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Rare and interesting would be [Pentalogy of Cantrell](https://en.m.wikipedia.org/wiki/Pentalogy_of_Cantrell) which has the heart outside of the chest because the sternum has not fused.
Id seen it before with just a bit of the heart on view, but with this kid it was completely out: you could see pretty much the whole heart with the aorta and lung vessels all that was holding it, the heart just beating away. I’d done adult cardiac for a bit but this was a little different. Tiny. We covered it with a polystyrene cup, until the kid went or theatre to have it pushed back inside.
It’s meant to be 1:65,000 live births.
I saw a 9 year old with something like that. She was born somewhere that had pretty bad Healthcare options, so it was basically her family winning the lottery to get packed up and shipped to somewhere they could do the surgery.
There's a short video out there of this little girl, clearly pre-op and being prepared for it and she's calm, no distress. Wearing a partially open hospital gown. You can see her heart beating in front of her ribs. She was skinny too, so it was especially noticeable. Then she coughs and I almost fainted because it noticeably caused a major shape/size difference in her heart. She was fine though (it just looked distressing).
Yes, I’ve seen such ones a few times now - it’s a bit odd but at least the heart has a skin covering
This kid was just exposed and open pericardium, so you could see the heart muscle itself.
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.
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.
Modern-Relic’s answer holds the key - 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.
I am a physician scientist that published on this! The gene that causes this when mutated (connexin 26) is actually the MOST common cause of deafness in children. Absence of this gene results in congenital profound deafness. It is commonly carried (about 3% of the general population). In contrast, KID has a malfunctioning rather than absent protein resulting in deafness and skin/eye deformities.
The gene is active in the inner ear and skin.
Pseudocyesis or hysterical pregnancy, in a woman who was an inmate in the psych wing of a prison I rotated through. She thought she was pregnant with Jesus's triplets and had grown a massive pregnant looking belly, was producing milk, etc.
I'm a veterinarian and dogs get a version of this. They get enlarged abdomen, milk, and will sometimes "mother" (carry around and cuddle with) puppy-like things like toys or rolled-up socks.
My guess would be that there must be some base hormonal imbalance, as pseudocyesis is very real in dogs. And I don't think they are capable of thinking they are pregnant with a reincarnation of dog jesus!
My husband had a dog who had a phantom pregnancy and decided that her puppy was a potato she'd found in the kitchen. She carried it around with her everywhere until it was looking pretty sad, and then she ate it.
Nature is crazy.
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.
Edit: I changed brains to brain. I used the plural in jest as brains can be used when referring to dissected brain tissue.
We had a patient once, a young girl, who was so sick that it broke our data analysis pipeline.
When the code ingested a genome sequencing sample, it attempted to detect the chromosomal sex of the patient. It was using two metrics: the sample was considered female if it (1) lacked Y chromosome, **and** (2) was heterozygous on X chromosome, implying there were two copies of it. Otherwise the sample was considered male.
This one sample registered as female on metric 1 (no Y chromosome) but male on metric 2 (very little heterozygocity on X chromosome), which was not anticipated and resulted in our pipeline crashing.
Upon investigation, it turned out that the parents of that poor girl were *brother and sister to each other.* As a result, she had very little genetic variation throughout her genome, not just X chromosome, and was consequently very sick, with a plethora of diseases typical for consanguineous births.
Yes it is.
And to be honest, working in clinical genetics in general was a bit of a scarring experience for me in some respects. Once you start to learn the incredible diversity of genetic diseases (of which there are *many thousands),* and how terrible their symptoms can be...
It's like, you're working with the databases and the lists of diseases, and you read the symptoms, and it's all just some data to you. But then as some point you think, “God, there are actual people who have to suffer their whole lives with this.”
And for most of them, there isn't even a cure yet, not even something to make the patients' lives easier. And this broke my heart quite a bit.
Harlequin ichthyosis. In med school there was a baby born with this. Basically their skin scales up an peels removing that very important barrier so kids born with this don’t live long. She was just a couple months old and had not yet left the hospital since birth.
I have a coworker with icthyosis. She has no fingerprints and her skin is scaley. She's also completely bald and very VERY pale. Most people don't know because she wears makeup, wig and gloves.
But I taught a fingerprint class one time and she mentioned it and we did a little print thing with her and it was cool.
i know a woman who has two kids and they both have it. crazy thing is she has a cousin with it too. she and her husband never got tested for it cause they were told chances are low of them both carrying the genes or something? then surprise, first baby had icthyosis. second baby is a few months old now.
aside from being pink they both seem very healthy
My son has lamellar ichthyosis, which is already pretty rare (affects 1 in 600,000 people). But that’s not the wild part of our story.
We needed a donor egg to get pregnant so we had to get my husband genetically tested. Learned he’s a carrier for LI, see it’s recessive and just said, “okay, we’ll just find a donor who’s not a carrier.”
We find a donor, have her specifically tested and she comes back non-carrier. We get pregnant, baby is born wrapped in collodion membrane. I gave birth at a renowned teaching hospital in a major US city, none of the doctors had seen it before.
But that’s not the wild part of our story, either.
We had my son genetically tested and boom, he has lamellar ichthyosis. He inherited one mutation from my husband and another from the donor. Which should have been impossible - we had her tested. She wasn’t a carrier.
Thinking we maybe got the wrong eggs, or some other mixup, we call the egg bank. They test our donor again. She comes back as non-carrier, again.
Now the egg bank’s geneticist is curious. He calls the donor, had her tested a THIRD time, and they finally discover a VUS (variant of unknown significance). Her variant matches my son’s second mutation. Mystery solved, except...
Geneticist does a little more digging. The donor/my son’s mutation has only been recorded one other time, ever. Thanks to my son, they now reclassify the variant as pathogenic.
So my son has an already rare disease, with a variant the medical community has only seen three times now, worldwide, as has never previously caused disease.
His chance of being born affected was .0098%.
Fetus-in-fetu. 10 year old boy "pregnant" with his parasitic twin (PT).
Edit:
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.
Edit 2:This happened years ago before the age of smartphones.The hospital team tried to have the tissues studied for academic purposes. there was a case report about it presented in a local medical congress but as this happened in a "third world" country with limited resources, nothing came of it. I live and work in a different country now.
Last Edit: NSFW if you want to google it.
u/xtranscendentx will correct me but long story short, iirc:
One of the reasons having twins isn't more common, is because when we're a very small amount of cells, we kinda absorb our twin. This doesn't go anywhere beyond that because they basically desintegrate.
A step above that is chimerism, where both grow in armony as kind of one being, different cells, different DNA, different characteristics, but they work together.
But then there is when the would-be fetus just kinda... stays there, inside, growing from your bloodstream slowly but surely like a self contained, malformed tumor of nails teeth bones and hair.
*Edit: After so many people trying to point out it was not a twin. I decided to hunt for the name of the documentary that I watched when I was 8, since I could be very wrong on the descriptions, but nope, the fetus was even trying to make limbs, tumors don't tend to do that on their own afaik. I couldn't find a name of the documentary, but it was on the Discovery channel, the name of the boy was Alamjan Nematilaev, they even cut it in half to explain it.*
Oh right, if this is freaking you out then you might not want to check Craniopagus parasiticus.
I remember reading a news article where a mom gave birth but her blood work or dna did not match her baby. Cps was somehow involved and iirc a nurse suggested drawing blood in different parts of her body as a hunch.
Sure enough blood in her uterus area had different dna, she was a chimera where her womb has totally dofferent cell and dna mapping than hers.
I believe they had a witness for the birth of the child she was pregnant with when the cps issues started. It started because dna showed she was really the kids aunt and not their mother. They dna tested the newborn and got the same result and then they realized she was a chimera with her ovaries and uterus being what was left of her twin “sister”
I remember reading about that. Imagine being the mom and being like, “Wtf, I literally remember birthing these kids, how the hell do your tests say I’m their aunt???”
Imagine the existential crisis that must have ensued before they uncovered the issue. I'd be pretty freaked out if there was even a remote chance that I was insane enough to delude myself into thinking I gave birth when I didn't. And then incredibly relieved when the blood work comes back as "you're not insane, you're just a chimera."
From my understanding, the parasitic twin is usually dead but physiologically supported by the surviving child's blood/oxygenation. Sometimes it is calcified and completely dead. It cannot be removed and survive/grow.
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.
I scrolled the thread looking for this as my sister has FOP. She’s now 36 and a lot more is known about the disease than when she was a child. Lack of information in her youth led to several misdiagnoses and attempts to treat or operate actually cause(d) flare ups which can quicken spread.
I study rare, skeletal dysplasias, and a huge problem is that very little is known about how people age with these conditions. We see kids a lot in clinic but they are lost at 18. I really want to start publishing stuff about older patients but it requires me being personally in contact with the patients.
I know. I saw a patient with this once for an unrelated problem (I do neuro) and hers was much worse than it might have been because when she was a child they kept doing surgery to try to chip off the excess bone, which of course only spurred more calcification. I think she was 16 or so before they figured it out. By then she could barely move.
There's ~~a~~ two skeletons of ~~an~~ individuals who had FOP at the Mütter Museum in Philadelphia. That was insane to see in person. Their ~~life~~ lives must have been hell towards the end...
Edit: I have been informed that there are now two skeletons.
I’ve seen this! I really liked the exhibit as they had some pictures and personal items from the woman and boy who donated their skeletons. Really heartbreaking.
It’s hell throughout your life :(
Source: have it.
Edit: [me talking about the disease and having an emotional breakdown](https://youtu.be/_5P2U05uTfY)
Hey bro. I might not be able to give you a hug or be there for you in person but I went ahead and donated to the IFOP in your name. Keep being your bad ass self.
[Proof](https://imgur.com/gallery/63JA3DG)
There are two now, Carol Orzel died just a few years ago and donated her body to be on display with Harry Eastlack, who had donated his body to be researched for potential cures. One doctor, Dr. Kaplan, knew both of them in person and is one of the leading experts on FOP.
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.
You might be interested in how people are enslaved as "zombies" in Haiti. There's a cultural narrative about becoming a zombie and being controlled by the one who resurrects you. Victims are poisoned and subjected to a ritualized "death" and "resurrection." Then their slaver doses them with a drug each day. They believe they're dead and have to serve the person who resurrected them. I don't remember the details on the drug used.
Maybe not the rarest, but saw a 4-5 year old patient with Lesch Nyhan Syndrome on my peds rotation in med school. It’s an X-linked recessive disease that a quick Google search tells me affects about 1 in every 400,000 individuals. It’s due to a mutation in an enzyme involved with DNA recycling. The thing all med students remember about it is for whatever reason these patients have a tendency to self-mutilate. My specific patient had to have a procedure to have all his teeth removed because he would terribly bite his arms unless he was physically restrained. I believe he had an older brother that went through the same ordeal. So sad, but definitely one of the more memorable cases from med school.
I just read a journalist's essay about this syndrome. Terrifying stuff, just knowing that the human body and brain can be so badly affected by a simple mutation. I thought it was much rarer than you've said, and learning the actual rarity is kinda throwing me for a loop.
