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Hirschsprung’s Disease in children

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Hirschsprung’s disease is a rare congenital condition that affects the large intestine (colon) and occurs in infants and children. It is characterized by the absence of nerve cells (ganglion cells) in the lower part of the colon, which hinders the normal movement of stool through the affected segment of the bowel. This leads to a blockage in the colon, causing a range of symptoms. Here are key points about Hirschsprung’s disease in children:

Causes: Hirschsprung’s disease is primarily caused by a failure of nerve cells to develop in the lower portion of the colon during fetal development. This absence of nerve cells results in a lack of peristalsis (muscle contractions) in that part of the colon, preventing the passage of stool.

Symptoms: The signs and symptoms of Hirschsprung’s disease can vary depending on the extent of the affected area. Common symptoms include:

  • Failure to Pass Meconium: One of the earliest signs is a failure to pass the meconium (the first stool) within the first 24-48 hours after birth, which is typically normal for newborns.
  • Chronic Constipation: As the child gets older, they may experience severe constipation, often with abdominal pain and discomfort.
  • Vomiting: Some children may vomit green or brownish fluid (bile) due to the blockage in the colon.
  • Swelling or Distention of the Abdomen: The abdomen may appear swollen or distended due to the backup of stool.
  • Poor Growth: Children with Hirschsprung’s disease may have difficulty gaining weight and may exhibit failure to thrive.
  • Diarrhea: In some cases, liquid stool may leak around the blockage, causing episodes of diarrhea.

Diagnosis: Diagnosing Hirschsprung’s disease typically involves a combination of the following tests:

  • Physical Examination: The pediatrician may perform a physical examination to assess the child’s abdomen and overall health.
  • Rectal Biopsy: A rectal biopsy is the most definitive diagnostic test. It involves removing a small piece of tissue from the rectum to check for the presence or absence of ganglion cells.
  • Imaging Tests: X-rays, contrast enemas, or other imaging studies may be used to visualize the colon and identify the blocked area.

Treatment: The primary treatment for Hirschsprung’s disease is surgical. The affected segment of the colon that lacks ganglion cells needs to be removed. The two main surgical procedures used are:

  • Pull-Through Procedure: In this surgery, the affected portion of the colon is removed, and the healthy part of the colon is pulled down and connected to the rectum. This allows for more normal bowel function.
  • Temporary Ostomy: In some cases, a temporary colostomy or ileostomy may be created before the pull-through procedure. This involves bringing part of the healthy colon through an opening in the abdominal wall to allow stool to pass into a colostomy bag while the affected area heals.

Following surgery, children may require ongoing monitoring and management of bowel function and may benefit from dietary modifications or medications as needed.

Early diagnosis and treatment are important to prevent complications and improve the child’s quality of life. Children with Hirschsprung’s disease can lead relatively normal lives after successful surgery, although they may require long-term follow-up care to monitor their bowel function and overall health.

The content is provided for informational purposes only and is not intended as medical advice or as a substitute for medical advice of a physician