Hirschsprung's Disease! - Buy Bentyl

Hirschsprung's Disease!

Hirschsprung's Disease!

By Bryan Wright 10 Comments April 30, 2019



hey guys and welcome to harder gastro in today's video we'll be talking about Hirschsprung's disease and this is a common pathology which is mostly found in the pediatric surgery department of hospitals all around the world so let's learn today a little bit more about this disease and see what it's all about so to begin let's start with the definition so what is Hirschsprung's disease hirschberg's disease is a disorder of development that affects approximately 1 in every 5,400 to 7200 newborns annually the disease is characterized by the absence of ganya in the distal Koenen of the patient which ultimately results in a functional bowel obstruction for the child so from the definition of the disease we get that is a developmental disorder so it usually will affect newborns because a developmental disorder means that there's something wrong in the development of the fetus and when the baby is born we are able to appreciate the signs and symptoms that vein presents what we also get that it occurs in approximately one in every about 6,000 children every year and the most important part here being that there's an absence of ganglia or nerve cells that occurs in the distal colon of the patient so if you look at this little bubble of our colon this is the distal part of the colon so we have an absence here somewhat of these nerve cells or ganglia and you'll be able to appreciate this in the next slide we're not speaking more about the nerves and the exact reason that these children develop this disease so let's go on to the nerves so the nav plexus is during normal prenatal development cells from the neural crest migrate into the large intestine which is the colon to form 3 nerve plexuses these plexuses innervate the intestine they are the submucosal plexus which is also called the Meissner plexus the my enteric plexus which is also called the auerbach plexus and the smaller mucosal plexus all of these plexuses are finally integrated and involved in all aspects of bowel function including absorption secretion motility and the blood flow regulation so if we take a closer look at this little picture on my right we said we have these three plexuses which innovate the intestine or the colon right so here we have the submucosal plexus which is also called the Meissner plexus and then to my right here we have the my enteric plexus and within the innermost layer which is the mucosal layer of the bowel wall we have the smaller mucosal plexus so these three plexus is together help with the bowel function which include the absorption the secretion motility and blood flow regulation of this part of the colon so if we go back to our first slide again so we said here the disease is characterized by the absence of ganglia in the distal colon application so back to this slide what actually happens in these patients is we have the absence of the my enteric plexus and the smaller mucosal plexus so the plexus which is found within the mucosa and this plexus here which is the my enteric plexus is absent in these patients so if these nerves are absent you can imagine all the functions that the nerves are responsible for is not going to be able to be carried out so again we have the absorption secretion motility and I want to emphasize here the motility because the motility is very important and is one of the biggest reasons why we have the symptoms that we have in Hirschsprung's disease so let's go further so the mechanism of the disease in patients with hirschsprung disease both my enteric and submucosal plexus e's are absent in portions of the bowel the segment lacking neurons are called a ganglionic segments will suffer the lack of peristalsis and also become constricted so above we have a picture of our normal bowel so children unaffected with Hirschsprung's disease are born with a bowel that looks like this but in patients who suffer from Hodgkin's disease this is the area here this little narrow constricted part is actually where we have the absence of these my enteric and submucosal plexus so because we have the absence of these nerves here what actually happens is this part narrows down it's unable to undergo any sort of peristalsis it's unable to contract and it becomes constricted so the proximal non-affected segment of the bowel will struggle to push the content and will ultimately cause this portion to become distended with feces so if you look at this little sort of bubble above so this is the actual portion that is affected or the a ganglionic segment and this is a normal segment but because this feces that is collected here is unable to pass into this constricted segment it's going to collect here so even though this portion of the bar is not a ganglionic meaning it has a normal set of nerve plexuses it's unable to push this content because the content is too much and this portion is constricted so the content cannot go anywhere so even though this part is close to the a ganglionic segment it is not affected which means that the is nerve cells here but it will suffer distension and this is how these patients have a tendency to develop toxic megacolon so again this portion of our bowel is called the descending colon and the descending colon just holds the feces until it is passed out of the body so you can imagine this collection of feces and gas that is happening within this distended portion and it's not very good for the patient because there's all sorts of bacterias and microbiological agents which are found here and the more they grow and the more they multiplied the worse the prognosis is for our patient so the particularity is of the disease has Fran's disease is confined to the rectal sigmoid region in about 75% of cases so let's go back so this is the rectum and this is the sigmoid and this is the entire rectal sigmoid area so in 75% of cases of Hirschsprung's disease this is actually the affected segment or the ganglionic segment so this is a segment where those nerves are not found and you can see