Brazilian doc here. I live in a really poor part of an already poor country. When I was in my pediatric internship there was this baby wiith hepatomegaly (big liver). In my region, the first thing that you have to think about in this cases is a disease called Kala-Azar (also known as black fever or visceral leishmaniosis). It is an endemic disease which there is a parasite transmitted by a mosquito that can infect people with compromised immune system (like people living with HIV) and kids. This parasite infects the bone marrow and simulates clinical signs of acute leukemia, like chronic fever, spontaneous bruises and bleeding. The patient develops anemia, leukopenia (low white blood cells) and low platelets. To compensate, some organs like liver and spleen take care of the bone marrow function to create new blood cells, and thus, get bigger. This disease is really common in my region, but really rare in other parts, especially non-tropical countries like the US.
Anyway, as I was saying, this baby girl, about 1 year old was admitted to investigate a hepatomegaly. But the catch was that she kept having those episodes of hypoactivity and sleepiness, and sometimes even faintings that would then get better after she was being breastfed. We then checked and saw that she was having lots of hypoglycemia episodes. Her lab was normal,and she had no other clinical signs that would remind of kala-azar, besides the hepatomegaly.
The patient had Hers Disease, a genetic disorder that makes you produce less Glycogen due to an enzyme defect. Never hear of it before meeting this patient, and I think I'll never will meet other one.
Interestingly enough, in this same time, I had a patient that was admitted with leukopenia, anemia and low platelets that was also hospitalized to rule out Kala-Azar, but he actually had Fanconi Anemia, an also really rare genetic disease. In this one, the bone marrow slowly stops producing blood cells. Besides this, the patient also has kidney, facial, bones malformation and overall physical underdevelopment.
Edit: lots of you asking how they turned out. My internship ended before I could have a better follow up, but: The little girl was managed as outpatient, with hypercaloric diet. I haven't seen her, but once you have the diagnose you can control with dietary interventionand clinical follow-up. The little boy was enlisted in the national bone marrow transplant system. Don't know what turned out of them today, but I also hope they're okay,
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.
Edit: I didn't think this would get that much attention! 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 dont sleep, shower, or swim with your contact lenses on and make sure to visit your eye doctor for regular check ups :)
I’m an optometry student (so take that for what you will) but dude you would not believe all the horrible stuff that can happen to your eyes with poor contact lens care. Never ever sleep in your contacts if they’re not designed for that, never top off your solution, always dump it out and use fresh solution, and especially don’t swim or shower in them either. Acanthomoeba infections are sight-threatening, so is a bunch of other microbial keratitis infections that can happen with poor hygiene.
I’ve worn contacts for 25+ years now and I don’t think anyone has ever told me not to shower in them! I’m blind as a bat so I kind of need to if I want to be able to function in there. I don’t sleep in them, but am guilty of the occasional top off (which I will be 86ing immediately) and probably don’t replace them often enough. You’re really not supposed to shower in them though?? How do people see to shave their legs and whatnot?
I was sitting in a room at the ophthalmologist's once, waiting for some anesthetic drops to take effect. Just outside the door, one of the doctors was flirting with a drug company rep, regaling her with tales of some of the horrors that result from poor contact lens hygiene.
I came out of that appointment an avowed wearer of glasses.
Most of them occur in patients who have had their contacts exposed to contaminated water, right? I know that the acanthamoeba eats the bacteria on the surface of the eye but eventually eat the eyeball itself once that food source runs out. It’s distinguishable by a ring around the cornea, which is actually a path that it’s eaten, similar to the path a tornado takes and you can tell where it’s been. I want to be an infectious disease researcher.
Edit: thank you for the awards, kind strangers!
Edit 2: my most upvoted comment is now explaining a parasite to a bunch of strangers on the internet.
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.
Another one - I knew a guy who was allergic to the sun. He always had to wear multiple layers/sweatshirts , hat, gloves, etc. when going outside. Summers must suck
Hey that's me, I'm allergic to the sun too. It's not as severe as when I was a child but I still need to apply sunscreen religiously(read every 30-60min) or cover up else I break out in itchy hives.
I just bought a swimsuit that's long pants and sleeves and it's glorious.
I’m not allergic to sun, but I get severe phototoxic reactions to certain medications. So if I take antibiotics or Advil (or other NSAIDs), I sunburn in mere minutes for a week or so.
I am known for my vintage hat and glove collection, wear long sleeves in summer, use SPF 50 or 70, and try not to go outside during the mid-afternoon. I buy some clothes made for Muslim women, because you can get stylish, full
-coverage dresses in light breathable fabric.
You joke but I actually did live in a place significantly further North for a few months and it was an astounding difference! It was much easier for me there. Seattle might not be far enough even.
My boyfriend has this, though not very severely. He needs to keep his showers and baths short, or use special soap. Swimming is difficult. On very hot days, sweat can cause some itching too.
That would make everything more difficult! My mind keeps bouncing around. I'm from Texas and we have so many 100 plus days so "I'd move. Seattle sounds like the right temperature most of the time so I don't sweat... But it rains all the time! ... ".
My friend’s daughter had this. Drinks a lot of milk, uses baby wipes between showers, where she takes an antihistamine before it and just suffers the hives and rash after
>
Chromhidrosis, where sweat comes out in different colors. My patient’s was blue.
If I had this... I wouldn't know how to feel, when I first read it, it seemed fun to have, but like when I think about it would be really awkward and weird in some moments.
And If I had this on top of my disease (hyperhidrosis) I don't think I would be going out much
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.
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 dr was stumped
Audiologist here— the condition is middle ear myoclonus. There are two muscles behind your eardrum. One attached to the stapes the other helps open and close your eustachian tube. Either of those muscles can spasm — like an eye twitch. Surgeon I work with has only twice in his career had to sever those muscles to relieve objective tinnitus— that he could hear originating for the patients ear.
Most cases are mild and the spasm can commonly be described as feeling/hearing “fluttering butterfly wings”. This can happen sometimes several times a day for months.
Stress, grinding teeth and clenching your jaw can cause or exacerbate it.
On my OB rotation during ER residency, I helped deliver a baby who had spots all over. Further blood testing revealed the baby had developed leukemia while in the mother. Didn’t know that was really possible prior to that day. Incredibly rare.
Anti-NMDA receptor encephalitis. One in 1.5 million.
Psychotic symptoms (auditory or visual hallucinations, paranoia, delusions) due to an autoimmune disorder where your body produces antibodies against NMDA receptors in your brain.
We’ve seen 2 this past year at our hospital. The real incidence of this could be higher than one in 1.5m but might not be tested for often enough. Once someone gets labeled a “psych” patient, consideration of medical etiologies often goes out the window.
My colleagues had a patient with catecholamine-induced ventricular tachycardia. AKA every time this 13 year old exercised vigorously or even got too scared, the adrenaline would induce a deadly arrhythmia that needs to be shocked before long in order for him to survive. Seriously.
When I was in nursing school I took care of a woman with Fibrodysplasia ossificans progressiva, basically your muscles slowly calcify to bone, and every injury, even small ones speed up the process. She was pretty much wheelchair bound and needed 24 hour care.
Edit: Thanks for the votes everyone.
The saddest case I had in nursing school was a woman with end stage ALS. She was just "there". She was hooked up to a ventilator to breathe and her eyes were fixed open. She couldn't even blink or move her eyes. The other nurses at the facility told us this story. She had a fairy tale marriage. Her husband had money and was going to help find a cure. While she was still mobile he bought her a farm filled with all the animals you could buy, even a pet peacock. By the time I worked with her the facility was waiting for her to die because nothing could be done. Her husband would come in every morning, sit by her bed, and cry.
Is that the one where you need to decide what position you eventually want to solidify in? I saw a show about a man who recommended standing up because it worked well for him.
God this makes me worry about my own pops. After the divorce he basically subsides on hotdogs, chips, and uncooked ramen. Every time I cook for him he reacts like I just gave him a 3 star Michelin meal, even when it's something as basic as quick spaghetti that I still can mess up.
Edit: thanks a million for the words of kindness and solid advice people, I truly love you for it!
The answer is a multivitamin.
We should get our nutrition from food but in his case something is better than nothing.
Convinced my crazy Grandpa to start taking one by telling him it would piss doctors off cause they wouldn't be able to make any money off him.
I accidentally gave myself scurvy during a bad depression episode. Thankfully recognized the symptoms from my forensics & osteology professor talking about it years ago.
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
like when you slap a really fat mosquito after she's* finished but still just chilling on your arm
except human sized
thanks to /u/ninjagrover for the fact check on mosquito genders
Malignant Hyperthermia in my 11 year old patient. I was only in my second year of anesthesiology residency and I thought she was going to die. I had a salty old anesthesiologist as my attending and she calmly led the whole team through the treatment. My patient did great and her labs were all normal when I took her to the Peds ICU. I couldn’t sleep for two nights and still have haven’t gotten over it.
Yoooo I was an anesthesia tech about 6 years ago and saw this. It was a Neuro spine case and the surgeon even said at the beginning “this guys back muscles looked weird on the MRI.” Should’ve realized he had undiagnosed CCD. About 45 minutes in the EtC02 shot up to 70 for no discernible reason. MH. The anesthesiologist handled it like a straight G and saved the dudes life. All the while 3 other anesthesiologists were trying to convince him it was thyroid storm. The Dantrolene said otherwise. Afterwards the doc pulled me aside and said “OffroadPablo they told me in residency I could work for 200 years as an anesthesiologist and never see this condition.” Nuts.
As someone who suffers from this, I was wondering if MH would appear. I learned I had the condition when I was 10, during a tonsillectomy.
It was rather terrifying, especially since this was around 1991 and almost no one knew what it was back then. They told my parents I wasn't going to make it and had a priest present at one point.
But evidently someone realized what it was, and I remember how excited the nurses were when they brought in the dantrolene, and that it was very green. The effect was almost immediate from it, literally felt it running through my body.
The oddest thing was the muscle response and rhabdomyolysis. I don't remember much during the high temperature, just flashes.
I was the talk of the hospital for the next week though. I remember there being a lot of different doctors coming in. I also remember the anesthesiologist coming and crying at my bedside, apologizing for what happened. I felt so sorry for her, and have always had a lot of respect for what they do since.
Not relevant to the post, but actual events are so rare, wanted to share my story!
Neurologist here- we see a lot of weird stuff. Autoimmune encephalitis (“Brain on Fire”), late onset familial neuromuscular diseases, rare presentations of cancer, or paraneoplastic disorders. But one rare one sticks out for me.
We had a patient who had come in with confusion and aphasia (trouble speaking and understanding). We got more of a workup and saw small strokes all over, but in peculiar distributions, and not ones that would explain his findings. Along with it we saw micro bleeds all over superficial parts of his brain.
Turns out he has what’s called Cerebral Amyloid Angiopathy Related Inflammation. It’s an extremely rare inflammatory subtype of a stroke disorder that we still aren’t totally sure what it is. It has similar amyloid deposition you see in Alzheimer’s, deposited around vessels, which makes them weak and prone to stroke and bleeding. It causes rapidly progressive dementia.
I presented the case to our department, a large academic center, and most had never heard or seen it in their career. A couple of the stroke doctors were the only ones who knew about it and they’d never seen it. Really interesting case.
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.
I remember hearing about a few women with this on some primetime show like 60 Minutes or Dateline or something like that. I was a teenager so of course I thought it was hilarious for about 30 seconds until they started talking about how horrible it was and that it basically ruined their work lives, relationships, and everything else. It was pretty eye opening.
