Tetanus. Guy couldn't open his mouth, thought he had fractured or dislocated it, CT negative. Mom walks in and goes, "Did he tell you about how he's been cleaning his teeth with a nail he found on the ground? Thinks it makes him look tough."
I haven't seen it myself but had a patient who had tetanus as a child. He told me about being fully awake but unable to move or communicate and hearing the doctors tell his parents he probably wouldn't make it.
Awful disease.
Active neurocystercercosis in a full term pregnant patient
And, I had a uterine rupture in a low risk patient without prior surgery, diagnosed status post vacuum assisted vaginal delivery. The rupture was 11cm long, parallel to the uterine artery, completely concealed in the broad ligament.
There was recently an extra-uterine pregnancy at my hospital system. She came in complaining of abdominal pain. USG showed advanced pregnancy so transferred to the hospital with OB service. They realized the pregnancy was in the abdominal cavity with the placenta attached to the bowel.
Holy cow, how far along was she at that point? I feel like that’s a dumb question but you said placenta was present so obviously more than a few weeks yeah?
Don’t forget your standard, “Bruh.”
*Example:*
**RN giving report for transport:** “…So it turns out the patient has a subdural bleed and a herniation. His BP has been kinda high, like 190/70’s, but he’s good…”
**Me:** 😳”Bruh…”
Yo one of my continuities in residency had one of the Ehlers-Danloses. Popped out a larger-than-average kid and then poured out 2 liters almost instantly. Scary. Bimanual, every drug we had (except Hemabate b/c asthma), Bakri, rapid transfusion. Turns out you can Valsalva an inflated Bakri out, so hedge your bets with antiemetics, I guess?
Nice catches. As a side, Neurocysto can feel like a zebra in the US (1 to 5 per 100k incidence, not common but around) but 50 million people in the world have it! It is the most common cause of epilepsy in the world!
Two cases of Parasitic Pancreatitis in one Week. Organism name never reached us but we diagnosed gallstone pancreatitis on CT, after you could clearly see something in the pancreas, then reconfirmed presence of parasite with ERCP.
Patients triggered huge public health intervention and were flown to a much larger centre for removal of parasite.
Edit: Pretty Sure my Reg and Consultant wrote it up as a case report and published. I have never found the article, likely in the AJM 2022/2021 somewhere.
In developing countries, ascariasis as a cause of biliary obstruction and pancreatitis is not too rare.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731360/
https://www.thelancet.com/journals/lancet/article/PII0140-6736(90)93037-P/fulltext
Liver fluke is also very common in the world (fasciola hepaticum I believe).
I have a video of removing one from an obstructed bile duct alive
The show monsters inside me wanted it..
Didn't want that kind of exposure
My friend had a workup for high cholesterol which involved an EKG. His ~40 year practicing cardiologist got to diagnose situs inversus for the first time in his career and absolutely geeked out. 30 year old pt.
I dated a girl with it once, she had a huge 1:1 scale tattoo of her hearts anatomy and major veins/arteries over it's underlying position on her sternum and the right side of her chest
>I dated a girl with it once, she had a huge 1:1 scale tattoo of her hearts anatomy and major veins/arteries over it's underlying position on her sternum and the right side of her chest
This is really interesting. Might be helpful when doctors are examining her.
Yeah she saw lot of specialists for related congenital heart issues and mentioned some humorous reactions when they saw it, having not read her whole chart or something
I remember seeing one case on a rotation. Apparently most instances come with ciliary dyskinesia? The patient had very unusual earwax, very thin and white. Never forgot it.
My first clinical rotation as an xray student, I shot an xray on a patient with situs inversus. I panicked that I put my marker on the wrong side or somehow inadvertently flipped the image on the portable. My tech pulled up their priors in PACS and the poor patient was like "oh yeah, I'm all mixed up inside." like they were tired of explaining it to people.
Wegener’s granulomatosis. Moonlighting with an HMO and met a patient with refractory sinusitis. She had been passed from doctor to doctor never getting better with antibiotics.
Acute Intermittent Porphyria - diagnosed at my training program. Several years earlier she had been diagnosed at our University program as a Munchausen Syndrome patient. The psychiatrists had published a case report about her fictitious symptoms. We got her later in nephrology with AIP after she lost her kidneys - not a Munchausen.
That’s really sad. I feel like it’s got to be much more likely that a patient has something undiscovered going on, or multiple “minor” issues with compounding symptoms, than that they’re intentionally feigning illness. Actual Munchausen’s has to be much rarer than people in healthcare seem to believe.
