What is Hirschsprung’s Disease? Symptoms, Diagnosis, Treatment

October 26, 2023 Lifestyle Diseases 116 Views

English

Hirschsprung’s disease is a congenital condition in which certain nerve cells are missing from the colon (large intestine). This absence of nerve cells disrupts the normal movement of the bowel, leading to difficulty passing stool and causing intestinal blockages. 

It typically presents in infancy or early childhood and requires surgical treatment to remove the affected portion of the colon.

What are the symptoms of Hirschsprung’s condition ?

Common symptoms of Hirschsprung’s disease in infants and children may include:

  • Failure to pass meconium (the first stool) within 48 hours of birth
  • Chronic constipation ( Know more about- What is Constipation ? )
  • Abdominal distension (swelling)
  • Vomiting
  • Poor weight gain
  • Foul-smelling, explosive stools

Symptoms can vary depending on the length of the affected colon segment. In some cases, Hirschsprung’s disease may not be diagnosed until later in childhood or adulthood, leading to symptoms such as chronic constipation and abdominal discomfort. 

How is Hirschsprung’s Disease diagnosed?

Hirschsprung’s condition is typically diagnosed through a combination of medical evaluation and diagnostic tests, including:

  • Physical Examination: A healthcare provider will conduct a physical exam to assess the child’s abdomen and may ask about their medical history and bowel habits.
  • Rectal Exam: This involves inserting a gloved finger into the rectum to feel for abnormalities or blockages.
  • Imaging: X-rays or contrast enemas may be used to visualize the colon and identify any blockages or abnormalities.
  • Biopsy: The definitive diagnosis is often made through a rectal biopsy. A small tissue sample is taken from the rectum and analyzed to determine if ganglion cells (nerve cells) are present. The absence of these cells in the biopsy is a characteristic sign of Hirschsprung’s disease.

Once diagnosed, treatment usually involves surgery to remove the affected portion of the colon and establish proper bowel function. 

What is the treatment for Hirschsprung’s condition ?

The primary treatment for Hirschsprung’s disease is surgical intervention. The specific surgical procedure used may depend on the extent of the affected colon and the patient’s age. Here are the key approaches:

  • Pull-Through Procedure: The most common surgery involves removing the portion of the colon without nerve cells (aganglionic segment) and then pulling down the healthy portion of the colon and attaching it to the rectum. This allows for proper bowel function.
  • Staged Surgery: In some cases, if the child is very ill, a staged approach may be used. This involves creating a temporary colostomy (an opening in the abdominal wall through which stool passes) to divert stool away from the affected area. After some time, a second surgery is performed to reconnect the healthy colon to the rectum.

The surgical procedure aims to alleviate the symptoms of constipation, blockages, and other complications associated with this disease. Following surgery, most individuals can lead relatively normal lives, but they may need ongoing monitoring and support, particularly in early childhood, to ensure their digestive system functions properly. ( Know more about- What is Liver Transplant Surgery ? )

How successful is treatment of Hirschsprung’s condition in kids?

The treatment of Hirschsprung’s condition in children is generally successful, especially when diagnosed and managed early. The success of treatment depends on several factors, including the extent of the affected colon, the age at which the condition is diagnosed, and the skill of the surgical team. Here are some key points:

  • Early Diagnosis: Early diagnosis and treatment are crucial for a better outcome. The longer the condition goes undiagnosed and untreated, the greater the risk of complications.
  • Surgical Success: Most children experience significant improvement in their bowel function and overall quality of life after the surgical removal of the affected segment of the colon. The pull-through procedure is highly effective.
  • Long-Term Outlook: Following surgery, many children with Hirschsprung’s disease go on to lead normal lives without major digestive issues. However, long-term follow-up is important to monitor for any potential complications.
  • Complications: While the overall success rate is high, there can be complications, including bowel problems, enterocolitis, and bowel obstruction. Close medical supervision can help manage these issues.

The prognosis is generally positive with early diagnosis and appropriate treatment. Doctors work to provide the best care and support to ensure the child’s long-term well-being. Get diagnosis and best treatment for Hirschsprung’s disease at H N Reliance hospital Mumbai. 


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