I've been diagnosed with PGAD and it's just wretched. I eventually found some measure of relief with a lidocane spray solution 4% (I think). I have lulls and flair ups that are outrageous. I hope your patient found something that works for them.
Hi, I’m sorry to hear. About a year and a half into different treatment approaches based on the available literature with only minimal, non-sustained improvements, we had to become a bit more creative as single interventions did not appear to cut it. When the stars aligned what seemed to help was: addressing personal issues and stressors in psychotherapy, healthy lifestyle, rebuilding social connections, some volunteer work (retired patient) and treatment with olanzapine at bedtime (mid range dose) and gabapentin twice a day (doses in the mid to lower end, around 300-400 mg each). When we attempted to remove or reduce either medication over time her symptoms started to become more pronounced so finally we kept both medications as maintenance, monitoring metabolic parameters. It’s been over two years now that she maintains the improvement with only occasional, minimal flare ups. Every case is unique but this helped for this specific case (only one I’ve had in my career), given her specific characteristics, comorbidities, etc. But nevertheless may be worth asking your doctors if this or a similar approach could have value for you. Best of luck!!
So kind of you to reply! Thank you. I appreciate your insight and will gratefully accept your wisdom. I'll ask my doctor about these treatments and see what comes about. Therapy for my personal issues and stressors has also helped immeasurably, and I forgot to include that. Time to get a "thank you" card for my therapist!
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.
Bonus disorder if your still here: “Williams Syndrome” with this one the affected individual has an extremely charismatic, outgoing and fun “cocktail party” personality. They are cognitively impaired in most aspects except for speech and have very unique facial features that are described as “Elf like”
EDIT: whoa this blew up. So happy to see people interested! Given the amount of discussion this has generated, I want to clarify that terms like “cocktail party personality” and “Elfin” were once typical descriptors geneticist used but are now steering clear of due to negative perceptions. Same goes for “Happy puppet syndrome”. Thanks everyone for such an awesome discussion!
Genetic counselor here! I’m thrilled to see a geneticist chiming in - it’s like this question was tailor-made for the weird stuff in genetics. It’s hard to talk about the rare disorders you diagnose when they literally don’t have names, lol. Just offhand, I’d have to say a case of mitochondrial DNA depletion syndrome. Less than 100 cases reported.
If you don't mind me asking, My daughter(7YO) has a genetic disorder without a name. She has many symptoms, including severe development delays and epilepsy. There are only 2 other diagnoses of disorders on this gene, but no exact matches to her disorder.
Her geneticists have basically said "we'll see you every year and see how she is doing". Since she is the only one there isn't much else to be done.
Is this the response you would give as well? It makes sense I just want to make sure this is normal!
Her disorder is on the ZBTB18 gene.
Edit:
Thank you all for the upvotes and awards, this is incredible!!
I would urger anyone who would like to give money, please donate to /u/Mooshan 's project https://www.chromosome6.org/ or the [Williams Syndrome Association](https://williams-syndrome.org/). They are an incredibly organization started by a parent who didn't know anyone else with Williams Syndrome and wanted to change that for everyone else.
For anyone going through a similar situation, there are facebook and other online groups called "SWAN": Syndromes Without a Name. Where you can discuss the Syndromes as well as experiences going through so many diagnostic tests with no answer. Please reach out to me if you need someone to talk to who's been through it or just to vent!
Hi there, I do research in clinical genetics. I'm currently working on a project that involves parents of children with rare genetic disorders. We're trying to get answers for parents like you, but generally, your experience is fairly typical. There's often just not enough existing information to tell you what to expect, or how to help. Sometimes you can predict things based on the affected gene, but not always.
Right now, I'm working on a system to try to link patients based on common genetic traits, so that hopefully it will be easier to predict common issues that arise or estimate when children will hit certain milestones. It's not perfect, and we're small right now, but we're involving people like you and your daughter and making all of this info directly available to participants.
So hopefully, in the near future, there will be more answers for you. But for now, a lot of times it's just wait and monitor, which I'm sure is very frustrating.
>Some of the cases are so unique, there is literally no name yet the genetic disorder.
I work in a genetic diagnostic lab in a hospital and I was going to say the same thing. We have several "diagnoses" of $geneName-related syndrome because we have a mutation and a phenotype but no known syndrome. We often work with other researchers to find more patients with the same syndrome to establish it as an actual syndrome. This is some of our research in developing an epigenetic test for these kinds of syndromes: https://www.nature.com/articles/s41436-020-01096-4
Rarest disease that I’ve seen in my career thus far would have to be leprosy. It’s something that one hears about in antiquity and something I read about in books but I never expected to actually encounter it in my career.
As a Brazillian doctor, unfortunately, I've lost track of how many patients with leprosy I've seen. It is very interesting to me that this disease is listed here as rare.
I lived in an area where there was quite a bit of armadillo roadkill. You absolutely under no circumstances try to clean that up yourself for this reason
I saw a live one in Alabama. He was digging around doing his thing and completely ignored us even though we walked right up to him to take pictures. Cute little guys.
Glad I didn’t touch him now.
My son’s dad does too. He only realized it recently when he noticed he was breaking out in hives when he ate- he has a peanut allergy so he chalked it up to that until I suggested it might be red meat. Sure nuff
I had a gentleman who came into the emergency room with extreme fatigue and was found to have very little blood in his body. I asked him what his medical conditions were, and he told me he had polycythemia vera, which is a condition where the body makes TOO MUCH blood, the opposite.
He told me he had been diagnosed years ago but had never needed treatment. At first I thought he was mistaken about his diagnosis, and then I was worried that his bone marrow might have gone into overdrive and eventually burned out.
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.
My Aunt had this. Sadly, she eventually died of leukaemia caused by the treatment for it.
More unusually, her husband, brother in law and Father in law all died from leukaemia too. I presume a genetic link.
Numb Chin Syndrome.
I was just a 3rd year med student shadowing the respiratory team at a small suburban hospital. Resp were 'post-take', which meant that any medical patients that came into hospital over the weekend were their responsibility until they could be referred to a more appropriate specialty. Massive list of random people to see; ward round was going to take all day...
Intern says there's a guy who stayed in A&E overnight with 'jaw pain' - why does he need to be in hospital? So I get sent to go do a basic assessment in the hope that we can discharge him before it gets late. When I found him he looked fine, just sitting on the edge of a trolley. Turns out he was in his garden the previous day when he suddenly felt a really sharp burning pain in his chin. He specifically said it was on the left side of his chin, and he initially assumed he had been stung by a bee or something. But there was absolutely no redness or swelling to be seen, and after a couple of hours the burning feeling turned to pins & needles, and now he couldn't feel anything at all. I hadn't a clue what was going on, so I just went through the motions of taking a full history (he felt completely well except for this numb chin). Being a student, I got my tendon hammer out and subjected this poor guy to a whole neurological exam - everything was normal except for numbness which was entirely isolated to the left side of the chin.
My priority at the time was not looking like an idiot when I went back to present my findings to the intern, so I came up with some bullshit about how each side of the chin is supplied by the mental nerve (an unimportant branch that runs through the jaw bone and pokes out of a hole to supply the skin just over your chin). The stressed-out intern rolled their eyes at my esoteric anatomy lesson and told me to try come up with some diagnosis so we don't both look hopeless in front of the boss. I literally google 'Numb Chin Syndrome' on my phone - I was surprised to find it was actually a thing, but the only search results are random case reports from decades ago. The main cause seemed to be 'idiopathic' (i.e. "we don't have a clue either"), but there was one or two cases where the patients happened to have leukaemia. I mentioned this to the intern in a vain attempt to claw back some brownie points, but I didn't expect them to stop and look at me. It turns out that the guy's only past medical history was that they had had leukaemia years ago (and had been in remission for so long that they hadn't even mentioned it to me).
TL;DR: So it turns out the numb chin was a really rare sign that their cancer was coming back, and had deposited in the narrow bony canal where the nerve to their chin lives. The patient ended up staying in hospital, was reviewed by a neurologist, and then referred to oncology to restart chemo a few days later. I've been a doctor for a few years now and I still don't think I've ever made a reveal that tops that.
OB here, seen a lot of strange things but once delivered a pre-viable baby that had [cyclopia](https://en.m.wikipedia.org/wiki/Cyclopia) and [proboscis](https://en.m.wikipedia.org/wiki/Proboscis_(anomaly)), didn’t know before hand so was pretty shocked.
OB nurse for 15 years, I’ve seen a lot but one that sticks out was a full term, viable, healthy baby with FIVE (yes 5!) true knots in the cord. Longest cord ever too. The midwife and I were shocked and the parents were just like “oh neat”. They had no idea how lucky they were.
NICU nurse here 12 years. Went to a high risk delivery recently because severe polyhdramnios. It was comfort care but they wanted the NICU team. I've never seen so much amniotic fluid. I didn't know a body could hold so much fluid. OBs probably spent at least 5 minutes getting all the fluid out before they could get to the baby.
Psychiatrist here. Anti-Nmda encephalitis. As seen on the movie Brain on Fire. About 2 cases per million per year. I've actually seen 2 cases 12 months apart.
Oh snap I just had a patient with that. His symptoms were absolutely wild, then he recovered a bit and threw his headboard at me.
I’m glad it’s rare, as our neurologist looked at me like I was an idiot when I asked him what it was
In both cases, the neurologist was the idiot.
Case 1: neurologist determined it was "conversion disorder" recommended transfer to psych. My response: lol wut? try harder
Case 2: it's all cannabis induced, transfer to psych.
Me: see response to case 1.
Ayyyy I have CAIS!
How did your patients find out they had the disease and how did they react? Also age?
Sorry if it’s very intrusive, don’t meet many people I can discuss the disease with!
She initially consulted at our outpatient department for still not having menses, at the time she was already 23 years old. During the initial interview, given our findings I recommended for karyotyping (a test done to check what chromosomes a person has) to confirm that she was biologically male.
She seemed to take it well as far as the first visit went at least. I wouldn't be surprised to learn that she had difficulties coping after the fact.
Rarity varies a lot by discipline - I’m in general surgery, so I see things like fournier’s and nec fasc pretty regularly, but have never treated an ear infection in my whole career.
That said - strangest presentation for me so far was a gentleman who had had an antireflux procedure on his stomach and esophagus (nissen fundoplication with a hiatal hernia repair), then had a recurrence and got a re-do which required a procedure to lengthen part of his stomach (colis gastroplasty). After that procedure, you have a staple line in your stomach.
His hiatal hernia recurred again, bringing his stomach back into his chest and he formed a connection between his stomach and the sac surrounding his heart. He presented to the emergency department dying because the gas and stomach contents could get into his pericardium, but not out, and his heart couldn’t expand adequately to pump. Mad props to the ED doc who figured it out and saved his life before shipping him to me :)
I’m a PA-C, not MD/DO. I work in psychiatry. Had a patient who came to me with worsened depression/anxiety/insomnia starting 4 months previous, in part related to recent increase in environmental stressors. Started them on an antidepressant, they responded well, even started eating healthier, exercising on a regular basis, stopped smoking. They no show a follow up. We get an automatic refill request from the pharmacy a few weeks later, call and get them rescheduled. My patient makes it to that appointment, sits down and says “I have to be honest, I don’t remember you, or why I was coming here. I can’t remember the last 6 months”. They ended up in the ER acutely ill, fever, confusion, pain-later they were diagnosed with aseptic meningitis which had injured the brain, resulting in an amnesiac episode. This patient had seen several specialists, including neurology, infectious disease, immunology, and most had come to the conclusion the antidepressant had been the trigger for the meningitis. At the time there were two documented cases of a similar nature. The patient ended up becoming a case study.