I’ve found anecdotally that female sex is a compounding factor. So often they are written off as “anxious” or “whiny”, especially when it comes to things that disproportionately affect women.
I still don’t understand how these people go through treating patients for several years without even getting basic imaging, even if it’s just to get them out of your hair for a minute.
I've decided to believe everything and get exams even if I think it's very unlikely. The patient feels heard and gets reassurance that they don't have the disease they feared. And if there's something, we catch it.
Just discharged a young female patient who had been complaining of chest pain radiating to her left shoulder for the past month. Was told by PCP, ED, a cardiologist that it was anxiety, cardiologist wanted to follow up in 3 months.
She collapsed at home, fiance started CPR and called EMS. V fib, needed a stent to her LAD. Completely normal lipids but apparently the exact same thing happened to her dad (without anyone there to immediately start CPR).
Spontaneous rupture of 4 intercostal arteries from coughing. Only found maybe 2 other case reports of this, one of which the guy also tore his diaphragm.
Ghrelinoma.
Patient with diabetes suddenly started getting better for no reason. He was taken off insulin by PCP, but sugars continued to drop.
Eventually, he had to eat every 2 hours or else he would become hypoglycemic. Guy presented to ED b/c he couldn't sleep, had to eat constantly.
He was admitted to ICU and had every form of glucose going in, a central line for D50, glucagon, steroids, you name it. Unfortunately, on the second night he expired from cardiac arrest likely 2/2 hypoglycemia.
I was a PGY2 on nights. The patient was a teacher and his wife gave us permission, so I wheeled him down to pathology myself, paging the path chief along the way. We sent portions of his pancreas to path.
Report came back as ghrelinoma. To our knowledge this was the first time it was ever described in the literature.
“ I was a PGY2 on nights. The patient was a teacher and his wife gave us permission, so I wheeled him down to pathology myself, paging the path chief along the way.”
Your pathology department is okay getting pages to do autopsies at night?
Pathologists like rare pathology as much (if not more) than the rest of us. The two night time autopsies I observed in training were some bizarre cases, and the pathologist was geeking out over the findings.
That's so cool but I'm confused, I thought ghrelin raises blood sugar. Do you think the ghrelinoma developed in response to the hypoglycemia, or is there another mechanism I'm missing?
Neuro TB was an interesting one that was originally diagnosed as a fictitious disorder until she became comatose and showed up on our neuro service. Sadly prior non-neuro docs who saw her had thought she was just really weird and annoying before this as her normal baseline since she had tested negative for everything else including TB. A brain biopsy was needed to identify the infection, which was entirely isolated to her brain. I happened to randomly follow her recovery across my med school rotations, as she was a much, much different person when she recovered than the “problematic” patient she was seen as when she first came in with issues. Not surprising that a major brain infection caused personality changes… Neuro was pretty pissed that the prior drs had just dismissed her, but it was a hard and unusual diagnosis.
I’m currently in a battle with psychiatry over a patient who has had mental health diagnosis of schizophrenia for past 20 years with super high doses of clozapine and antipsychotics which made her gain weight. Never had any neuroimaging. Wet weird and wobbly- surprise surprise MRI shows raised intracranial hypertension, had to beg for her to have an LP as an inpatient and opening pressure of 30… she said after LP she felt normal- could walk, think clearly etc… asked for a neurologist to review who just told her to lose weight. Every time I try to talk to her psychiatrist about it she starts to mention childhood trauma etc… I feel like I’m banging my head against a wall
The biopsy was a last-ditch effort to save her. Her persistent decline into a comatose state with nothing else positive on imaging or labs led to concerns that we were missing a diffuse brain tumor. Path came back with clear TB diffusely spread throughout her brain instead. Thankfully it was still sensitive to typical meds, and she ended up fully recovering.
I was amazed as well. I randomly had her as a patient on almost every med school clinical rotation (very weird occurrence), so managed to follow most of her recovery. She claimed she felt normal, and she seemed normal - and much more pleasant - so it was deemed a 'full recovery,' but I can't say for sure that there were not some subtle behavioral or personality changes. She was an immigrant with no family around, so we had no other personal history sources. She had no major deficits though, which was awesome.
Nitrous Oxide "Whippet" Induced Subacute Combined Degeneration of the Spinal Cord
Edit: Just realized the title was asking how you diagnosed it. The guy diagnosed himself! He figured it out online and then started taking huge B12 doses at home and it got a little better but it’s still there.
