"Doctors of reddit, what is the rarest disease that you've encountered in your career?"
The responses ranged from genetic mutations, to mental disorders, to injury from an accident. Often, leaving doctors with more questions than answer. A few stories end in a miracle, and a few in tragedy.
Some of these tales are gruesome. So, readers beware.
Torso like a water balloon.
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
Dermatologist here. Some fun ones:
- Chromhidrosis, where sweat comes out in different colors. My patient's was blue.
- Argyria, a permanent discoloration from silver overdose.
- Aquagenic urticaria, an allergy to contact with water.
I had a patient who presented with purple/silver skin. He looked like a smurf and the silver surfer had a baby. However he was in the ER for abdominal pain and was highly offended when I asked him about his skin pigmentation. My first impression from across the room was that he was severely hypoxic and I was amazed he was walking and talking. He made comments that made it appear he was a huge conspiracy theorists so I was suspicious of colloidal silver toxicity. When I asked him about it he shouted angrily "I don't take silver supplements anymore!" After some prying, he said he took them to self treat for a prion disease which he self diagnosed from "the grape juice test" where you spit out grape juice into a Petri dish and "a fungus grows out of it". At this point I'm like yeah this patient is f*cking nuts. I'm pretty sure he listened to too much Alex Jones and as a result permanently died his skin blue, a condition called argyria
Ringing in the ear.
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.
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.
When mom had a stroke she became blind for a couple weeks. However while she was blind her severe deafness went away and she could hear me breathing on the other side of the room. When her vision improved she became deafer again. Her doctor was stumped.
Vanished without a trace.
Gorham's disease aka vanishing skull syndrome. A softball size area of my patient's skull disappeared and left behind a soft spot. she ended up with a plastic plate to protect her brain. Crazy disease.
10 year old boy "pregnant" with his twin.
Fetus-in-fetu. 10 year old boy "pregnant" with his parasitic twin (PT).
Case 10 y.o. boy came in with enlarging abdominal mass and intermittent generalized weakness. Imaging revealed a parasitic "fetus" which was also growing in size. History revealed mass noted 2 years ago which enlarged rapidly the last 3-4 months. Within days of admission, boy's organs begin to fail with no apparent reason. He was healthy and eating well when he was admitted. Family wanted surgical intervention to separate the parasitic twin against surgeons' advice. parasitic twin was basically starving/poisoning the boy to death. Surgeons opened the boy up and found that the boy and parasitic twin share a (stomach, liver, heart, blood vessels - mesodermal organs) basically too complex to operate. The boy passed away after.
This happened to a poor family in a underfunded government hospital in a corruption-infested country. The parasitic twin was donated to the hospital. It had teeth with hairy limbs with the longest curved baby nails. I can't describe it further. It is on display at the Surgeon's Hall.
Believed he was dead.
Walking corpse syndrome - cotard delusion. 17 years in mental health and I've seen it once. The belief that some or all of you is dead. The guy was so certain he was dead he believed he was a zombie.
Persistent genital arousal disorder.
Persistent genital arousal disorder. Having multiple orgasms a day, at any time, without any stimulation; becomes quite bothersome and uncomfortable, limits your daily activities and sleep is interrupted. Over time patients can become very hopeless. It is remarkable the dissonance between the name and the obvious joke, and the tremendous suffering these patients endure.
Two disorders, one genetic mutation.
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.
If it occurred on the maternal chromosome, you get Angelman Syndrome which typically results in the child being overly happy, laughing all the time with light eyes and hair color, but also severe intellectual and physical disabilities.
If the mutation occurred on the paternal chromosome you get Prader Willi Syndrome, which results in the child having excessive hunger and can literally eat him/herself to death, but with only mild cognitive disability. These kids may go a very long time not getting diagnosed and will become quite obese.
Skin over the eyes.
The rarest I've encountered is KID Syndrome (Keratitis Ichthyosis Deafness). A 5 year old, very sweet, blind girl who literally had rough, thick, opaque skin on the surface of her eyes.
The three words in the name define the 3 primary issues it causes. It causes keratitis which causes the blindness, it causes ichthyosis thus scaly skin, and lastly it causes deafness. The first two words are not adjectives that describe the blindness, it's simply three afflictions caused by a single root cause.
Some advice from an eye doctor
Eye doctor here:
Patient had bilateral acanthamoeba keratitis. Estimated that 0.0004% of contact lens wearers will be diagnosed with this condition in ONE EYE. My patient had it in both!
Acanthamoeba keratitis is a rare parasitic infection of your cornea.
My patient presented after coming back from vacation complaining of a little hazy vision and his eyes feeling a bit off. His cornea looked pristine but I did note a little ocular inflammation. Turns out he had an underlying autoimmune condition (ankylosing spondylitis) known to cause ocular inflammation (uveitis) and recently stopped taking his medication so I thought this was a slam dunk case. When he came back for his follow up, we realized this was not a slam dunk, and we sent him out to a corneal specialist ASAP and now he is back to 20/20 vision in each eye! His case ended up being caused by wearing his contact lenses while swimming in a lake!
Remember don't sleep, shower, or swim with your contact lenses on and make sure to visit your eye doctor for regular check ups :)
If you're feeling a little anxious after reading this list, remember these are all the rarest these doctors have ever seen.
But then again, it did happen to someone!
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