with Hirschsprung disease do not need ostomy surgery, a child sick from Hirschsprung disease may need ostomy surgery to get better before undergoing the pull-through procedure. This gives the inflamed areas of the intestine time to heal. In most cases, an ostomy is temporary and the child will have a second surgery to close the ostomy and reattach the intestine. However, sometimes children with Hirschsprung disease have a permanent ostomy, especially if a long segment of the bowel is missing nerve cells or the child has repeated episodes of bowel inflammation, which health care providers call enterocolitis.

Ostomy surgeries include the following:

• Ileostomy surgery is when the surgeon connects the small intestine to the stoma.
• Colostomy surgery is when the surgeon connects part of the large intestine to the stoma.

After surgery, your child will need time to adjust to the new structure of his or her large intestine.

Pull-through Procedure Recovery

• narrowing of the anus
• constipation
• diarrhea
• leaking stool from the anus
• delayed toilet training
• enterocolitis

Typically, these problems improve over time with guidance from your child’s doctors. Most children eventually have normal bowel movements.

Ostomy Surgery Recovery

Infants will feel better after ostomy surgery because they will be able to pass gas and stool easily.