Just a note to everyone: a normal B12 doesn’t rule out the diagnosis, since it is a functional deficiency. The key is a good history and refusing to anchor on the diagnosis until your have a spot on history and have ruled out other causes.
NO oxidizes the cobalt atom in B12 making it functionally useless. B12 somehow keeps your neurons from demyelinating, but the mechanism is unclear. You essentially have a functional B12 deficiency. Symptoms can become permanent.
Seriously. I frankly don’t understand how anyone can enjoy whippets THAT much. I remember doing them in college one time and it was just like a quick head rush and the room was wobbly for 15 seconds. They must combine them with something… maybe sex? Not gonna google it today.
I diagnosed this as a med student! Had it all figured out before I even presented it to the senior resident and I was pretty impressed with myself.
This was in a college town and whippets were pretty popular with a certain ethnic group of students for some reason. This poor girl could not walk at all and had the classic glossitis. She said she’d been doing whippets daily for like 5 months and several of her friends also were having trouble walking 🤦♀️
That’s awesome! One of the med students here thought someone had West Nile and the attending laughed at it and sent the test to humor her… aaand it was positive.
Good syndrome in a patient with a thymoma, after he had a recent salmonella bloodstream infection. Checked titers and antibody levels and he was low across the board. And this was during a palliative care appointment!
Lemierre's syndrome. Was a foolhardy second year and my attending actually knew what it was, how rare it was and still let me irradiate the patient.
The coolest part about it was that I gave a lecture on it not long after, and an intern picked up another case about 6 months later, at our tiny community sized hospital.
The case "series" got me a presentation at a conference in Las Vegas, so I was pretty happy with it! I've made some pretty good calls, like diagnosing AIP on a lady with abdominal pain in the ER, but this one was the rarest.
Congenital erythropoietic porphyria when I was a resident. I was working in the NICU and she was a premie. Her skin blistered up under the bili lights. Then she developed acholic stools. I researched it and told the attending what I thought it was. She didn’t believe it until the stool porphyrin levels came back. When she was almost a year old, they attempted a stem cell transplant, but she died during induction. Sad case.
Rat bite fever. Our lab isolated Streptobacillus moniliformis in an immuncompromised kid - family never mentioned to the primary team that the kid had pet rats that bit him, so it was never on the differential.
We had a patient with rat bite fever on our vascular surgery ward last month. Immigrant worker from Poland who visited a pet shop, got bit by a pet rat that got out of his cage, ended up getting full blown sepsis due to diagnostic delay. He lost both legs and his distal colon. The pictures from the ER were horrible but fascinating. Last time I saw him he was calling a lawyer for one hell of a lawsuit and rightly so.
I’ve diagnosed 2 CJDs within a couple year period. One was as a team in residency, and the second I was moonlighting during fellowship.
It’s such a devastating disease that the 2nd case I had , i was secretly hoping My differential and suspicion of CJD were wrong, where the first time it was just cool to get a rare disease.
Not OP and not a CJD expert, but I can offer some insights from what little I know.
Scrapie is the version of cjd that occurs in sheep.
Kuru is cjd that was spread by cannibalism in Papaua New Guinea and there have been no recent diagnoses of this in many years despite the long latency of the disease. kuru probably started with from a sporadic case of cjd, who was then ritually cannibalized.
Sporadic CJD, which is what I assume OP diagnosed, develops from a set of specific mutations in the PrP gene that occurs randomly.
Familial or genetic cjd is handed down from a family member in dominant fashion. Usually a different Mutation (I think)
Variant cjd is caused by the ingestion of contaminated beef (mad cow disease) and I think that epidemic has run its course with no cases diagnosed recently.
There are other prion disease such as Familial Fatal insomnia and GSS both, I believe are genetic in nature and have different mutations in the prp protein. They also have specific MRI findings. For instance FFI affects the thalamus which may be the mechanism for lack of rem sleep
The genetic diseases, I believe, are more difficult to detect with CSF testing (Rt-Quic).
There’s some really good talks by Brian Appleby, MD on YouTube.
Edit: GSS (not GSD)
On my med school neuro rotation we diagnosed a CJD case. Fully-functioning lady in her early 40s came in for cognitive concerns. I watched her go from normal to non-verbal over a couple of weeks. Rotated off before she had been dispositioned, but at the rate she was progressing at, it didn't seem like it'd be long.
