Hirschsprung disease (congenital aganglionic megacolon) – causes & symptoms


Hirschsprung disease is also known as congenital
aganglionic megacolon, so Hirschsprung’s is a disease that’s present since birth,
in which a ganglion, or cluster of nerves is missing, which ultimately leads to a blocked
colon, causing it to enlarge. Alright, so the intestines move waste through
the bowels via peristalsis, which is this series of coordinated wave-like muscle contractions
that helps move feces in one direction, and this is essentially automatic, happening without
you even having to think about it. The type of muscle that causes these contractions
is smooth muscle, as opposed to skeletal muscle or cardiac muscle. In the gut, there’s a layer of smooth muscle
just under the submucosa, which sits under the mucosa, which is the innermost layer of
the gut nearest to the lumen. On the other side of the smooth muscle layer
is the serosa. Now if we look closer at the smooth muscle
layer, it’s actually composed of the circular muscle layer, arranged in circular rings which
contract and constrict the gut behind the feces, which keeps it from moving backward,
while the longitudinal muscle layer, arranged along the length of the gut, relaxes which
lengthens and therefore pulls things forward. Also though, within these layers are two plexuses,
or networks of nerves, which are made up of ganglia—which are clusters of individual
nerves, which help coordinate muscle contraction and relaxation. First there’s the myenteric plexus, also
known as Auerbach’s plexus, which when activated, primarily causes smooth muscle relaxation. The myenteric plexus connects with the second
plexus—the submucous plexus, or also known as Meissner’s plexus, which is buried in
the submucosa and is responsible for helping to control blood flow and epithelial cell
absorption and secretion. These groups of nerves are clearly super important
for normal bowel function. For people with Hirschsprung’s disease,
both these plexuses are gone—they’re completely absent in some parts of the gut. Why is that? Well during fetal development, there are cells
called neural crest cells, which are basically a group of fetal cells that migrate away and
differentiate into a variety of different cell types. In this case, some of them become neuroblasts,
and eventually the nerve fibers of the plexuses in the gut. Starting from the mouth, the neuroblasts start
migrating toward the anus. Around week 8 of development the neuroblasts
get to the proximal colon of the gut, and pass through the distal colon, and around
week 12 they finally the reach rectum. A disruption of that neuroblast journey in
that time window, means that nerve fibers don’t develop in the rectum and parts of
the colon. Two specific genes that are thought to be
important for migration and development of these nerve fibers are RET and EDNRB, so mutations
in either could lead to an absence of the plexuses. Also, mutations in the RET gene have also
been linked to Down syndrome, which might help explain why Down’s syndrome is associated
with Hirschsprung disease. Okay, so without these nerves, peristalsis
in the gut is seriously impaired, because those muscles tend to lose the ability to
relax, and they stay in their default contracted position, which essentially blocks the movement
of feces. Babies that are born with Hirschsprung therefore
fail to pass the meconium, their first stool, a process that usually happens within the
first 2 days after birth. The rectum and the distal sigmoid colon, which
are the areas closest to the anus are usually affected, so feces builds up before the obstruction,
which causes serious constipation as well as colon dilation, or megacolon, which is
a risk for rupture. For diagnosis, an abdominal X Ray with contrast
dye might shows an enormous megacolon full of stool that can’t be easily pushed out,
but a definitive diagnosis is by rectal suction biopsy of the narrowed area in the colon,
where both the mucosa and submucosa are extracted, as opposed to a normal biopsy where just the
mucosa is taken. Remember that those plexuses are in the muscle
layer or submucosal layer, so a normal biopsy with just the mucosa wouldn’t cut it, you
need a sample of submucosa to see if the submucosal plexus is there or not. Treatment is typically surgical resection
of the area that’s lacking the nerve fibers, and then the healthy end is connected to the
anus. Alright, so as a recap, Hirschsprung disease
is a congenital condition where the nerve plexuses don’t develop quite right in the
colon, which leads to dysfunctional peristalsis and a plugged up colon. Thanks for watching, you can help support
us by donating on patreon, or subscribing to our channel, or telling your friends about
us on social media.

Author Since: Mar 11, 2019

  1. the best medical channel I've ever seen ..I shared it with my friends in medical school .. you're the best places keep doing this ..