here in the picture it shows quite clearly that this segment is in fact the affected segment because we have this constriction of the rectum and the sigmoid portion of the colon in five percent of cases the entire colon is affected the stomach and the esophagus may also be affected in some cases Hirschsprung's disease can also present as part of a multi-system disorder such as in Down syndrome bardet-biedl syndrome Waardenburg syndrome Mowatt Wilson syndrome goldberg spritzen megacolon syndrome cartilage hair hypoplasia multiple endocrine neoplasia type 2 smut lemony Opeth syndrome and congenital central hyperventilation syndrome so basically the main point I'm trying to make here is I want you guys to draw a correlation between the development of Hirschsprung's disease in children who suffer from different genetic syndromes several genes and specific regions and chromosomes called loci have also shown or been suggested to be associated with Hirschsprung's disease so this is a small table below and I just put in the common ones patients who test positive for the RET gene PE D and RB gene G DNF gene the e D and 3 gene and these are the chromosomes that they have found on chromosome 10 thirteen five and twenty and these are different genes that contribute towards the development of Hirschsprung's disease and you can see why so here's a quick description of the functions of these genes and why they to the development of Hirschsprung's disease so the RET gene codes for the proteins that assists cells of the neural crest in the movement through the digestive tract in the development of the embryo so remember in the beginning I said we have these three nerve plexuses which actually developed from the neural crest so if we have a problem within the neural crest we're going to have a problem with the development of those different plexuses and this is how the RET gene contributes to the development of flashbangs the edn RB gene codes for proteins that connect the nerve cells that I just subtract so again if we have a problem here we're gonna have the disease present the GED NF gene is also protein that potentially promotes the survival of many types of neurons and finally we have the e D and three gene which is essential for the development of neural crest derived cell managers and enteric neurons so as you can see all these genes are required in one way or another for the proper development and function of those three nerve plexuses so now let's talk about some signs and symptoms of Hirschsprung's disease typically Hirschsprung's disease is diagnosed shortly after birth because of the presence of megacolon or because the baby fails to pass the first tool which is called the meconium within 48 hours of delivery normally ninety percent of babies passed their first meconium within 24 hours and 99 percent of them within 48 hours so if you look at my image below in the middle here we see a newborn which has not passed stool and you can see this completely extended abdomen and that is due to the build-up of fecal matter and essentially the development of megacolon in this baby because he's unable to pass stool the newborn may also have vomiting which it could be bile stain or fecal abdominal distension constipation which occurs in all patients because they are unable to pass the stool our overflow type of diarrhea or anorexia and poor feeding continuing with signs and symptoms some cases of Hirschsprung's disease are diagnosed later in life into the childhood but usually before the age of 10 these children may experience fecal retention and constipation so this is an older child as you can see and we still have the same sort of clinical picture we have a huge distension of the non effective segment which is proximal to the affected a ganglionic segment and you can see our child has the standard abdomen so we have fecal retention and constipation abdominal distension expressing a failure to grow in loss of subcutaneous fat and child is malnourished and suffers stunted growth and they may also be a degree of anemia so if you look closely at this child you can see if the presence of the rubs which means there's somewhat a loss of subcutaneous fat and the child appears malnourished might be shorter and you can see a lot of bones can be seen and the abdomen is distended so this is a classical picture of an older child with Hirschsprung's the diagnosis of the disease so together with the presenting signs and symptoms a full thickness rectal biopsy is needed the definitive diagnosis of Hirschsprung's disease is confirmed by a full thickness rectal biopsy demonstrating the absence of ganglion cells the specimen must be obtained at least 1.5 centimeters above the dentate line because again Geonosis may be able to present below this level disadvantages of the full thickness rectal biopsy include the necessity of general anesthesia and risks of bleeding and scarring so in order to definitively prove the absence of these nerve plexuses within the bowel wall and to confirm that the patient's distended abdomen constipation and toxic megacolon is due to the absence of these ganglionic cells within the colon wall a full thickness rectal biopsy is needed the rectal biopsy will be able to show once taken for on a slide we are able to look at it under a microscope and confirm the absence of these respective ganglia so the procedure of the full thickness rectal biopsy is shown above you can see this biopsy gun which is inserted into the child's anal canal and well into the affected segments and a biopsy is taken from that area we could also do a suction all biopsy the simple suction rectal biopsy has been used to obtain tissue for the histological examination rectal mucosa and submucosa sucked into the suction device and a self-contained cylindric blade excises the tissue the distinct advantage of the suction biopsy is that it can easily be performed at bedside diagnostic yield for the full thickness rectal biopsy is significantly better than that of sectional biopsy and below is just the histological view of the biopsy specimens which show in picture a we have