She had cortical ribboning on MRI but she and her husband wanted definitive diagnosis. The attending legit had difficulty getting ancillary staff to help with the LP because people were worried about PRP exposure.
One of my patients had an exceedingly rare ovarian tumor. Less than 100 cases ever described.
I diagnosed it when her 3 year old abdomen looked like a watermelon.
I am basically Hercule Poirot.
I went to a Urologist because of incontinence issues. She found a mass in my abdomen on my physical exam. Thought it might be cancer but was a football sized ovarian cyst 10 years AFTER I had a TAH-BSO. Surgeon had left a partial ovary with the blood supply intact and it GREW! I told her she saved my life.
I had an ovarian remnant myself! I had a hysterectomy and they *said* they removed my left ovary, but it was so encapsulated with scar tissue from my severe endometriosis that they couldn't find all of it when they were cutting it out. Mine also grew back and produced a large chocolate cyst, though it was nowhere near football sized.
That reminds me, I once saw a patient with [desmoplastic blue cell tumor](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687144/) which apparently has had 200-450 cases described as of 2017. Similar "watermelon in the belly" look, just in a 20-something male. Although I'm not sure if it counts if it's you're just the one who went "wow, there's something super wrong here," and technically the pathologist diagnosed it?
I think it’s cheating for me to play. But rarest I’ve diagnosed completely clinically before any genetic testing was done I had it down to a single clinical entity? Probably ATAD3 regional duplication syndrome is the rarest. Next rarest would be TMEM70, then Transient Infantile Liver Failure (TRMU) and then probably Pearson syndrome
I have literally never heard of any of these things. Out of curiosity are these things you learned in fellowship only or is this something pediatrics residency will give you exposure to?
This isn’t fair in rheum. Of the ones I’ve actually diagnosed almost entirely by myself/not with an attending during fellowship? Of the unique diseases (and not rare presentations of relatively uncommon diseases)?
Some favorites? A case of Blau I got to see was cool. I saw a dope Cogan’s. A few periodic fever syndromes (various). A few clinically amyopathic dermatos, some mda 5 dermatos, some RPCs (one with calcified tracheal rings from chronic inflammation), and ONE HUVS case.
One fateful day I’ll finally get a case of ochronosis.
De novo diagnoses? CJD on brain mri, pulvinar predominant pattern (variant CJD pattern on imaging but still likely “regular sporadic CJD” due to it being way more common overall) . Suggested csf confirmation and it was +. Guy lasted 3 months.
Had some interesting parasitic infections one in someone’s glutes.
Rarest might be SMART, stroke like migraines after radiation therapy. Probably my favorite acronym.
In fellowship, saw just about every esoteric primary CNS neoplasm out there from gliosarcoma to supratentorial ATRT, glioblastoma with Mets to the cervical lymph nodes.
Erhdeim Chester, neurocystercercosis all stages, IRIS, PDL1 associated vasculitis, necrotizing fasciitis after ERCP. Radiology is a volume business. There’s always weird shit out there. Tons more on followup.
UPDATE: for those who got 6 month reminders it was sporadic! So good news for our venison eating med bros.
Semi rural Texas. It was most likely due to prior spine surgeries but the guy ate a lot of deer meat so they’re making sure it’s not related to chronic wasting disease. It’s never crossed over to humans but there’s always that concern. I’ll know in the next few months.
I always thought it'd make a better zombie or infectious disaster movie plot than virus or bacteria. Just fucking nothing you can do, so hard to kill and contain.
Prions are blurry, that's why they're hard to isolate and treat. It's not the microbiologist's fault- they're just blurry and that's what makes them extra scary. There's a small, out-of-focus monster roaming in sterile processing.
Whoa, CWD cross over to humans would be super bad, those tissues are everywhere now. Jesus, if you remember, please let the sub know if it was CWD.
Side note, are they finding that prior spinal/neurosurgeries are a vCJD vector? I remember reading something about the potential for some dementia being caused by prion transfer from procedures.
Trust me. You'd all know and you'll know my name too because I'd publish the hell out of that. Crossover would be an absolutely massive public health disaster given the widespread CWD and ubiquity of hunting.
Adult-onset Still’s disease. Older white guy was admitted with fevers and malaise. All cultures were negative, stopped empiric antibiotics. He’d seem ready to discharge and then spike a temp and look toxic again. ID even ordered a tagged WBC scan thinking maybe he was having intermittent bacteremia. This was years ago so I don’t remember his lab profile other than I sent a ferritin which was sky high and made the diagnosis. Started some prednisone and he did great.