  2. it's you guys the one who deserve thanks for this effort ❤ .. and I'm from ibn sina national college for medical studies in Saudi Arabia .. and I have a question if you don't mind .. can we suggest some diseases that we would like to see on the channel ?
    thank you very much ..
    your the best 👍👍

  3. as born with Hirschsprung's disease and I am so convinced that this is how I ended up with learning disabilities and endocrine tumors; no one can tell me different. I know how I grew up. I had Hirschsprung's since I was an infant and for some reason, I faked the pain; I guess that an infant can fake Hirschsprung's; how an infant can fake it, I will never know. The disease is so incredibly painful and people say the most ignorant hateful things. They tell me I am doing this for attention, hell no, I will do a lot for attention but not fake a disease. I hear that I should eat more vegetables; look into my fridge and you will see more vegetables than anything else. Even in this day and age, we need to educate the public on this disease and what not to say to someone with Hirschsprung's. This disease is too painful and so misunderstood; too sad.
    Comment from: Jude Anne, 45-54 Female (Patient)Published: February 04
    I still want answers and I won't give up until I get one on why I was not diagnosed with Hirschsprung's disease until adulthood. I did have it since infancy. I am so angry because I had learning disabilities and I had to go to school in severe pain and was bullied. Somehow I made it to college and the day after graduation, the Hirschsprung's gave in. I am also convinced that this disease also caused my endometrial tumors.
    Comment from: Avenging Hyena, 45-54 Female (Patient)Published: December 02
    Just loads of thanks to the medical industry. I have been severely constipated since infancy and nothing was done about it until the diagnosis came at age 23 of short-segment Hirschsprung's. This disease was discovered in 1886 by Dr. Harald Hirschprung and my doctors could not figure it out. I am currently on four Senokot capsules a day. When all else fails I do drink Coca Cola Classic, and for me, it does the trick. I do deserve an answer on why I did not receive a proper diagnosis. No one should have to live with a disease for over 20 years and not have the proper information on it.

  4. Hey guys!I must say your lectures are now beating pathoma lecturez🤗🤗 Keep uploading in free of cost☺☺
    Thanks!!

  5. I have heard about you through wikipedia and the video about minimal change kidney disease. This is only the second video from you that I watched. I am amazed, keep up the good work, support for this channel! You got yourself a sub. 🙂

  6. Great video! Thanks! At this point in the research, I am interested in the fact that Hirschsprung's Disease is associated with loss of function mutations in the RET proto-oncogene. Along with this, gain of function mutations in the RET proto-oncogene are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia. With a remarkably limited understanding of genetics, I find myself eager to know whether patients with Hirschsprung's Disease or their doctors have reported any potential link between Hirschsprung's and the development (or conspicuous lack thereof) of any of the above-mentioned cancers. Any and all insights or experience welcome! Thanks!

  7. I'm having Gen Surgery Paper 2 tommorow and before every exam i use to recap topics frm here and it helps a lot. Thank you is a very little term for your explanatory videos. 🖒

  8. One of my brother just passed away today because of this disease, it is just sad that many people suffer from various types of disease, and they are hard to be treated

  9. Seriously!! This is great! I looked at this at first like 😦 "uhhhhhh what?" You make it so simple! SUBSCRIBED!! lol thank you and please keep them coming!

  10. 👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻👍🏻

  11. Hirschprung's is also associated with High-functioning Autism- which i just learned i had in my 50's. Did the medical industry not know what tehy were doing back in the 60's.

  12. [report] I found that there's a problem with the subtitle. it's obviously irrelevant to the content of this video. please check.

  13. I ca.t believe i suffer this disease. Anyone who happens to read this, i seek your prayers🙏🙏🙏I'm speechless

  14. Took 3 hours to read the same thing from my book and still couldn't remember stuff
    You just made my life so much easier! thank you😃

  15. your explanation was so good …….. I'm fan of this channel! can you please tell me if ribbon shaped stool is the clinical feature of this disease?

  16. Ur videos r really helpful nd better then max videos on you tube i can say this easily u r the best in this field….keep doing good work..

  17. I Suffer From Hirschsprung and I Sometimes get bullied but not anymore thanks that I had a surgery a bit ago (I have to enter a whole in my Bellybutton and it takes around 3 years for me to stop entering the whole)

  18. Dr najeeb is also best but the way u r saving time with clearing every concept is worthy,,,no words to explain ur exceptional teaching power❤👍

  19. "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

  20. I have the disease.. I am one of the most fortunate of the disease, i’ve lived with it for 9 years, and i’m clearly struggling

  21. Amazingggg.thanku so much. These vids are so helpful before 4 days of my examination. Gives a quick and quality revision

  22. Thanks from 2018 I was born with this disease and I never liked to talk about it or tell anyone about it but this video gave me confidence that it's alright thanks so much

  23. I had this disease since birth and had to do a surgery when I was 3 yr old.
    They did not let me eat or drink after surgery.

    10 years passed and I am living a normal life C:

  24. that was awesome!! I love learning with your osmosis!!!! you are truly saving many lives!!! 👏👏👏👏👏👏👏👏😉😘😘

  25. can you please do embryology videos?? a small request from a med student here!!! pls…pls…pls…pls…🙇🙇🙇🙇🙇

  26. Dear medical students, I have a question, what if a baby without down syndrome, (otherwise perfectly health) has this condition? What could be the reasons

  27. Excelente video, me ilustraron en 5 min todo lo que los doctores tienen casi 3 semanas explicándonos. Sería genial si le colocaran subtítulos en español para aquellos de lengua hispana. Felicitaciones! Muy bueno!!

Related Post