the normal ganglion a dead bowel which is found in children who are unaffected with Hirschsprung's in image B we have a patient who suffers from Hirschsprung's and we can note the absence of those ganglia in the colon wall and C is another patient with Hirschsprung's we just use a different staining technique instead of the classic hematoxylin and eosin the staining procedure was done with acetylcholinesterase so continuing with other diagnostic procedures we could also use imaging studies and a plain abdominal radiograph may show distended bowel loops with paucity of air in the rectum so if you look at this image to my right above we have a supine abdominal film which demonstrates numerous dilated loops of bowel mostly likely down to the descending colon so we can see these widely widely distended loops of bowel and a lot of gas which is seen in the pelvis so keep in mind that even though these patients are not able to fuss stool or feces they are also unable to pass gas so this is also an important thing to keep in mind because a lot of times we are able to see the gas on an x-ray the barium enema for which classic findings of Hirschsprung's disease is a narrow distal colon with proximal nation however findings are difficult to interpret in neonates meaning children under the age of one month and do not demonstrate this transition zone in approximately 25% of the time retention of rectal contrast for longer than 24 hours after the barium enema also suggests a diagnosis of Hirschsprung's disease so on my picture on the right below we have the barium enema which shows a patient with Hirschsprung's disease as we can note here we see this distended loop of bowel so we have that toxic megacolon developing and we can see here this constricting tapering end which was classic for the rectal sigmoid area which is the most commonly affected and another test we could use is the anal rectal manometry which detects the relaxation reflex of the internal sphincter after distension of the rectal lumen this normal inhibitory reflex is presumed absent in patients with West France disease so now let's talk about some treatment options in Hirschsprung's disease so essentially all patients with Hirschsprung's need to be operated and the aid ganglionic segment has to be removed but of course we have to be able to treat the child before the surgical intervention is performed and this is where the preoperative treatment comes in so the nursing maneuver is a common preoperative treatment option in Hirschsprung's disease and here a well-lubricated catheter is passed into the anus past the recto sigmoid area because again the rector sigmoid area is most affected so we want to go past that affected segment so we reach into the pot where the feces is actually collecting which is in the normal segment so we have to push the catheter in past the a ganglionic segment into the dilated portion of the bowel so common question is how do we know that we are past the a ganglionic segment so when we reach this area passage of gas and feces will occur through the catheter so once we pass our catheter through this a ganglionic segment you're definitely going to notice the release of gas and you will also see the expression of the child's face of somewhat of a relief because once that is eliminated as we push that Foley catheter through the child is gonna be very happy that he was able to pass the gas and he's no longer got these abdominal cramping and pain so once we reach this area a passage of gas and feces will occur through the catheter and that's how we know we're in the correct place saline solution is then inserted and withdrawn multiple times through this catheter allowing for feces to be teared out so if you look at my image in the bottom you can see we use the Foley catheter a syringe a lubricant and a Mises Basin and saline solution and basically what we do is we bring out the area of the bowel which is collecting all the fecal matter so that we don't have the development of the toxic megacolon and this is done many times a day because newborns and infants can pass stool up to three to five times a day so the process is repeated multiple times during the day every day until the child is fit enough for surgery so this process is repeated over and over several times until the withdrawn liquid appears almost keya and that's how we know we were able to remove all that fecal matter from the bowel so the surgical treatment the treatment of Hirschsprung's disease consists of surgical removal which means the resection of the abnormal section of the colon followed by Rhian asta Moses initially a colostomy or ileostomy is performed to decompress the intestine divert the fecal stream and rest the normal bowel the stoma is placed above the affected bowel segment again we don't want it below because if it's below there will be no point of it we have to have it above the affected segments so that all that fecal matter can drain straight out into the stoma definitive surgery is done at an age of one year and here the non functioning bowel segment is removed with various pull through procedures including abdominal perineal and/or rectal or rectal rectal poulterer's so briefly just to explain here we have healthy sections and we have another healthy section here and in the middle we have this a ganglionic segment or the segment which is affected by Hirschsprung's disease that segment is rejected and the two normal segments where we have the normal nerve cells present and all those normal functions of the bowel which means contractions secretion blood flow regulation etc is reattached and once this procedure is done our patient is able to go on hitting a healthy normal life and that brings us to the end of this lecture on Hirschsprung's disease thank you guys so much for watching please make sure to LIKE comment subscribe and share I hope you find these lectures very informative and interesting if you have any suggestions you can drop them in a comment below and if you'd like to download a copy of this presentation you can click the link in the bio take care and bye for now

