Hirschsprung disease (HD) is a congenital condition that affects the large intestine (colon) and causes problems with passing stool. It is due to missing nerve cells in the muscles of a baby's colon. This disorder leads to severe constipation or intestinal obstruction in the newborn.
The primary cause of Hirschsprung disease is the absence of
ganglion cells in the intestinal muscles, which are crucial for coordinated bowel movements. This condition occurs during fetal development when nerve cells fail to form correctly in segments of the colon. Although the exact cause is unknown,
genetic mutations are often implicated.
The symptoms of Hirschsprung disease can vary depending on the severity of the condition and the length of the affected bowel segment. Common signs include:
Several tests and procedures are used to diagnose Hirschsprung disease:
Rectal biopsy: This is the most definitive test where a small piece of the rectum is examined for the absence of ganglion cells.
Contrast enema: This imaging test uses a special dye to highlight the colon and identify any abnormalities.
Anorectal manometry: This test measures the muscle movements in the rectum and anus to detect abnormalities.
The primary treatment for Hirschsprung disease is surgery to remove the affected portion of the colon. The most common surgical procedures include:
Pull-through procedure: The diseased section of the colon is removed, and the healthy portion is pulled through to the anus.
Ostomy surgery: In severe cases, an ostomy (a surgically created opening on the abdomen) may be created temporarily or permanently to allow stool to bypass the affected part of the colon.
Post-operative care includes monitoring for complications such as infections or bowel obstructions and ensuring the baby gains weight and thrives.
With timely and appropriate surgical intervention, most babies with Hirschsprung disease can go on to live healthy lives. However, some long-term complications may include:
Infections such as
enterocolitis Constipation or incontinence
Nutritional deficiencies
Regular follow-ups with a healthcare provider are essential to manage these potential issues.
Currently, there are no known preventive measures for Hirschsprung disease as it is a congenital condition. However, genetic counseling may be beneficial for families with a history of the disorder to understand the risks and implications.
