Hirschsprung disease is a birth defect in which nerve cells are missing at the end of a child’s bowel. Normally, the bowel contains many nerve cells all along its length that control how the bowel works. When the bowel is missing nerve cells, it does not work well. This damage causes blockages in the bowel because the stool does not move through the bowel normally.

Most often, the areas missing the nerve cells are the rectum and the sigmoid colon. However, some children are missing the nerve cells for the entire colon or part of the small intestine.

• In short-segment Hirschsprung disease, nerve cells are missing from the last part of the large intestine.
• In long-segment Hirschsprung disease, nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine.
• Rarely, nerve cells are missing in the entire large and small intestine.

In a child with Hirschsprung disease, stool moves through the bowel until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops.

Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal.

There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis).

Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.

The bowel consists of the small and large intestines. The large intestine, which includes the colon and rectum, is the last part of the gastrointestinal (GI) tract. The large intestine’s main job is to absorb water and hold stool. The rectum connects the colon to the anus. Stool passes out of the body through the anus. At birth, the large intestine is about 2 feet long. An adult’s large intestine is about 5 feet long.

• Hirschsprung disease is a birth defect in which nerve cells are missing at the end of a child’s bowel.
• In a child with Hirschsprung disease, stool moves through the bowel until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops.
• During early development of the baby in the mother’s womb, nerve cells stop growing toward the end of a child’s bowel causing Hirschsprung disease.
• Hirschsprung disease occurs in approximately one in 5,000 newborns. Children with Down syndrome and other medical problems, such as congenital heart defects, are at much greater risk.
• The main signs and symptoms of Hirschsprung disease are constipation or intestinal obstruction, usually appearing shortly after birth. Most often, an infant or a child with Hirschsprung disease will have other symptoms, including growth failure, swelling of the abdomen, unexplained fever, or vomiting.
• A doctor will know if your child has Hirschsprung disease based on a physical exam, a medical and family history, symptoms, and test results.
• 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.

Hirschsprung disease occurs in approximately one 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.

During early development of the baby in the mother’s womb, nerve cells stop growing toward the end of a child’s bowel causing Hirschsprung disease. Most of these cells start at the beginning of the bowel and grow toward the end. Hirschsprung disease occurs when these cells do not reach the end of a child’s bowel. Scientists know that genetic defects can increase the chance of a child developing Hirschsprung disease. However, no testing exists that can diagnose a child while the mother is pregnant. Researchers are studying if the mother’s health history or lifestyle during pregnancy increases the chance of her baby developing Hirschsprung disease.

The main signs and symptoms of Hirschsprung disease are constipation or intestinal obstruction, usually appearing shortly after birth. Many healthy infants and children have difficulty passing stool or infrequent bowel movements. However, unlike healthy children and infants, kids with Hirschsprung disease typically do not respond to constipation medicines given by mouth. Most often, an infant or a child with Hirschsprung disease will have other symptoms, including

• growth failure
• swelling of the abdomen, or belly
• unexplained fever
• vomiting

The symptoms can vary; however, how they vary does not depend on how much of the intestine is missing nerve cells. No matter where in the intestine the nerve cells are missing, once the stool reaches this area, the blockage forms and the child develops symptoms.

Symptoms in Newborns

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

Symptoms in Toddlers and Older Children

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.

A doctor will know if your child has Hirschsprung disease 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.

Physical Exam

During a physical exam, a doctor usually

• reviews your child’s height and weight
• examines your child’s abdomen for swelling and examines his or her body for signs of poor nutrition
• uses a stethoscope to listen to sounds within abdomen
• taps on specific areas of your child’s body
• performs a rectal exam—explosive stool after a rectal exam may be a sign of Hirschsprung disease

Medical and Family History

A doctor will ask you to provide your child’s medical and family history to help diagnose Hirschsprung disease. The doctor will ask questions about your child’s bowel movements. The doctor will also ask about vomiting, swelling of the abdomen, and unexplained fever. The doctor is less likely to diagnose Hirschsprung disease if problems with bowel movements began after 1 year of age.