10 Comments found

User

xierxu

I am 28 and I have the symptoms, except gas escape in small quantities constantly making the area where I am smell bad.

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User

Kelly Yahyah

My son was diagnosed with in a week after birth, even though he had several bowel movements after birth. He is 24 years old living a normal life!!! He had the pull though surgery at 2 months old. There is hope!!!

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User

Hafizah Hoshni

Thank you so much 😊! 23/9/2018

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User

I

How many times does the preoperative procedure done?

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User

code box

Thanks for the information. My daughter is 2 years old. She does not pass stool even after 4-5 days. We use suppository for her. But sometime she pop by her own , but very very little.

When she was one year old she popped continuously for one month. She drinks very less water and is not very healthy. Even laxatives don't work properly. Are these syntoms if HP.

Is surgery is done from the stomoch side or through the rectum side

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User

Herlyn Solano

Thank you

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Chizzy I

Your videos are great!! I wish you did all the systems

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Hooria Nadeem

HIRSCHSPRUNG DIARIES please subscribe to this channel,  i will upload a story about my life with Hirschsprung and what happens before, during and after. please share this with anyone so I can help others to understand what they are going through my email is [email protected] if you need to ask questions, I will post the reply on my video blog THANKS VERY MUCH AND TAKE CARE ALL OF YOU 

PLEASE SUBSCRIBE AND SHARE THIS LINK https://www.youtube.com/channel/UCxor3yTxWCIHc99B7HokryQ/featured?view_as=public

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Kazi Mahafujer

"HIRSCHSPRUNG DIARIES please subscribe to this channel everyday in between 11pm at night and midnight UK time i will upload a story about my life with Hirschsprung and what happens before, during and after. please share this with anyone so i can help others to understand what they are going through my email [email protected] if you need to ask questions then i will post the reply on my video blog THANKS VERY MUCH AND TAKE CARE ALL OF YOU

https://www.youtube.com/channel/UCxor3yTxWCIHc99B7HokryQ/featured?view_as=public

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User

Joshi Govender

Your channel rocks you are the best YouTuber ever!!! ☺️☺️

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