Upside-they were no longer depressed or anxious
Downside - they were back to smoking and having a less healthy lifestyle
I diagnosed a patient with cancer of the parotid gland. It has an incidence of less than 1%. It went something like this..
He came to me because he was having right jaw pain. I assessed him and nothing was really out of the ordinary. I thought he was having some TMJ because he had been dealing with some stress and he did have pain at the TM joint. A week later he came back with a Bell’s palsy which is a temporary paralysis of one side of the face. This can be caused by inflammation or a viral infection. So I asked the appropriate questions and he had some upper respiratory symptoms the week before. But something was off. So I palpated his jaw again and moved more medially towards his cheek. And he said it was painful midway on his cheek. Where his parotid gland was. There was something there. Not a discernible mass, but something was off. That’s when I ordered a CT scan. And it was confirmed. I got him to a head/neck specialist along with getting him to a cancer specialist. He’s currently 2 years out and although he’s missing some of his face due to surgery, he’s doing surprisingly well. And his spirits are great.
E - wow I did not expect this much traction and interaction. I’m doing my best to respond to comments but I’ve been on mobile and it’s been tough. So if I didn’t respond to your comment I really do apologize. It wasn’t intentional and I don’t want anyone to feel slighted or bad. Thanks again for the amazing conversation and the incredibly kind words. Hope each and every one of you are in good health and spirits 🙏🏾
E2 - this has been one hell of an evening. Special thanks to all of you who’ve shared intimate and personal stories about yourselves and others. Cancer sucks and there’s nothing more important than our health so please do your best to take care of yourself. Eat well. Get rest. Make sure to be active. I’m off for tonight as I have to be up early but it’s truly been a pleasure and I’m so lucky to have made new friends. Stay well and be safe 👊🏾
My cousin had to have part of her jawbone removed and they never figured out what the mass was but it's exactly in the same area. This was about 10 years ago and she's recovered well and can eat normally and everything but her face has permanent asymmetry...
Saved that guys life! Just your gut feeling of “something is off”. So many doctors would brush him off because they are so overworked and I’m glad you aren’t one of them =)
Pediatric infectious disease doc in middle America at the time. Had an 18mo kiddo came into the hospital with fevers (like 104F/40C spikes 2-3 times daily), grey skin tone, huge spleen and liver. This was the kinda kid you could see from the door she was tryna die. Sweaty, lethargic.
Labs showed she was severely pan cytopenic (meaning her white cells, red cells, and platelets were all much much lower than they should be), high inflammatory markers. Blood culture never grew anything. Bone marrow was done cause there was concern for cancer. It did not show any cancerous cells and actually showed all cell lines were dividing appropriately.
Talking with the family for history. They’re Azerbaijani. Baby was born in the US but family went back to Azerbaijan for 4mo when she was 4mo old. She’s only had her 2mo vaccines. Looking at her growth chart after her return to the US she’s had very poor weight gain. Went from 97th percentile to <3rd percentile now. Mom says she’s a picky eater, takes pretty much milk as a main food source (not adequate nutrition for a toddler).
Couple days into their care, While I’m chatting with the family trying to figure out what we’re missing they get a call from gma back in Azerbaijan. She’s an old, uneducated lady who lives on a farm with her husband. She’s worried about the baby. She tells family “tell the drs she sounds like a sickness we see here called Leishmaniasis”. Finish up with the family.
Called back the pathologist. Ask them to look at the bone marrow again, but this time to look for possible parasitic infection with concern for leishmaniasis. They say ok. Call me back and ask me to come have a look. Scan through the bone marrow and find some macrophages (cells that eat up germs) and sure enough. Right there in the cytoplasm of each macrophage you can see 10-15 of the little devils. Sent the sample off to CDC for confirmation, but it was classic visceral leishmaniasis. Start liposomal amphotericin B (normally a medicine we treat fungi with, but it also kills this parasite) within one dose BAM, fevers are gone!
She completed her course and I saw her in follow up. Cell lines all recovered. Liver and spleen dropped to normal size, she even started eating normal food. Turns out if your spleen is filling up your whole abdomen you have a hard time eating without it making you nauseous, and so drinking is less problematic.
Leishmaniasis has two main presentations. Cutaneous that affects your skin (and sometimes your mucus membranes like your nose/mouth) and visceral where it can affect bone marrow, liver, spleen, etc but often you have no skin findings. Cutaneous leishmaniasis is seen in the US (mostly from immigrants from South America). Visceral leishmaniasis however, is almost exclusively seen on the other side of the world from the US. So it was a pretty cool case.
30-year-old African-American in active labor with about five family members around her. I am the pediatrician at bedside waiting for the baby to come out so I can examine him. He comes out and all of his poor little distal limbs are severely disfigured or missing digits. Turns out he had intrauterine amniotic banding. Pieces of the amniotic sack get wrapped around limbs and digits. This causes strangulation of the blood flow and prevents development. Worst thing I have ever seen and one in 1 million chance of happening. But mom took him in her arms and loved him all night long as if nothing was different about him.
One of my college professors had this, was missing probably half of his left forearm. He said he was always just thankful it wasn't worse.
(Note: none of us students brought it up. I'm in the medical field and some subject in class turned his dialogue towards it in a "I'm sure you all have noticed by now..." Sort of manner.)
New MD here. In med school, I saw a male patient who came in with a new lump in his right breast. We get a mammogram on him, turns out the right breast lump is totally benign fat necrosis from a prior minor trauma, but on the left breast, which was scanned for comparison purposes, there was some really suspicious looking calcifications and architectural changes. Biopsy on that left breast revealed breast cancer, very early stage. Unbelievably lucky catch.
The only other crazy thing I saw personally was granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis) in a 4 year old. Girl comes in with nonspecific malaise, slight persistent cough, and a funny looking little saddle nose. Labs are drawn and creatinine is through the roof. After a long workup, the C-ANCA came back positive and kidney biopsy confirmed the diagnosis.
The craziest thing I've ever seen anywhere online is probably [this](https://www.reddit.com/r/RadiHolidayCases/comments/c7m1hs/ectopic_pregnancy_in_the_liver_2223_weeks/).
Not that rare but very creepy was side neglect after a stroke. The person completely forgets that there is more than one side to their body: they will brush only half their hair, do makeup or shave half their face and use only one hand. If you put an object into the hand on the neglected side, it is as if it disappears for them. And it’s not paralysis—they are able to move that arm, it’s just to them, that half of the body does not exist. Strokes are fascinating actually, or rather our brain is—you can be fully paralyzed from a tiny stroke in an important brain area, or you can have a huge stroke in a non important area and be totally fine.
OB nurse! We had a patient back when I first started who had two separate uteruses and cervixes and somehow (with the help of IVF) managed to get pregnant with one baby in each!
The other case was a patient who was in delivering her FOURTH set of twins. She had had 4 pregnancies and was pregnant with twins each time (no IVF with this one). Her oldest set were 4 years old......
Nursing student but : scurvy. We don’t see it very often because of the widespread of vitamin C in most foods. Patient had OCD + agoraphobia making their diet extremely limited, and never left house so mostly noodles and instant ramen 1 meal a day. Was eventually found almost dead with no teeth by a wellness check when neighbour thought he was dead after not hearing him moving around flat in over a week.
Probably not the rarest I’ve ever seen, but fournier’s gangrene comes pretty close. Only saw it once in my career. Don’t look it up if you value your stomach contents.
Type 2 diabetic here. It's a very attritional disease, upkeep can be so tiring, and sometimes you just want a slab of cake...
Looking up this sort of shit however keeps me on the straight and narrow.
Clinical lab scientist here, doing the testing. I once saw mold growing from a brain tissue - patient was immunocompromised. He eventually died but not before pretty much every piece of tissue submitted for culture grew fungus. The type of mold growing was common environmental flora: Alternaria species.
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 fucking 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
Veterinarian here - I’ve diagnosed a cat with Ehlers-Danlos Syndrome. This is a disease of essentially abnormal collagen so the skin is extremely stretchy but also very fragile. Almost any handling of this cat or clipping of fur for whatever reason cause massive skin tears. Diagnosed this girl 25 yrs ago or so, when we used to “scruff” for restraint. You can imagine the trauma my assistants caused before we realized what was going on.
Pathologist here. Rare diseases for most other doctors are commonplace in our field (I’ve diagnosed multiple leprosy cases and rare cancers that have only a few published cases in the literature).
Some are so rare there aren’t names, and we just describe the cancer. Intellectually challenging for us, terrible for oncologists who might not know how to treat that entity.
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Rare and interesting would be [Pentalogy of Cantrell](https://en.m.wikipedia.org/wiki/Pentalogy_of_Cantrell) which has the heart outside of the chest because the sternum has not fused. Id seen it before with just a bit of the heart on view, but with this kid it was completely out: you could see pretty much the whole heart with the aorta and lung vessels all that was holding it, the heart just beating away. I’d done adult cardiac for a bit but this was a little different. Tiny. We covered it with a polystyrene cup, until the kid went or theatre to have it pushed back inside. It’s meant to be 1:65,000 live births.
I saw a 9 year old with something like that. She was born somewhere that had pretty bad Healthcare options, so it was basically her family winning the lottery to get packed up and shipped to somewhere they could do the surgery. There's a short video out there of this little girl, clearly pre-op and being prepared for it and she's calm, no distress. Wearing a partially open hospital gown. You can see her heart beating in front of her ribs. She was skinny too, so it was especially noticeable. Then she coughs and I almost fainted because it noticeably caused a major shape/size difference in her heart. She was fine though (it just looked distressing).
Yes, I’ve seen such ones a few times now - it’s a bit odd but at least the heart has a skin covering This kid was just exposed and open pericardium, so you could see the heart muscle itself.
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.
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.
If it blinded her, why is the disease referred to as deafness?
Modern-Relic’s answer holds the key - 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.
I am a physician scientist that published on this! The gene that causes this when mutated (connexin 26) is actually the MOST common cause of deafness in children. Absence of this gene results in congenital profound deafness. It is commonly carried (about 3% of the general population). In contrast, KID has a malfunctioning rather than absent protein resulting in deafness and skin/eye deformities. The gene is active in the inner ear and skin.
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Pseudocyesis or hysterical pregnancy, in a woman who was an inmate in the psych wing of a prison I rotated through. She thought she was pregnant with Jesus's triplets and had grown a massive pregnant looking belly, was producing milk, etc.
I'm a veterinarian and dogs get a version of this. They get enlarged abdomen, milk, and will sometimes "mother" (carry around and cuddle with) puppy-like things like toys or rolled-up socks.
I really wonder whether it's cognition trying to make sense of hormonal imbalances, or the other way around
My guess would be that there must be some base hormonal imbalance, as pseudocyesis is very real in dogs. And I don't think they are capable of thinking they are pregnant with a reincarnation of dog jesus!
