42 Unbelievable Cases Where Doctors Faced Rare Diseases That Defied All Odds
Eventually, we discovered that he did have polycythemia vera, but had been slowly bleeding from an obscure GI bleed, a tiny blood vessel in his small intestine that would come in and out and bleed small amounts into his stool. In essence his body was self-treating having too much blood by doing its own bloodletting, for years.
One week he bled a bit too much and got out of whack and ended up in the hospital, which is where I met him. Crazy case.
Em coup de Sabre. It’s a rare form of scleroderma that makes your skin looks like you’ve been cut by a knife down the center of your face. This poor lady’s mandible actually split in half.
A Marjolin ulcer. It’s a type of cancer that grows on damaged skin – mostly burned skin. I handled a patient with one on junction where her neck and back met (I was the anesthesiologist) and the patient can’t lie down flat due to the pain, which made placing an endotracheal tube way more difficult.
Clinical lab scientist here, doing the testing. I once saw mold growing from a brain tissue – patient was immunocompromised. The type of mold growing was common environmental flora: Alternaria species.
A toddler was brought in to the ER for a large hand burn. he placed his hand on a radiator and kept it there until his hand got a 2nd degree burn. the thing was he didn’t cry until his mom freaked out about it. and he didn’t cry when i was cleaning his blistering wound. turns out he doesn’t feel pain (congenital insensitivity to pain). he was an adorable kid!
Patient admitted for something unrelated starts deteriorating for no discernible reason. Has some mild generalized abdominal pain, but other than that no specific symptoms. However, he keeps worsening to the point where he’s barely hemodinamically stable.
On the abdominal contrast CT, there’s fluid everywhere. Organs pushed against the abdominal wall. Just one enormous grey puddle from the top of his pelvis to his diaphragm.
And then, at some point, there’s a scribble of white pretty much smack dab in the middle of it all (in this context, signifying active bleeding) It was shaped like the world’s smallest firework pop, and it was nowhere close any major vessel. Everyone was dumbfounded for a hot minute.
It turned out to be a spontaneous, atraumatic rupture of the cystic artery. No surgeon in the building had ever seen one.
Dude underwent embolization and made it out completely unscathed.
Objective tinnitus- I could lean close to the patient’s ear and hear a ringing noise coming out.
Central Deafness- patient had an anoxic brain injury and was essentially deaf even though there was nothing wrong with his ears.
Edit- I went to bed and this blew up! Thanks for the awards! To answer some of the questions below: the objective tinnitus was following an ear surgery. The patients middle ear muscles were twitching constantly causing a ringing sound and her eardrum was acting like a speaker so we could hear it outside her head. This does not happen often and I will probably never see it again. I don’t know what ended up happening with her but I think the ENT did some revision to try to fix it. This is very different than subjective tinnitus (the normal kind where the ringing is only heard in your head). That is caused by a lot of different things, but we generally don’t know why it happens and don’t have a lot of great ways to fix it.
The central deafness happened when oxygen deprivation damages the auditory areas of the patients brain. He could not hear anything, could not understand speech, relied on writing and lipreading to communicate. Interestingly, he also had some noticeable trouble with his speech. He had what we call “deaf speech.” That is the particular type of articulation errors we see in patients who are deaf. Even though he was an adult when this happened. He also had a lot of memory problems. After several years of rehab and treatment he regained a fair amount of hearing ability.
Fibrodysplasia ossificans progressiva (FOP). A disease that calcifies soft tissue and turns it into bone. When I was a medical student our group’s cadaver had this disease. During dissections we sometimes would get poked by spiky pieces of bone in random areas of her body. Also had a spine that resembled a small turtle shell.
Geneticist here. I work in a pretty big hospital and we get hard to solve cases from all over the world. Some of the cases are so unique, there is literally no name yet the genetic disorder. So those would be the rarest. But for the sake of this thread, I will discuss something that is not the rarest, but is pretty rare, and one of the most interesting:
Prader Willi or Angelman Sydrome. -these are two extremely different disorders that are both caused by the same exact genetic mutation. The only difference is if the mutation occurred on the paternal chromosome or the maternal chromosome.
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