Introduction
Hirschsprung’s disease is a rare congenital condition that affects the large intestine (colon) and causes problems with passing stool. It occurs when nerve cells (ganglion cells) are missing from a segment of the bowel, resulting in a lack of normal muscle contractions (peristalsis) in that area. This leads to severe constipation or intestinal obstruction, most commonly presenting in newborns and young children.
Causes
Hirschsprung’s disease is caused by the failure of nerve cells to develop in parts of the colon during fetal growth. The exact reason for this developmental problem is not fully understood, but genetic factors play a significant role. The condition is sometimes associated with other congenital disorders, such as Down syndrome.
Symptoms
Symptoms of Hirschsprung’s disease usually appear shortly after birth, but milder cases may not be diagnosed until later in childhood. Common symptoms include:
- Failure to pass meconium (the first stool) within 48 hours after birth
- Chronic constipation
- Abdominal swelling (distension)
- Vomiting, which may be green or yellow (bilious)
- Poor feeding and slow growth
- Explosive stools after a rectal examination
- In older children, chronic constipation, abdominal distension, and poor weight gain
Severe cases can lead to a life-threatening infection called enterocolitis, with symptoms such as fever, diarrhea, and lethargy.
Diagnosis
Diagnosis of Hirschsprung’s disease involves:
- Medical history and physical examination
- Abdominal X-rays or contrast enema to visualize the colon and identify areas of narrowing or blockage
- Anorectal manometry to measure the function of the rectal muscles
- Rectal biopsy to confirm the absence of nerve cells (the definitive diagnostic test)
Treatment Options
The main treatment for Hirschsprung’s disease is surgery to remove the affected segment of the colon that lacks nerve cells. The healthy part of the intestine is then connected to the anus. Surgical techniques include:
- Pull-through procedure (the most common)
- In severe cases, a temporary colostomy may be needed before definitive surgery
After surgery, most children can pass stool normally, but some may have ongoing issues with bowel function, such as constipation or incontinence.
Prevention
There is no known way to prevent Hirschsprung’s disease, as it is a congenital condition. Genetic counseling may be helpful for families with a history of the disease.
When to Seek Medical Care
Seek immediate medical attention if your child:
- Fails to pass stool within the first 48 hours of life
- Has severe constipation, vomiting, or abdominal swelling
- Develops symptoms of enterocolitis (fever, diarrhea, lethargy, or explosive stools)
Takeaway
Hirschsprung’s disease is a rare but serious condition that affects bowel function in children. Early diagnosis and surgical treatment are essential for preventing complications and supporting healthy growth and development.