What is Hirschsprung Disease?
Hirschsprung disease is a congenital malformation where the nerves and ganglion cells within the colon do not develop properly. This occurs in 1 out of 5,000 live births. This underdeveloped area can range from a small section to the entire colon even extending to the small intestine. The lack of ganglion cells prevents normal peristalsis (passage of stool) through the affected portion of the colon. Most babies with Hirschsprung disease present with delayed passage of stool at birth, abdominal distention, explosive, foul smelling stools, fever, and in severe cases failure to thrive.
How is it treated?
Hirschsprung disease is diagnosed with a rectal biopsy and evaluated with a contast (dye) x-ray study. This evaluation of the colon gives the doctors an estimate of where the segment ends in order to plan for the child’s treatment. For those with a shorter segment of bowel effected, surgery can be done within the first few weeks of life as long as they are clinically well. For those with a longer segment, an ileostomy or colostomy may be necessary to avoid stool passage through that effected area. In most children, that ostomy can be taken down and pulled through to the anus in the future.
Will my child need treatment long term for their disease?
Children with Hirschsprung disease will require follow up care throughout their life. Although the piece of colon that was not functioning properly has been removed, the remaining colon may require help with moving stool through. For those with disease effecting a large portion of their colon, medications may be required to slow down the stool. For those with a smaller area, medications may be needed to speed up the stool.
In addition, patients with Hirshsprung disease lack proper relaxation of their internal anal sphincter which can cause issues with proper emptying. Even after surgery, this issue remains and may need to be treated with Botox injections until children are able to learn to overcome it. There are bowel management medications and regimens that can help with this process.
It is also important that children with Hirshsprung disease are monitored for enterocolitis, or inflammation of the inner lining of the bowel, as it is more common in this patient population due to alterations in the immune system of their intestinal lining. The best way to prevent enterocolitis is to know the symptoms and have a good bowel regimen to prevent constipation. These symptoms include abdominal distension, fever, vomiting, and explosive foul smelling stools. If any of these occur, it is important that you contact your medical team.
Meet Dr. Richard Wood
As the Director of Colorectal Surgery for the Center for Colorectal and Pelvic Reconstruction, Dr. Wood is one of the primary colorectal surgeons serving patients of the CCPR. Dr. Wood is uniquely trained and experienced in using specialized techniques in minimally invasive and robotic surgery for colorectal procedures – reducing the healing time for his patients and delivering the best outcomes possible.
Dr. Wood has performed hundreds of procedures for complex colorectal reconstructive surgeries for conditions such as imperforate anus, Hirschsprung disease, cloaca and vaginal replacement, and he routinely sees patients for second opinions or who have not been able to be helped elsewhere.
He is an avid researcher, having published many peer reviewed journal articles on colorectal topics, as well as book chapters on cloacal malformations, anorectal malformations and Hirschsprung Disease.
Dr. Wood completed his fellowship training at the Red Cross War Memorial Children’s Hospital in Cape Town, South Africa, one of the most prestigious institutes for pediatric care in the world. The hospital serves as a resource for the care of complex colorectal conditions for all of Africa. He is dedicated to helping children from around the world and currently serves as a surgical partner on the Colorectal Team Overseas, where he performs surgeries in addition to training and educating surgeons in complex colorectal care.
Click here to learn more about Dr. Wood.
For more information about the Center for Colorectal and Pelvic Reconstruction at Nationwide Children's Hospital, click here.