Understanding Hirschsprung's Disease: Symptoms, Causes, and Treatment Options

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Hirschsprung’s Disease


Hirschsprung’s disease (HSCR) is a congenital condition that affects the large intestine (colon). It is characterized by the absence of nerve cells (ganglion cells) in a portion of the colon, which causes a lack of normal peristalsis (muscle contractions that move stool through the intestines). This can lead to severe constipation and other health problems.


The exact cause of Hirschsprung’s disease is unknown, but it is thought to be caused by a combination of genetic and environmental factors. Mutations in several genes have been linked to HSCR, including RET, GDNF, and EDNRB. These genes are involved in the development of the enteric nervous system, which controls the function of the intestines.


The symptoms of Hirschsprung’s disease can vary depending on the severity of the condition. In newborns, the most common symptom is severe constipation that does not respond to treatment. Other symptoms may include:

  • Abdominal pain
  • Vomiting
  • Bloating
  • Diarrhea
  • Failure to thrive
  • Malnutrition

In older children and adults, symptoms may include:

  • Chronic constipation
  • Abdominal pain
  • Bloating
  • Rectal prolapse (protrusion of the rectum out of the anus)
  • Fecal incontinence


Hirschsprung’s disease is diagnosed based on a combination of symptoms, physical examination, and medical tests. The following tests may be used:

  • Rectal biopsy: A small piece of tissue is removed from the rectum and examined under a microscope. This test can confirm the absence of ganglion cells.
  • Anorectal manometry: This test measures the pressure and muscle contractions in the rectum and anus.
  • Contrast enema: A contrast dye is injected into the colon to visualize the area of narrowing.
  • Suction biopsy: A suction device is used to remove a small piece of tissue from the colon.


The treatment for Hirschsprung’s disease is surgery to remove the affected portion of the colon. The type of surgery performed will depend on the severity of the condition. The two main types of surgery are:

  • Swenson procedure: This is the most common type of surgery for Hirschsprung’s disease. It involves removing the affected portion of the colon and pulling the healthy portion of the colon down to connect to the anus.
  • Duhamel procedure: This surgery is used for more severe cases of Hirschsprung’s disease. It involves removing the affected portion of the colon and creating a new opening (stoma) in the abdomen. The stoma is then connected to a bag that collects the stool.

After surgery, children will need to take medication to help prevent constipation and bowel incontinence. They may also need to follow a special diet and have regular bowel movements.


If Hirschsprung’s disease is not treated, it can lead to a number of complications, including:

  • Bowel obstruction: This occurs when the colon becomes completely blocked, which can be life-threatening.
  • Perforation: This occurs when the colon ruptures, which can lead to infection and sepsis.
  • Enterocolitis: This is a condition that causes inflammation of the colon and small intestine.
  • Malnutrition: This occurs when the body is unable to absorb enough nutrients from food.


The prognosis for Hirschsprung’s disease depends on the severity of the condition and the age at which it is diagnosed. With early diagnosis and treatment, most children with HSCR can live full and healthy lives.

Other Information

Hirschsprung’s disease is a rare condition that affects about 1 in 5,000 newborns. It is more common in boys than girls. There is no cure for HSCR, but surgery can effectively manage the condition and prevent complications.

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