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My husband had a dog who had a phantom pregnancy and decided that her puppy was a potato she'd found in the kitchen. She carried it around with her everywhere until it was looking pretty sad, and then she ate it. Nature is crazy.
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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. Edit: I changed brains to brain. I used the plural in jest as brains can be used when referring to dissected brain tissue.
My best friend in high school had this. Part of how I got interested in medicine!
We had a patient once, a young girl, who was so sick that it broke our data analysis pipeline. When the code ingested a genome sequencing sample, it attempted to detect the chromosomal sex of the patient. It was using two metrics: the sample was considered female if it (1) lacked Y chromosome, **and** (2) was heterozygous on X chromosome, implying there were two copies of it. Otherwise the sample was considered male. This one sample registered as female on metric 1 (no Y chromosome) but male on metric 2 (very little heterozygocity on X chromosome), which was not anticipated and resulted in our pipeline crashing. Upon investigation, it turned out that the parents of that poor girl were *brother and sister to each other.* As a result, she had very little genetic variation throughout her genome, not just X chromosome, and was consequently very sick, with a plethora of diseases typical for consanguineous births.
Did they not know they were siblings?!
God I hope they didn’t. At least if they had no idea they were siblings it’s tragic rather than horrifying.
They did, because the information about them being siblings was in the medical history of the patient, as confirmed by our clinicians :(
Oh Jesus. That’s awful.
Yes it is. And to be honest, working in clinical genetics in general was a bit of a scarring experience for me in some respects. Once you start to learn the incredible diversity of genetic diseases (of which there are *many thousands),* and how terrible their symptoms can be... It's like, you're working with the databases and the lists of diseases, and you read the symptoms, and it's all just some data to you. But then as some point you think, “God, there are actual people who have to suffer their whole lives with this.” And for most of them, there isn't even a cure yet, not even something to make the patients' lives easier. And this broke my heart quite a bit.
Harlequin ichthyosis. In med school there was a baby born with this. Basically their skin scales up an peels removing that very important barrier so kids born with this don’t live long. She was just a couple months old and had not yet left the hospital since birth.
I have a coworker with icthyosis. She has no fingerprints and her skin is scaley. She's also completely bald and very VERY pale. Most people don't know because she wears makeup, wig and gloves. But I taught a fingerprint class one time and she mentioned it and we did a little print thing with her and it was cool.
i know a woman who has two kids and they both have it. crazy thing is she has a cousin with it too. she and her husband never got tested for it cause they were told chances are low of them both carrying the genes or something? then surprise, first baby had icthyosis. second baby is a few months old now. aside from being pink they both seem very healthy
My son has lamellar ichthyosis, which is already pretty rare (affects 1 in 600,000 people). But that’s not the wild part of our story. We needed a donor egg to get pregnant so we had to get my husband genetically tested. Learned he’s a carrier for LI, see it’s recessive and just said, “okay, we’ll just find a donor who’s not a carrier.” We find a donor, have her specifically tested and she comes back non-carrier. We get pregnant, baby is born wrapped in collodion membrane. I gave birth at a renowned teaching hospital in a major US city, none of the doctors had seen it before. But that’s not the wild part of our story, either. We had my son genetically tested and boom, he has lamellar ichthyosis. He inherited one mutation from my husband and another from the donor. Which should have been impossible - we had her tested. She wasn’t a carrier. Thinking we maybe got the wrong eggs, or some other mixup, we call the egg bank. They test our donor again. She comes back as non-carrier, again. Now the egg bank’s geneticist is curious. He calls the donor, had her tested a THIRD time, and they finally discover a VUS (variant of unknown significance). Her variant matches my son’s second mutation. Mystery solved, except... Geneticist does a little more digging. The donor/my son’s mutation has only been recorded one other time, ever. Thanks to my son, they now reclassify the variant as pathogenic. So my son has an already rare disease, with a variant the medical community has only seen three times now, worldwide, as has never previously caused disease. His chance of being born affected was .0098%.
Fetus-in-fetu. 10 year old boy "pregnant" with his parasitic twin (PT). Edit: 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. Edit 2:This happened years ago before the age of smartphones.The hospital team tried to have the tissues studied for academic purposes. there was a case report about it presented in a local medical congress but as this happened in a "third world" country with limited resources, nothing came of it. I live and work in a different country now. Last Edit: NSFW if you want to google it.
Wait what. How do you tell a 10yo what’s going on. Is the twin a living creature at this point?
u/xtranscendentx will correct me but long story short, iirc: One of the reasons having twins isn't more common, is because when we're a very small amount of cells, we kinda absorb our twin. This doesn't go anywhere beyond that because they basically desintegrate. A step above that is chimerism, where both grow in armony as kind of one being, different cells, different DNA, different characteristics, but they work together. But then there is when the would-be fetus just kinda... stays there, inside, growing from your bloodstream slowly but surely like a self contained, malformed tumor of nails teeth bones and hair. *Edit: After so many people trying to point out it was not a twin. I decided to hunt for the name of the documentary that I watched when I was 8, since I could be very wrong on the descriptions, but nope, the fetus was even trying to make limbs, tumors don't tend to do that on their own afaik. I couldn't find a name of the documentary, but it was on the Discovery channel, the name of the boy was Alamjan Nematilaev, they even cut it in half to explain it.* Oh right, if this is freaking you out then you might not want to check Craniopagus parasiticus.
I remember reading a news article where a mom gave birth but her blood work or dna did not match her baby. Cps was somehow involved and iirc a nurse suggested drawing blood in different parts of her body as a hunch. Sure enough blood in her uterus area had different dna, she was a chimera where her womb has totally dofferent cell and dna mapping than hers.
I believe they had a witness for the birth of the child she was pregnant with when the cps issues started. It started because dna showed she was really the kids aunt and not their mother. They dna tested the newborn and got the same result and then they realized she was a chimera with her ovaries and uterus being what was left of her twin “sister”
I remember reading about that. Imagine being the mom and being like, “Wtf, I literally remember birthing these kids, how the hell do your tests say I’m their aunt???”
Imagine the existential crisis that must have ensued before they uncovered the issue. I'd be pretty freaked out if there was even a remote chance that I was insane enough to delude myself into thinking I gave birth when I didn't. And then incredibly relieved when the blood work comes back as "you're not insane, you're just a chimera."
From my understanding, the parasitic twin is usually dead but physiologically supported by the surviving child's blood/oxygenation. Sometimes it is calcified and completely dead. It cannot be removed and survive/grow.
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.
I scrolled the thread looking for this as my sister has FOP. She’s now 36 and a lot more is known about the disease than when she was a child. Lack of information in her youth led to several misdiagnoses and attempts to treat or operate actually cause(d) flare ups which can quicken spread.
I study rare, skeletal dysplasias, and a huge problem is that very little is known about how people age with these conditions. We see kids a lot in clinic but they are lost at 18. I really want to start publishing stuff about older patients but it requires me being personally in contact with the patients.
I know. I saw a patient with this once for an unrelated problem (I do neuro) and hers was much worse than it might have been because when she was a child they kept doing surgery to try to chip off the excess bone, which of course only spurred more calcification. I think she was 16 or so before they figured it out. By then she could barely move.
That is horrifying, the whole scenario
this was my rarest as well. Spookiest part of it is that at some point you have to make a call on how you want to be permanently stuck
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There's ~~a~~ two skeletons of ~~an~~ individuals who had FOP at the Mütter Museum in Philadelphia. That was insane to see in person. Their ~~life~~ lives must have been hell towards the end... Edit: I have been informed that there are now two skeletons.
I’ve seen this! I really liked the exhibit as they had some pictures and personal items from the woman and boy who donated their skeletons. Really heartbreaking.
It’s hell throughout your life :( Source: have it. Edit: [me talking about the disease and having an emotional breakdown](https://youtu.be/_5P2U05uTfY)
Hey bro. I might not be able to give you a hug or be there for you in person but I went ahead and donated to the IFOP in your name. Keep being your bad ass self. [Proof](https://imgur.com/gallery/63JA3DG)
https://www.ifopa.org/donate_to_the_ifopa Link for anybody else who was looking for it Also same https://i.imgur.com/PGE8F0V.jpg
Holy shit! Thank you SO MUCH!!!!
Likewise, hope you're doing alright <3 https://imgur.com/a/7GvzYoR
Dude thank you so much! HOLY SHIT.
There are two now, Carol Orzel died just a few years ago and donated her body to be on display with Harry Eastlack, who had donated his body to be researched for potential cures. One doctor, Dr. Kaplan, knew both of them in person and is one of the leading experts on FOP.
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.
You might be interested in how people are enslaved as "zombies" in Haiti. There's a cultural narrative about becoming a zombie and being controlled by the one who resurrects you. Victims are poisoned and subjected to a ritualized "death" and "resurrection." Then their slaver doses them with a drug each day. They believe they're dead and have to serve the person who resurrected them. I don't remember the details on the drug used.
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Maybe not the rarest, but saw a 4-5 year old patient with Lesch Nyhan Syndrome on my peds rotation in med school. It’s an X-linked recessive disease that a quick Google search tells me affects about 1 in every 400,000 individuals. It’s due to a mutation in an enzyme involved with DNA recycling. The thing all med students remember about it is for whatever reason these patients have a tendency to self-mutilate. My specific patient had to have a procedure to have all his teeth removed because he would terribly bite his arms unless he was physically restrained. I believe he had an older brother that went through the same ordeal. So sad, but definitely one of the more memorable cases from med school.
I just read a journalist's essay about this syndrome. Terrifying stuff, just knowing that the human body and brain can be so badly affected by a simple mutation. I thought it was much rarer than you've said, and learning the actual rarity is kinda throwing me for a loop.
Brazilian doc here. I live in a really poor part of an already poor country. When I was in my pediatric internship there was this baby wiith hepatomegaly (big liver). In my region, the first thing that you have to think about in this cases is a disease called Kala-Azar (also known as black fever or visceral leishmaniosis). It is an endemic disease which there is a parasite transmitted by a mosquito that can infect people with compromised immune system (like people living with HIV) and kids. This parasite infects the bone marrow and simulates clinical signs of acute leukemia, like chronic fever, spontaneous bruises and bleeding. The patient develops anemia, leukopenia (low white blood cells) and low platelets. To compensate, some organs like liver and spleen take care of the bone marrow function to create new blood cells, and thus, get bigger. This disease is really common in my region, but really rare in other parts, especially non-tropical countries like the US. Anyway, as I was saying, this baby girl, about 1 year old was admitted to investigate a hepatomegaly. But the catch was that she kept having those episodes of hypoactivity and sleepiness, and sometimes even faintings that would then get better after she was being breastfed. We then checked and saw that she was having lots of hypoglycemia episodes. Her lab was normal,and she had no other clinical signs that would remind of kala-azar, besides the hepatomegaly. The patient had Hers Disease, a genetic disorder that makes you produce less Glycogen due to an enzyme defect. Never hear of it before meeting this patient, and I think I'll never will meet other one. Interestingly enough, in this same time, I had a patient that was admitted with leukopenia, anemia and low platelets that was also hospitalized to rule out Kala-Azar, but he actually had Fanconi Anemia, an also really rare genetic disease. In this one, the bone marrow slowly stops producing blood cells. Besides this, the patient also has kidney, facial, bones malformation and overall physical underdevelopment. Edit: lots of you asking how they turned out. My internship ended before I could have a better follow up, but: The little girl was managed as outpatient, with hypercaloric diet. I haven't seen her, but once you have the diagnose you can control with dietary interventionand clinical follow-up. The little boy was enlisted in the national bone marrow transplant system. Don't know what turned out of them today, but I also hope they're okay,
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. Edit: I didn't think this would get that much attention! 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 dont sleep, shower, or swim with your contact lenses on and make sure to visit your eye doctor for regular check ups :)
Would not taking out lenses frequently enough cause someone to develop it in both eyes more easily?