Medical Tests

A doctor who suspects Hirschsprung disease will do one or more of the following tests:

• Rectal biopsy. A rectal biopsy is a procedure that involves taking a small piece of tissue from the rectum for examination with a microscope. The doctor can perform two types of procedures:
  • a rectal “suction” biopsy. During this biopsy, a pediatric gastroenterologist or a pediatric surgeon will insert a small instrument into the child’s anus and remove a small piece of tissue from the lining of his or her rectum. The biopsy is not painful and babies may even fall asleep during the procedure. In most cases, doctors do not use pain medicine or anesthesia. However, for older children doctors sometimes will use medicine to relieve anxiety or reduce the memory of the test.
  • a “full thickness” rectal biopsy. A pediatric surgeon performs this procedure, in which he or she will remove a thicker piece of tissue. The child will receive anesthesia.
  A doctor will examine the tissue under a microscope. The rectal biopsy is the best test to diagnose or rule out Hirschsprung disease.
• Abdominal x-ray. An x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation is small. An x-ray technician performs the x-ray at a hospital or an outpatient center, and a radiologist—a doctor who specializes in medical imaging—interprets the images. The child does not need anesthesia. The child will lie on a table or stand during the x-ray. The technician may ask the child to change positions for additional pictures. An x-ray of the abdomen may show intestinal obstruction.
• Anorectal Manometry. Anorectal manometry is a test that uses pressure sensors and balloons to measure how well the child’s rectum is working. A doctor performs anorectal manometry in a hospital. During the procedure, the doctor inflates a small balloon inside the child’s rectum. Normally, the child’s rectal muscles will relax. If his or her muscles don’t relax, the doctor may suspect Hirschsprung disease.
• Lower GI series. A lower GI series is an x-ray exam that doctors use to look at the large intestine. An x-ray technician and a radiologist perform the test at a hospital or an outpatient center, and a radiologist interprets the images. A child does not need anesthesia and does not need a bowel prep for the test.
  
  For the test, the child will lie on a table while the radiologist inserts a flexible tube into the child’s anus. The radiologist fills the child’s large intestine with barium or another contrast material. A technician performs this test on newborns, toddlers, and older children. A lower GI series can show changes in the bowel and help doctors diagnose obstructions.

In most cases, doctors diagnose Hirschsprung disease in infancy; however, sometimes doctors diagnose Hirschsprung disease in older children.

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.

Pull-through Procedure

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

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.

After the Pull-through Procedure

Most children feel better after the pull-through procedure. However, some children can have complications or problems after surgery. Problems can include

• 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.

After Ostomy Surgery

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

Older children will feel better as well, although they must adjust to living with an ostomy. They will need to learn how to take care of the stoma and how to change the ostomy pouch. With a few lifestyle changes, children with ostomies can lead normal lives. However, they may worry about being different from their friends. A special nurse, called an ostomy nurse, can answer questions and show your child how to care for an ostomy.

Enterocolitis

Adults and children with Hirschsprung disease can suffer from enterocolitis before or after surgery. Symptoms of enterocolitis may include

• a swollen abdomen
• bleeding from the rectum
• diarrhea
• fever
• lack of energy
• vomiting

A child with enterocolitis needs to go to the hospital, because enterocolitis can be life threatening. Doctors can treat some children with enterocolitis with a special antibiotic by mouth, often in combination with rectal irrigation at home and in the doctor’s office. During rectal irrigation, a doctor inserts a small amount of mild salt water into the child’s rectum and allows it to come back out.

Doctors will admit children with more severe symptoms of enterocolitis to the hospital for monitoring, rectal irrigation, and intravenous (IV) antibiotics and IV fluid. Doctors give IV antibiotics and fluids through a tube inserted into a vein in the child’s arm. In severe or repeated cases of enterocolitis, a child may need a temporary ostomy to let the intestine heal or a revision of the pull-through surgery.

If a surgeon removes the child’s colon or bypasses it because of an ostomy, the child will need to drink more liquids to make up for water loss and prevent dehydration. They also need twice as much salt as a healthy child. A doctor can measure the sodium in a child’s urine and adjust his or her diet to ensure adequate salt replacement.

Some infants may need tube feedings for a while. A feeding tube is a passageway for the infant to receive infant formula or liquid food directly into his or her stomach or small intestine. The doctor will pass the feeding tube through the nose. In some cases the doctor will recommend a more permanent feeding tube that he or she puts in place surgically in the child’s abdomen.