Hirschsprung’s disease


Hirschsprung’s disease is a condition that primarily affects children and is characterized by the absence of ganglion cells, which regulate bowel movements in the large intestine. Without these nerve cells to stimulate the muscles in the gut, the contents of the intestine can accumulate, leading to blockages that may cause serious harm.

The muscles in the walls of the large intestine are activated by nerve cells to facilitate the proper movement of stool towards the anus. In the absence of these nerve cells, the muscles cannot be stimulated, causing the bowel to stop functioning properly and leading to a lack of movement.

The two types of Hirschsprung’s disease are:

  • Short-segment: The condition is prevalent in 80% of patients, with a higher incidence in males. The most common type of this condition is characterized by the absence of nerve cell development in the final segment of the large intestine.
  • Long-segment: Both men and women are affected equally by this type. It happens when the big intestine lacks nerve cells.

Treatment for Hirschsprung’s disease involves surgically bypassing or removing the affected portion of the colon. After undergoing surgery, the majority of children with this condition gain weight, develop normally, and thrive. Hirschsprung’s disease is typically present at birth, but if the illness is moderate, it may not be discovered until later in infancy. It is rare for Hirschsprung’s disease to be diagnosed in adults.


Hirschsprung’s disease can have varying degrees of severity, which affects its signs and symptoms. While these indications typically manifest soon after birth, it is not always the case. One of the most noticeable signs is when a newborn fails to have a bowel movement within the first 48 hours after delivery. While other signs and symptoms may include:

  • Abdominal pain, or abdominal swelling
  • Brown or greenish vomit
  • Constipation or passing of gas
  • Diarrhea that could be bloody
  • Lack of appetite
  • Slow development or growth
  • Poor weight gain
  • Fatigue
  • Fever

It is recommended to seek medical attention if the child experience any signs and symptoms, particularly blood diarrhea, vomit, fever, chills, rectal bleeding, or severe constipation.


The exact cause of Hirschsprung’s disease is unknown, but it may occasionally be linked to a genetic mutation and can run in families. A child of a parent with Hirschsprung’s disease is more likely to be affected, and siblings are also at a higher risk if one child in the family has the illness. During fetal development, nerve cells usually develop from the top of the small intestine to the large intestine and then to the anus. However, in children with Hirschsprung’s disease, the nerve cells stop developing in the large intestine before reaching the anus. The nerves in the colon are responsible for managing muscle contractions required to pass food through the bowels. In the absence of these contractions, stool remains in the large intestine.

Risk factors

Hirschsprung’s disease risk factors include the following:

  • Family: Inheritance plays a role in Hirschsprung’s disease, and if one child in a family has the condition, there is a risk that future biological siblings may also be affected.
  • Gender: The number of cases of Hirschsprung’s disease is higher in men.
  • Genetic disorders: Hirschsprung’s disease is connected to some genetic disorders like Down syndrome and other birth defects including congenital heart disease.