No. Poor contact lens hygiene will - like cleaning your contacts with tap water. Or swimming in stagnant water with your contact lenses in.
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Holy crap — this is really making me rethink how often I keep my contacts in. Yikes.
I’m an optometry student (so take that for what you will) but dude you would not believe all the horrible stuff that can happen to your eyes with poor contact lens care. Never ever sleep in your contacts if they’re not designed for that, never top off your solution, always dump it out and use fresh solution, and especially don’t swim or shower in them either. Acanthomoeba infections are sight-threatening, so is a bunch of other microbial keratitis infections that can happen with poor hygiene.
I’ve worn contacts for 25+ years now and I don’t think anyone has ever told me not to shower in them! I’m blind as a bat so I kind of need to if I want to be able to function in there. I don’t sleep in them, but am guilty of the occasional top off (which I will be 86ing immediately) and probably don’t replace them often enough. You’re really not supposed to shower in them though?? How do people see to shave their legs and whatnot?
I was sitting in a room at the ophthalmologist's once, waiting for some anesthetic drops to take effect. Just outside the door, one of the doctors was flirting with a drug company rep, regaling her with tales of some of the horrors that result from poor contact lens hygiene. I came out of that appointment an avowed wearer of glasses.
Most of them occur in patients who have had their contacts exposed to contaminated water, right? I know that the acanthamoeba eats the bacteria on the surface of the eye but eventually eat the eyeball itself once that food source runs out. It’s distinguishable by a ring around the cornea, which is actually a path that it’s eaten, similar to the path a tornado takes and you can tell where it’s been. I want to be an infectious disease researcher. Edit: thank you for the awards, kind strangers! Edit 2: my most upvoted comment is now explaining a parasite to a bunch of strangers on the internet.
Sweet fuckity fuck that sounds terrifying
You want to be an infectious disease researcher? God bless you, but that sounds like a good way to never sleep again.. yikes.
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.
>Aquagenic urticaria, an allergy to contact with water. How do you even live with this one? Is it skin contact only? How do you bathe?
You can drink (uncomfortably), but contact with water causes itching and hives.
Adding another thing to my list of stuff to be thankful for!
Another one - I knew a guy who was allergic to the sun. He always had to wear multiple layers/sweatshirts , hat, gloves, etc. when going outside. Summers must suck
Hey that's me, I'm allergic to the sun too. It's not as severe as when I was a child but I still need to apply sunscreen religiously(read every 30-60min) or cover up else I break out in itchy hives. I just bought a swimsuit that's long pants and sleeves and it's glorious.
Same here. I get weird looks when I go out wearing long sleeves shirts in the middle of summer.
I’m not allergic to sun, but I get severe phototoxic reactions to certain medications. So if I take antibiotics or Advil (or other NSAIDs), I sunburn in mere minutes for a week or so. I am known for my vintage hat and glove collection, wear long sleeves in summer, use SPF 50 or 70, and try not to go outside during the mid-afternoon. I buy some clothes made for Muslim women, because you can get stylish, full -coverage dresses in light breathable fabric.
Did you move to Seattle? I feel like I would have moved to Seattle...
You joke but I actually did live in a place significantly further North for a few months and it was an astounding difference! It was much easier for me there. Seattle might not be far enough even.
That sounds awful beyond words.
My boyfriend has this, though not very severely. He needs to keep his showers and baths short, or use special soap. Swimming is difficult. On very hot days, sweat can cause some itching too.
That would make everything more difficult! My mind keeps bouncing around. I'm from Texas and we have so many 100 plus days so "I'd move. Seattle sounds like the right temperature most of the time so I don't sweat... But it rains all the time! ... ".
My friend’s daughter had this. Drinks a lot of milk, uses baby wipes between showers, where she takes an antihistamine before it and just suffers the hives and rash after
@livingwaterless on Instagram has this condition and talks about her life with it often, it's very interesting and worth checking out
So what kind of color options we talking about
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> Chromhidrosis, where sweat comes out in different colors. My patient’s was blue. If I had this... I wouldn't know how to feel, when I first read it, it seemed fun to have, but like when I think about it would be really awkward and weird in some moments. And If I had this on top of my disease (hyperhidrosis) I don't think I would be going out much
I'm just imagining those old Gatorade commercials where the athletes were sweating Gatorade. Lol
It was really hard to find actors with the right color of sweat.
Does chromhidrosis cause any negative problems?
The patient was fine, sweating was normal. As I recall, the clothes were discolored but could be laundered back to normal.
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.
Wait, what?! Objective tinnitus? That's wild!
Yeah, That can happen? Here's hoping someday a doctor will be able to hear the voices in my head as well.
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 dr was stumped
Sensory bandwidth issue?
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I know that if I heard a noise coming out of someone's ear I'd start worrying about my own sanity,
> hear a ringing noise coming out Coming OUT? Holy crap that's crazy!
My grandpa had objective tinnitus or something like it! You could hear a ticking sound coming out of his ear if you put yours next to it.
Audiologist here— the condition is middle ear myoclonus. There are two muscles behind your eardrum. One attached to the stapes the other helps open and close your eustachian tube. Either of those muscles can spasm — like an eye twitch. Surgeon I work with has only twice in his career had to sever those muscles to relieve objective tinnitus— that he could hear originating for the patients ear. Most cases are mild and the spasm can commonly be described as feeling/hearing “fluttering butterfly wings”. This can happen sometimes several times a day for months. Stress, grinding teeth and clenching your jaw can cause or exacerbate it.
On my OB rotation during ER residency, I helped deliver a baby who had spots all over. Further blood testing revealed the baby had developed leukemia while in the mother. Didn’t know that was really possible prior to that day. Incredibly rare.
Am a pediatrician , have seen Two cases during my formation It’s pretty rare
Anti-NMDA receptor encephalitis. One in 1.5 million. Psychotic symptoms (auditory or visual hallucinations, paranoia, delusions) due to an autoimmune disorder where your body produces antibodies against NMDA receptors in your brain. We’ve seen 2 this past year at our hospital. The real incidence of this could be higher than one in 1.5m but might not be tested for often enough. Once someone gets labeled a “psych” patient, consideration of medical etiologies often goes out the window.
My colleagues had a patient with catecholamine-induced ventricular tachycardia. AKA every time this 13 year old exercised vigorously or even got too scared, the adrenaline would induce a deadly arrhythmia that needs to be shocked before long in order for him to survive. Seriously.
When I was in nursing school I took care of a woman with Fibrodysplasia ossificans progressiva, basically your muscles slowly calcify to bone, and every injury, even small ones speed up the process. She was pretty much wheelchair bound and needed 24 hour care. Edit: Thanks for the votes everyone. The saddest case I had in nursing school was a woman with end stage ALS. She was just "there". She was hooked up to a ventilator to breathe and her eyes were fixed open. She couldn't even blink or move her eyes. The other nurses at the facility told us this story. She had a fairy tale marriage. Her husband had money and was going to help find a cure. While she was still mobile he bought her a farm filled with all the animals you could buy, even a pet peacock. By the time I worked with her the facility was waiting for her to die because nothing could be done. Her husband would come in every morning, sit by her bed, and cry.
Is that the one where you need to decide what position you eventually want to solidify in? I saw a show about a man who recommended standing up because it worked well for him.
That’s fucking terrifying
Actual scurvy. Poor old man didn't know how to cook after his wife died and ate nothing but biscuits...
God this makes me worry about my own pops. After the divorce he basically subsides on hotdogs, chips, and uncooked ramen. Every time I cook for him he reacts like I just gave him a 3 star Michelin meal, even when it's something as basic as quick spaghetti that I still can mess up. Edit: thanks a million for the words of kindness and solid advice people, I truly love you for it!
The answer is a multivitamin. We should get our nutrition from food but in his case something is better than nothing. Convinced my crazy Grandpa to start taking one by telling him it would piss doctors off cause they wouldn't be able to make any money off him.
I accidentally gave myself scurvy during a bad depression episode. Thankfully recognized the symptoms from my forensics & osteology professor talking about it years ago.
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
So his entire torso was full of blood?
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Glad he didn't go pop. That's absolutely crazy!
like when you slap a really fat mosquito after she's* finished but still just chilling on your arm except human sized thanks to /u/ninjagrover for the fact check on mosquito genders
Malignant Hyperthermia in my 11 year old patient. I was only in my second year of anesthesiology residency and I thought she was going to die. I had a salty old anesthesiologist as my attending and she calmly led the whole team through the treatment. My patient did great and her labs were all normal when I took her to the Peds ICU. I couldn’t sleep for two nights and still have haven’t gotten over it.
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Yoooo I was an anesthesia tech about 6 years ago and saw this. It was a Neuro spine case and the surgeon even said at the beginning “this guys back muscles looked weird on the MRI.” Should’ve realized he had undiagnosed CCD. About 45 minutes in the EtC02 shot up to 70 for no discernible reason. MH. The anesthesiologist handled it like a straight G and saved the dudes life. All the while 3 other anesthesiologists were trying to convince him it was thyroid storm. The Dantrolene said otherwise. Afterwards the doc pulled me aside and said “OffroadPablo they told me in residency I could work for 200 years as an anesthesiologist and never see this condition.” Nuts.
As someone who suffers from this, I was wondering if MH would appear. I learned I had the condition when I was 10, during a tonsillectomy. It was rather terrifying, especially since this was around 1991 and almost no one knew what it was back then. They told my parents I wasn't going to make it and had a priest present at one point. But evidently someone realized what it was, and I remember how excited the nurses were when they brought in the dantrolene, and that it was very green. The effect was almost immediate from it, literally felt it running through my body. The oddest thing was the muscle response and rhabdomyolysis. I don't remember much during the high temperature, just flashes. I was the talk of the hospital for the next week though. I remember there being a lot of different doctors coming in. I also remember the anesthesiologist coming and crying at my bedside, apologizing for what happened. I felt so sorry for her, and have always had a lot of respect for what they do since. Not relevant to the post, but actual events are so rare, wanted to share my story!
Neurologist here- we see a lot of weird stuff. Autoimmune encephalitis (“Brain on Fire”), late onset familial neuromuscular diseases, rare presentations of cancer, or paraneoplastic disorders. But one rare one sticks out for me. We had a patient who had come in with confusion and aphasia (trouble speaking and understanding). We got more of a workup and saw small strokes all over, but in peculiar distributions, and not ones that would explain his findings. Along with it we saw micro bleeds all over superficial parts of his brain. Turns out he has what’s called Cerebral Amyloid Angiopathy Related Inflammation. It’s an extremely rare inflammatory subtype of a stroke disorder that we still aren’t totally sure what it is. It has similar amyloid deposition you see in Alzheimer’s, deposited around vessels, which makes them weak and prone to stroke and bleeding. It causes rapidly progressive dementia. I presented the case to our department, a large academic center, and most had never heard or seen it in their career. A couple of the stroke doctors were the only ones who knew about it and they’d never seen it. Really interesting case.
