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Hirschsprung Disease Symptoms, Causes, Diagnosis, and Treatment

Hirschsprung disease definition and facts*

Medical facts edited by 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.
  • What is Hirschsprung disease?

    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.

    How many newborns have Hirschsprung disease?

    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.

    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

    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
    Medically Reviewed by a Doctor on 6/29/2017


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