Hirschsprung Disease: What You Need to Know | Cincinnati Children's

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Hello, my name is Jason Frischer and I’m the director of the Colorectal Center here at Cincinnati Children’s. Today I’m going to give you an introduction to Hirschsprung’s disease and what you need to know if your child is diagnosed with Hirschsprung’s disease. Hirschsprung’s disease is a condition that primarily affects the large intestine or colon. Is a condition that involves what we call Ganglion cells or the cells or nerves that allow the colon to relax. So the stool is getting backed up behind a segment of the colon that is not relaxing.
What are the signs and symptoms of a patient that might have Hirschsprung’s Disease. The first thing that we look for is the failure to pass stool or meconium in the first 24-48 hours of life. Often these patients also present with abdominal distension and potentially also vomiting. The diagnosis for Hirschsprung’s Disease typically starts with a contrast enema. This is a dye study that gives me a roadmap of the colon where I can see areas of the colon that might be contracted and other areas that are dilated. This gives me hints that Hirschsprung’s disease might be the diagnosis
To get the true diagnosis we need to do a biopsy. And that can be performed in one of two ways. We can either do a suction rectal biopsy which can be performed at the bedside or in the clinic. Or we have to do a full thickness biopsy when more tissue is required. These specimens are then sent to the pathology lab where they are looked under the microscope for Ganglion cells and a true diagnosis is made.
Let’s talk about the treatment for Hirschsprung’s Disease. The ultimate treatment for Hirschsprung’s Disease is surgical. There are three surgical treatments for Hirschsprung’s Disease The Swenson procedure, The Soave procedure and The Duhamel procedure. The Swenson procedure is a full thickness pull-through. The Soave procedure creates a cuff and pulls the ganglionated bowel between that cuff. And finally The Duhamel procedure creates a pouch for the pull-through procedure. These three procedures all achieve the same goal and it is really dependent on your surgeons comfort level which is the right procedure for your child. If you have any other questions we would love to hear from you. You can contact me personally at Jason.Frischer@cchmc.org or the Colorectal Center at Colorectalcenter@cchmc.org our phone number is 513-636-3240 have a great day.

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