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Hirschsprung's Disease

An analysis of the progression of the treatment and diagnosis of the disease, as well as some facts and lifestyle changes that are brought about by it.
by

Josh Beveridge

on 14 June 2010

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Transcript of Hirschsprung's Disease

Hirschsprung's Disease A Description: Hirschsprung's Disease, or aganglionic megacolon, is a genetic condition characterized by the absence of ganglion cells in the colon, preventing regular peristalsis. A comparison: And now an example of a case of Hirschsprung's. Here, we see the regular intestine in an infant. As you can see, the colon is large and swollen. This is due to the fact that the muscle layer in the colon has over-developed and bloated due to a surplus of feces. The lower half is withered and weak because of the lack of nerve cells. Effects of Hirschsprung's Disease Constipation Abdominal Distention Delayed passage of meconium Abdominal distention is a very common condition in which the person experiences a bloated feeling, accompanied by the feeling of being abnormally full. The belly can be visually distented and symptoms include passing gas and mild cramps. The most common cause of constipation in infants is Hirschsprung's Disease. Constipation is the abnormal passage of stool in which the stool becomes lodged in the colon and the person does not expell the feces from the body. Feces build up in the colon, resulting in distention, loss of apetite and in severe cases, a complete blockage of the colon. Delayed passage of the meconium in an infant is, as stated earlier, a reason for the infant to be tested for Hirschsprung's. The missing ganglion cells prevent the meconium from passing regularly within the average time. Diagnosis Hirschsprung's Disease is usually diagnosed early in the child's life. By early, this means within the first months after birth. An infant should be checked for Hirschsprung's Disease if the meconium has not been passed within the first 48 hours of birth. While this is not always a reliable method, it is important to have the problem diagnosed. Before we begin, I'd like to give a definition of the word "meconium." Meconium: the earliest stool passed by an infant. Composed of bile, mucus, and epithelial cells
An example of meconium. Causes Currently, the cause of Hirschsprung's Disease is unknown. Doctors have assumed that it is a genetic dissorder, passed down from carrier parents, but no defined cause has been discovered as of yet. Research is still undergoing to determine the cause. A quick fact: as a sufferer of Hirschsprung's Disease, I was not diagnosed until the age of two because when I was born, I passed my meconium within the alotted time. Doctors assumed constipation until I was finally diagnosed and treated. Cases in Canada Treatment According to Statistics Canada, 14 people died of Hirschsprung's Disease between the year 2000 and 2006. Due to the current treatments and relatively accurate diagnosis of the disease, many people survive and even live normal lives after treatment. According to studies done at the University of Ottawa, there are three main theories for the appearance of the disease.

"The first and most popular theory holds that there is a defect in the vagal neural crest resulting in disordered neuronal migration and population of the distal gut."

"The second theory holds that the enteric neuronal precursors colonize the gut normally, but subsequently, there is a region specific neuronal cell death as a result of some toxic event."

"The third theory suggests that the enteric microenvironment is abnormal and as such, unable to support or else locally excludes enteric precusors." In the past, Hirschsprung's Disease was easily mistaken for simple constipation in the patient. Docters provided patients with laxatives that produced temporary relief of the symptoms, but in order to maintain regular bowel movements, laxatives were needed to be taken regularly in order to allow stool to pass. If the person is suspected of having Hirschsprung's, there are multiple ways for the doctor to make a diagnosis.

The first is a barium enema. Barium is inserted in to the colon and an x-ray is taken. Someone with Hirschsprung's will have an area of their colon that appears thinner than usual.

Manometry is another, less accurate test. A balloon is inflated in the rectum. Normally, the anal muscles will relax, but if they don't Hirschsprung's might be the problem.

The most accurate test is a biopsy. The doctor removes a small portion of the colon and manually checks for the ganglion cells. If they aren't there, Hirschsprung's is the problem. Pull-Through Surgery Treatment of Hirschsprung's today depends on the severity of the disease and the age of the patient. Originally, the process began with a colostomy. Doctors cut open the colon and created an artificial path for stool to exit into a small bag on the outside of the body. When the colon was clean, pull-through surgery was performed. Pull-through surgery is now the most common solution to Hirschsprung's and more often than not, a colostomy is no longer needed.

Here we see a diagram of the infected colon. The first step is to remove the diseased portion of the colon. This leaves the rectum and functional portion of the colon. The colon and rectum are reattached and allowed to heal. Around 85% of patients that have a pull-through surgery perfomed lead normal lives after surgery. The remaining 15% will have either constipation or a lack of control in which laxatives or a stoma must be used respectively. A stoma is similar to the previously mentioned colostomy. What we've learned... Hirschsprung's Disease has helped physicians understand major issues with constipation of the colon. The study involved is still ongoing, but initial understanding of ganglion cells helped educate doctors about peristalsis and the movement of fecal matter through the digestive system. That being said, there is still a lot of research to be done surrounding the cause of Hirschsprung's. Infants with the disease are commonly found to have Down Syndrome and other genetic problems. Personally, I'm one hell of a lucky patient. Works Cited

Box, Checking This. "Digestive System Disease :: Congenital Megacolon -- Britannica Online Encyclopedia." Encyclopedia - Britannica Online Encyclopedia. [Online] Available <http://www.britannica.com/EBchecked/topic/163199/digestive-system-disease/45426/Congenital-megacolon>. 09 June 2010.

"Business Cliparts Download for Free, Pictures, Images, Woman Teacher, Schoolmistress, Bookkeeper, Accountant, Politican." Clip Art Free Images, Cartoon Cliparts for Office Presentations, Graphics, Gifs, Pics, Pictures, Greeting Cards Download. [Online] Available <http://www.clipproject.info/Clipart_Berufe_Seite_4.html>. 09 June 2010.

“Digestion and Digestive Systems: Aganglionic Megacolon.” Encyclopedia Britannica. 1989 ed.

"File:Meconium.jpg." Wikipedia, the Free Encyclopedia. [Online] Available <http://en.wikipedia.org/wiki/File:Meconium.jpg>. 09 June 2010.

"Hirschsprung's Defined." The Hirschsprung's & Motility Support Network (HMDSN). [Online] Available <http://www.hirschsprungs.info/hd.html>. 09 June 2010.

"HIRSCHSPRUNG'S DISEASE." Université D'Ottawa - University of Ottawa. [Online] Available <http://www.medicine.uottawa.ca/nsc/eng/hirc.html>. 09 June 2010.

"Hirschsprung's Disease." [Online] Available <http://64.143.176.9/library/healthguide/en-us/support/topic.asp?hwid=tp12696>. 09 June 2010.

"Hirschsprung's Disease." Wikipedia, the Free Encyclopedia. [Online] Available <http://en.wikipedia.org/wiki/Hirschsprung's_disease>. 09 June 2010.

"Meconium | Define Meconium at Dictionary.com." Dictionary.com | Find the Meanings and Definitions of Words at Dictionary.com. [Online] Available <http://dictionary.reference.com/browse/meconium>. 09 June 2010.

"Statistics Canada: Canada's National Statistical Agency." Statistics Canada: Canada's National Statistical Agency / Statistique Canada : Organisme Statistique National Du Canada. [Online] Available <http://www.statcan.gc.ca/start-debut-eng.html>. 09 June 2010. Thanks for watching!
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