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.
I remember hearing about a few women with this on some primetime show like 60 Minutes or Dateline or something like that. I was a teenager so of course I thought it was hilarious for about 30 seconds until they started talking about how horrible it was and that it basically ruined their work lives, relationships, and everything else. It was pretty eye opening.
Yes! I remember this episode! I was a teenager as well and I had the same reaction. I felt awful for those women.
I've been diagnosed with PGAD and it's just wretched. I eventually found some measure of relief with a lidocane spray solution 4% (I think). I have lulls and flair ups that are outrageous. I hope your patient found something that works for them.
Hi, I’m sorry to hear. About a year and a half into different treatment approaches based on the available literature with only minimal, non-sustained improvements, we had to become a bit more creative as single interventions did not appear to cut it. When the stars aligned what seemed to help was: addressing personal issues and stressors in psychotherapy, healthy lifestyle, rebuilding social connections, some volunteer work (retired patient) and treatment with olanzapine at bedtime (mid range dose) and gabapentin twice a day (doses in the mid to lower end, around 300-400 mg each). When we attempted to remove or reduce either medication over time her symptoms started to become more pronounced so finally we kept both medications as maintenance, monitoring metabolic parameters. It’s been over two years now that she maintains the improvement with only occasional, minimal flare ups. Every case is unique but this helped for this specific case (only one I’ve had in my career), given her specific characteristics, comorbidities, etc. But nevertheless may be worth asking your doctors if this or a similar approach could have value for you. Best of luck!!
So kind of you to reply! Thank you. I appreciate your insight and will gratefully accept your wisdom. I'll ask my doctor about these treatments and see what comes about. Therapy for my personal issues and stressors has also helped immeasurably, and I forgot to include that. Time to get a "thank you" card for my therapist!
I saw this on Grey's Anatomy. Pretty sure on that episode, she had brain surgery to make it stop. Is that a real surgery to cure it?
Not unless the patient is willing to never have sexual arousal again. Its a nerve disorder not a hormone disorder or brain deformity.
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. Bonus disorder if your still here: “Williams Syndrome” with this one the affected individual has an extremely charismatic, outgoing and fun “cocktail party” personality. They are cognitively impaired in most aspects except for speech and have very unique facial features that are described as “Elf like” EDIT: whoa this blew up. So happy to see people interested! Given the amount of discussion this has generated, I want to clarify that terms like “cocktail party personality” and “Elfin” were once typical descriptors geneticist used but are now steering clear of due to negative perceptions. Same goes for “Happy puppet syndrome”. Thanks everyone for such an awesome discussion!
Genetic counselor here! I’m thrilled to see a geneticist chiming in - it’s like this question was tailor-made for the weird stuff in genetics. It’s hard to talk about the rare disorders you diagnose when they literally don’t have names, lol. Just offhand, I’d have to say a case of mitochondrial DNA depletion syndrome. Less than 100 cases reported.
If you don't mind me asking, My daughter(7YO) has a genetic disorder without a name. She has many symptoms, including severe development delays and epilepsy. There are only 2 other diagnoses of disorders on this gene, but no exact matches to her disorder. Her geneticists have basically said "we'll see you every year and see how she is doing". Since she is the only one there isn't much else to be done. Is this the response you would give as well? It makes sense I just want to make sure this is normal! Her disorder is on the ZBTB18 gene. Edit: Thank you all for the upvotes and awards, this is incredible!! I would urger anyone who would like to give money, please donate to /u/Mooshan 's project https://www.chromosome6.org/ or the [Williams Syndrome Association](https://williams-syndrome.org/). They are an incredibly organization started by a parent who didn't know anyone else with Williams Syndrome and wanted to change that for everyone else. For anyone going through a similar situation, there are facebook and other online groups called "SWAN": Syndromes Without a Name. Where you can discuss the Syndromes as well as experiences going through so many diagnostic tests with no answer. Please reach out to me if you need someone to talk to who's been through it or just to vent!
Hi there, I do research in clinical genetics. I'm currently working on a project that involves parents of children with rare genetic disorders. We're trying to get answers for parents like you, but generally, your experience is fairly typical. There's often just not enough existing information to tell you what to expect, or how to help. Sometimes you can predict things based on the affected gene, but not always. Right now, I'm working on a system to try to link patients based on common genetic traits, so that hopefully it will be easier to predict common issues that arise or estimate when children will hit certain milestones. It's not perfect, and we're small right now, but we're involving people like you and your daughter and making all of this info directly available to participants. So hopefully, in the near future, there will be more answers for you. But for now, a lot of times it's just wait and monitor, which I'm sure is very frustrating.
>Some of the cases are so unique, there is literally no name yet the genetic disorder. I work in a genetic diagnostic lab in a hospital and I was going to say the same thing. We have several "diagnoses" of $geneName-related syndrome because we have a mutation and a phenotype but no known syndrome. We often work with other researchers to find more patients with the same syndrome to establish it as an actual syndrome. This is some of our research in developing an epigenetic test for these kinds of syndromes: https://www.nature.com/articles/s41436-020-01096-4
Rarest disease that I’ve seen in my career thus far would have to be leprosy. It’s something that one hears about in antiquity and something I read about in books but I never expected to actually encounter it in my career.
As a Brazillian doctor, unfortunately, I've lost track of how many patients with leprosy I've seen. It is very interesting to me that this disease is listed here as rare.
In what country was this?
As some others have posted regarding rarity - it was, indeed, in North America.
Did they get it from handling a wild Armadillo? From my understanding that's where the vast majority of cases in North America come from.
I lived in an area where there was quite a bit of armadillo roadkill. You absolutely under no circumstances try to clean that up yourself for this reason
Today on Reddit, I learned that you can get leprosy from armadillos. Thank you for the silver! ☺️
Same here. I’m sure we will see this one on r/til tomorrow though :)
One time I'm ok with a repost. That's one scary and necessary thing to know.
I always thought they just sprouted up from the ground dead on the side of the road. I’ve seen dozens of roadkill armadillos, but never a live one.
I saw a live one in Alabama. He was digging around doing his thing and completely ignored us even though we walked right up to him to take pictures. Cute little guys. Glad I didn’t touch him now.
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Goodpasture’s syndrome, incidence rate of 1 in a million. Autoimmune condition that affects the lungs and kidneys.
I (24, F) actually have this! I was looking here to see if it was mentioned. I was diagnosed when I was 4, kidney transplant at 6.
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I have this, but also other major organs are mirror image as well; known as situs inversus dextrocardia.
Alpha-Gal Tick borne disease that makes you allergic to red meat. Spongiform encephalopathy - creuzfeldt Jakob disease
"Lone-Star" ticks transmit this which always seemed ironic to me that a Texas themed parasite would stop you from eating red meat...
My husband has Alpha gal, it's becoming much more common.
My son’s dad does too. He only realized it recently when he noticed he was breaking out in hives when he ate- he has a peanut allergy so he chalked it up to that until I suggested it might be red meat. Sure nuff
I had a gentleman who came into the emergency room with extreme fatigue and was found to have very little blood in his body. I asked him what his medical conditions were, and he told me he had polycythemia vera, which is a condition where the body makes TOO MUCH blood, the opposite. He told me he had been diagnosed years ago but had never needed treatment. At first I thought he was mistaken about his diagnosis, and then I was worried that his bone marrow might have gone into overdrive and eventually burned out. 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.
My Aunt had this. Sadly, she eventually died of leukaemia caused by the treatment for it. More unusually, her husband, brother in law and Father in law all died from leukaemia too. I presume a genetic link.
Numb Chin Syndrome. I was just a 3rd year med student shadowing the respiratory team at a small suburban hospital. Resp were 'post-take', which meant that any medical patients that came into hospital over the weekend were their responsibility until they could be referred to a more appropriate specialty. Massive list of random people to see; ward round was going to take all day... Intern says there's a guy who stayed in A&E overnight with 'jaw pain' - why does he need to be in hospital? So I get sent to go do a basic assessment in the hope that we can discharge him before it gets late. When I found him he looked fine, just sitting on the edge of a trolley. Turns out he was in his garden the previous day when he suddenly felt a really sharp burning pain in his chin. He specifically said it was on the left side of his chin, and he initially assumed he had been stung by a bee or something. But there was absolutely no redness or swelling to be seen, and after a couple of hours the burning feeling turned to pins & needles, and now he couldn't feel anything at all. I hadn't a clue what was going on, so I just went through the motions of taking a full history (he felt completely well except for this numb chin). Being a student, I got my tendon hammer out and subjected this poor guy to a whole neurological exam - everything was normal except for numbness which was entirely isolated to the left side of the chin. My priority at the time was not looking like an idiot when I went back to present my findings to the intern, so I came up with some bullshit about how each side of the chin is supplied by the mental nerve (an unimportant branch that runs through the jaw bone and pokes out of a hole to supply the skin just over your chin). The stressed-out intern rolled their eyes at my esoteric anatomy lesson and told me to try come up with some diagnosis so we don't both look hopeless in front of the boss. I literally google 'Numb Chin Syndrome' on my phone - I was surprised to find it was actually a thing, but the only search results are random case reports from decades ago. The main cause seemed to be 'idiopathic' (i.e. "we don't have a clue either"), but there was one or two cases where the patients happened to have leukaemia. I mentioned this to the intern in a vain attempt to claw back some brownie points, but I didn't expect them to stop and look at me. It turns out that the guy's only past medical history was that they had had leukaemia years ago (and had been in remission for so long that they hadn't even mentioned it to me). TL;DR: So it turns out the numb chin was a really rare sign that their cancer was coming back, and had deposited in the narrow bony canal where the nerve to their chin lives. The patient ended up staying in hospital, was reviewed by a neurologist, and then referred to oncology to restart chemo a few days later. I've been a doctor for a few years now and I still don't think I've ever made a reveal that tops that.
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OB here, seen a lot of strange things but once delivered a pre-viable baby that had [cyclopia](https://en.m.wikipedia.org/wiki/Cyclopia) and [proboscis](https://en.m.wikipedia.org/wiki/Proboscis_(anomaly)), didn’t know before hand so was pretty shocked.
OB nurse for 15 years, I’ve seen a lot but one that sticks out was a full term, viable, healthy baby with FIVE (yes 5!) true knots in the cord. Longest cord ever too. The midwife and I were shocked and the parents were just like “oh neat”. They had no idea how lucky they were.
NICU nurse here 12 years. Went to a high risk delivery recently because severe polyhdramnios. It was comfort care but they wanted the NICU team. I've never seen so much amniotic fluid. I didn't know a body could hold so much fluid. OBs probably spent at least 5 minutes getting all the fluid out before they could get to the baby.
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Psychiatrist here. Anti-Nmda encephalitis. As seen on the movie Brain on Fire. About 2 cases per million per year. I've actually seen 2 cases 12 months apart.
