Diseases

Aganglionosis (Hirschsprung Disease) Information

Hirschsprung disease definition and facts*

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.

Signs and 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.
• Intellectual disability

Signs and symptoms of Hirschsprung disease 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
• 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

Surgery for Hirschsprung disease

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.