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Hirschsprung’s Disease

Hirschsprung’s Disease is a rare congenital disorder that affects the large bowel (colon), which causes severe constipation and/ or bowel obstruction. This disease affects one in 5,000 babies born.

In Hirschsprung’s Disease, the ganglion cells that control the muscles, which squeeze faeces through the bowel and rectum are missing in a section of the bowel. This means that faeces will get stored up at the point where the nerve cells are missing, become impacted and cause an obstruction.

We don’t know what causes this condition at present. What we do know is that the cells didn’t form fully in the womb. A number of genes have been identified now that cause Hirschsprung’s but not all children with the condition will have these genes. The most common form of Hirschsprung’s affects the rectum and lower colon. Even more rarely, Hirschsprung’s can affect the entire colon.

How is a Hirschsprung’s Disease diagnosed?

Hirschsprung’s will be picked up from birth in many cases. It may be first considered if a baby fails to pass meconium (the faeces passed in the first day of life). For some children it may be picked up when they are older and presents itself as chronic constipation. The disease is also associated with megacolon and children will also suffer from a distended abdomen and may vomit green bile.

Hirschsprung’s can be diagnosed from an x-ray or a contrast enema. The disease can only be definitively diagnosed by taking a biopsy of the lower colon or rectum. The piece of tissue taken will then be examined to check for the presence of ganglion cells.

To find out about treatments for Hirschsprung’s Disease and further resources, click the links above to navigate to the pages.

THE INFORMATION ON THIS PAGE IS A GUIDE ONLY. IT IS IMPORTANT THAT YOU SPEAK TO YOUR GP OR A QUALIFIED HEALTH PROFESSIONAL BEFORE UNDERTAKING ANY TREATMENTS.