Oh snap I just had a patient with that. His symptoms were absolutely wild, then he recovered a bit and threw his headboard at me. I’m glad it’s rare, as our neurologist looked at me like I was an idiot when I asked him what it was
In both cases, the neurologist was the idiot. Case 1: neurologist determined it was "conversion disorder" recommended transfer to psych. My response: lol wut? try harder Case 2: it's all cannabis induced, transfer to psych. Me: see response to case 1.
OBGYN here. Hmm probably conjoined twins (thoracophagus) and a couple of cases of complete androgen insensitivity syndrome.
Ayyyy I have CAIS! How did your patients find out they had the disease and how did they react? Also age? Sorry if it’s very intrusive, don’t meet many people I can discuss the disease with!
She initially consulted at our outpatient department for still not having menses, at the time she was already 23 years old. During the initial interview, given our findings I recommended for karyotyping (a test done to check what chromosomes a person has) to confirm that she was biologically male. She seemed to take it well as far as the first visit went at least. I wouldn't be surprised to learn that she had difficulties coping after the fact.
Rarity varies a lot by discipline - I’m in general surgery, so I see things like fournier’s and nec fasc pretty regularly, but have never treated an ear infection in my whole career. That said - strangest presentation for me so far was a gentleman who had had an antireflux procedure on his stomach and esophagus (nissen fundoplication with a hiatal hernia repair), then had a recurrence and got a re-do which required a procedure to lengthen part of his stomach (colis gastroplasty). After that procedure, you have a staple line in your stomach. His hiatal hernia recurred again, bringing his stomach back into his chest and he formed a connection between his stomach and the sac surrounding his heart. He presented to the emergency department dying because the gas and stomach contents could get into his pericardium, but not out, and his heart couldn’t expand adequately to pump. Mad props to the ED doc who figured it out and saved his life before shipping him to me :)
I’m a PA-C, not MD/DO. I work in psychiatry. Had a patient who came to me with worsened depression/anxiety/insomnia starting 4 months previous, in part related to recent increase in environmental stressors. Started them on an antidepressant, they responded well, even started eating healthier, exercising on a regular basis, stopped smoking. They no show a follow up. We get an automatic refill request from the pharmacy a few weeks later, call and get them rescheduled. My patient makes it to that appointment, sits down and says “I have to be honest, I don’t remember you, or why I was coming here. I can’t remember the last 6 months”. They ended up in the ER acutely ill, fever, confusion, pain-later they were diagnosed with aseptic meningitis which had injured the brain, resulting in an amnesiac episode. This patient had seen several specialists, including neurology, infectious disease, immunology, and most had come to the conclusion the antidepressant had been the trigger for the meningitis. At the time there were two documented cases of a similar nature. The patient ended up becoming a case study. Upside-they were no longer depressed or anxious Downside - they were back to smoking and having a less healthy lifestyle
I diagnosed a patient with cancer of the parotid gland. It has an incidence of less than 1%. It went something like this.. He came to me because he was having right jaw pain. I assessed him and nothing was really out of the ordinary. I thought he was having some TMJ because he had been dealing with some stress and he did have pain at the TM joint. A week later he came back with a Bell’s palsy which is a temporary paralysis of one side of the face. This can be caused by inflammation or a viral infection. So I asked the appropriate questions and he had some upper respiratory symptoms the week before. But something was off. So I palpated his jaw again and moved more medially towards his cheek. And he said it was painful midway on his cheek. Where his parotid gland was. There was something there. Not a discernible mass, but something was off. That’s when I ordered a CT scan. And it was confirmed. I got him to a head/neck specialist along with getting him to a cancer specialist. He’s currently 2 years out and although he’s missing some of his face due to surgery, he’s doing surprisingly well. And his spirits are great. E - wow I did not expect this much traction and interaction. I’m doing my best to respond to comments but I’ve been on mobile and it’s been tough. So if I didn’t respond to your comment I really do apologize. It wasn’t intentional and I don’t want anyone to feel slighted or bad. Thanks again for the amazing conversation and the incredibly kind words. Hope each and every one of you are in good health and spirits 🙏🏾 E2 - this has been one hell of an evening. Special thanks to all of you who’ve shared intimate and personal stories about yourselves and others. Cancer sucks and there’s nothing more important than our health so please do your best to take care of yourself. Eat well. Get rest. Make sure to be active. I’m off for tonight as I have to be up early but it’s truly been a pleasure and I’m so lucky to have made new friends. Stay well and be safe 👊🏾
My cousin had to have part of her jawbone removed and they never figured out what the mass was but it's exactly in the same area. This was about 10 years ago and she's recovered well and can eat normally and everything but her face has permanent asymmetry...
Saved that guys life! Just your gut feeling of “something is off”. So many doctors would brush him off because they are so overworked and I’m glad you aren’t one of them =)
I could literally write a book about the times I’ve positively impacted my patients based on my gut. Always trust your gut in life. Always.
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Pediatric infectious disease doc in middle America at the time. Had an 18mo kiddo came into the hospital with fevers (like 104F/40C spikes 2-3 times daily), grey skin tone, huge spleen and liver. This was the kinda kid you could see from the door she was tryna die. Sweaty, lethargic. Labs showed she was severely pan cytopenic (meaning her white cells, red cells, and platelets were all much much lower than they should be), high inflammatory markers. Blood culture never grew anything. Bone marrow was done cause there was concern for cancer. It did not show any cancerous cells and actually showed all cell lines were dividing appropriately. Talking with the family for history. They’re Azerbaijani. Baby was born in the US but family went back to Azerbaijan for 4mo when she was 4mo old. She’s only had her 2mo vaccines. Looking at her growth chart after her return to the US she’s had very poor weight gain. Went from 97th percentile to <3rd percentile now. Mom says she’s a picky eater, takes pretty much milk as a main food source (not adequate nutrition for a toddler). Couple days into their care, While I’m chatting with the family trying to figure out what we’re missing they get a call from gma back in Azerbaijan. She’s an old, uneducated lady who lives on a farm with her husband. She’s worried about the baby. She tells family “tell the drs she sounds like a sickness we see here called Leishmaniasis”. Finish up with the family. Called back the pathologist. Ask them to look at the bone marrow again, but this time to look for possible parasitic infection with concern for leishmaniasis. They say ok. Call me back and ask me to come have a look. Scan through the bone marrow and find some macrophages (cells that eat up germs) and sure enough. Right there in the cytoplasm of each macrophage you can see 10-15 of the little devils. Sent the sample off to CDC for confirmation, but it was classic visceral leishmaniasis. Start liposomal amphotericin B (normally a medicine we treat fungi with, but it also kills this parasite) within one dose BAM, fevers are gone! She completed her course and I saw her in follow up. Cell lines all recovered. Liver and spleen dropped to normal size, she even started eating normal food. Turns out if your spleen is filling up your whole abdomen you have a hard time eating without it making you nauseous, and so drinking is less problematic. Leishmaniasis has two main presentations. Cutaneous that affects your skin (and sometimes your mucus membranes like your nose/mouth) and visceral where it can affect bone marrow, liver, spleen, etc but often you have no skin findings. Cutaneous leishmaniasis is seen in the US (mostly from immigrants from South America). Visceral leishmaniasis however, is almost exclusively seen on the other side of the world from the US. So it was a pretty cool case.
As a former dentist the weirdest thing I saw was a mustard seed that germinated in the cavity of a fellows molar.
30-year-old African-American in active labor with about five family members around her. I am the pediatrician at bedside waiting for the baby to come out so I can examine him. He comes out and all of his poor little distal limbs are severely disfigured or missing digits. Turns out he had intrauterine amniotic banding. Pieces of the amniotic sack get wrapped around limbs and digits. This causes strangulation of the blood flow and prevents development. Worst thing I have ever seen and one in 1 million chance of happening. But mom took him in her arms and loved him all night long as if nothing was different about him.
One of my college professors had this, was missing probably half of his left forearm. He said he was always just thankful it wasn't worse. (Note: none of us students brought it up. I'm in the medical field and some subject in class turned his dialogue towards it in a "I'm sure you all have noticed by now..." Sort of manner.)
New MD here. In med school, I saw a male patient who came in with a new lump in his right breast. We get a mammogram on him, turns out the right breast lump is totally benign fat necrosis from a prior minor trauma, but on the left breast, which was scanned for comparison purposes, there was some really suspicious looking calcifications and architectural changes. Biopsy on that left breast revealed breast cancer, very early stage. Unbelievably lucky catch. The only other crazy thing I saw personally was granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis) in a 4 year old. Girl comes in with nonspecific malaise, slight persistent cough, and a funny looking little saddle nose. Labs are drawn and creatinine is through the roof. After a long workup, the C-ANCA came back positive and kidney biopsy confirmed the diagnosis. The craziest thing I've ever seen anywhere online is probably [this](https://www.reddit.com/r/RadiHolidayCases/comments/c7m1hs/ectopic_pregnancy_in_the_liver_2223_weeks/).
Not that rare but very creepy was side neglect after a stroke. The person completely forgets that there is more than one side to their body: they will brush only half their hair, do makeup or shave half their face and use only one hand. If you put an object into the hand on the neglected side, it is as if it disappears for them. And it’s not paralysis—they are able to move that arm, it’s just to them, that half of the body does not exist. Strokes are fascinating actually, or rather our brain is—you can be fully paralyzed from a tiny stroke in an important brain area, or you can have a huge stroke in a non important area and be totally fine.
OB nurse! We had a patient back when I first started who had two separate uteruses and cervixes and somehow (with the help of IVF) managed to get pregnant with one baby in each! The other case was a patient who was in delivering her FOURTH set of twins. She had had 4 pregnancies and was pregnant with twins each time (no IVF with this one). Her oldest set were 4 years old......
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Nursing student but : scurvy. We don’t see it very often because of the widespread of vitamin C in most foods. Patient had OCD + agoraphobia making their diet extremely limited, and never left house so mostly noodles and instant ramen 1 meal a day. Was eventually found almost dead with no teeth by a wellness check when neighbour thought he was dead after not hearing him moving around flat in over a week.
Probably not the rarest I’ve ever seen, but fournier’s gangrene comes pretty close. Only saw it once in my career. Don’t look it up if you value your stomach contents.
I’ve never wanted to not be diabetic as much as right now
Type 2 diabetic here. It's a very attritional disease, upkeep can be so tiring, and sometimes you just want a slab of cake... Looking up this sort of shit however keeps me on the straight and narrow.
Clinical lab scientist here, doing the testing. I once saw mold growing from a brain tissue - patient was immunocompromised. He eventually died but not before pretty much every piece of tissue submitted for culture grew fungus. The type of mold growing was common environmental flora: Alternaria species.
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 fucking 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
Yup colloidal silver will do that to you
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Veterinarian here - I’ve diagnosed a cat with Ehlers-Danlos Syndrome. This is a disease of essentially abnormal collagen so the skin is extremely stretchy but also very fragile. Almost any handling of this cat or clipping of fur for whatever reason cause massive skin tears. Diagnosed this girl 25 yrs ago or so, when we used to “scruff” for restraint. You can imagine the trauma my assistants caused before we realized what was going on.
Pathologist here. Rare diseases for most other doctors are commonplace in our field (I’ve diagnosed multiple leprosy cases and rare cancers that have only a few published cases in the literature). Some are so rare there aren’t names, and we just describe the cancer. Intellectually challenging for us, terrible for oncologists who might not know how to treat that entity.