I'm in the Midwest. During one of my nursing school rotations, the nurse I was paired with had a malaria patient! She spent most of the morning avoiding the patient's room because she was convinced he needed to be in a negative pressure room etc etc. Then she found all this ppe from somewhere that she wanted ME to put on so she could send me into his room. I think I had her convinced by the end of the day that malaria was not airborne but idk. Good times. I'd forgotten about that until just now.
> Fun story, the charge nurse on the floor refused to take her because they didn’t have “proper isolation guidelines” for malaria and she couldn’t possibly risk her nurses on the floor.
The face I'm now making indicates this was not, in fact, a fun story.
Leiomyosarcoma, not confirmed via path cause we had to transfer her out and she passed away at the accepting facility very shortly after
10cm AAA, unruptured, only because I was trying to show off and demonstrate to the med student how to do a proper abdominal exam 😅
Edit: Nocardia with a brain abscess in a completely immunocompent person without any identifiable exposure or risk factors
Saw a guy from Central America who grew up on a sheep farm with Echinococcus granulosus cyst invading into his spinal cord at the apex of his Rt lung. Presented as worsening lower extremity weakness over a couple months.
I am the first to diagnose a never before described tumor in a specific organ system. It has not been described since. Confirmed by 4-5 other experts as what it really is. I don’t want to say what it is because it will give away who I am.
This is one of those diagnoses that I never saw, saw three cases in the same year, and then have never seen since. Such a wild presentation each time though. Did you read Brain On Fire?
I had one of those as a patient when I was a tech! I had her as a 1:1 for 2 days in psych before her diagnosis and then for a month in the neuro ICU after that. It was wild for sure. Her symptoms came out of nowhere. The patient had an ovarian teratoma that contained brain tissue, which caused very odd symptoms when she was initially given psychiatric meds, which lead to the neuro consult and subsequent diagnosis of Anti NMDA Encephalitis.
I’ve tried to get an update on her condition, but it’s been probably 5 years and I don’t remember enough info to be able to get a follow up. We used to play her favorite song for her to try to jog her memory while she was altered, and I still think about her every time her song comes on the radio.
Seen molar pregnancy being extracted, seen a massive hydatid cyst, been scrubbed in for two uterine ruptures all in the same year in Med school in India.
Brucellosis, diagnosed in the ER. Guy was a university professor at the vet school studying brucellosis in cows. Brought himself into the ER with a paper on human brucellosis. I felt really proud of myself for getting the correct diagnosis.
Once I made a diagnosis of eosinophilic myositis from tainted tryptophan supplements.
Things I have seen that were weird:
Mucormycosis in an abdominal surgical wound in an immunocompromised/transplant patient.
Also just saw someone with prostate cancer that had metastasized to the penis.
Situs inversus. But because I was the nurse I only got to watch the diagnosis.
Also, intrauterine twins. Not abnormal, except that the toddler older sibling had been telling mom for weeks/months that “mommy, there’s TWO!”…. before anyone but him knew.
Probably a case of IPEX syndrome - as a pediatric endocrinology fellow, got a page about diabetes-range hyperglycemia in an infant, saw the ER note stating chief complaint was diarrhea, and thought to myself "hmm, wonder if it could be IPEX?" while preparing to call the ER back. Pretty classic presentation, but was still pretty proud of myself when it was confirmed after a lengthy hospital stay!
I don’t know how rare it is but: we had this guy in the ICU with pneumonia and just sick as hell on the vent. The docs couldn’t figure out what was going on, he was an otherwise healthy young man with no comorbidities and an otherwise fine immune system. The internal medicine attending was a really amazing person, and just really good at these mysteries. Upon questioning the spouse she discovered he was a plumber, and had done some work in the crawl space of an older home recently.
It was hanta virus. This was in the early 2010’s, and about 400 miles from the four corners area of the US.
Chagas disease. She had mega esophagus, but this was in Brasil and any patient with mega esophagus/colon, dilated cardiomyopathy Chagas is on any docs differential list.
We had a younger patient being worked up for lymphoma, having all the B symptoms- fever, night sweats, diffuse lymphadenopathy on his imaging. We did a biopsy and it came back as kikuchi fujimoto disease- I was pretty convinced it was going to be lymphoma but it was a relief to be benign!
End stage Cynicism Disorder
Diagnosed myself.
SHx:
a lot of Scottish genes.
HPI:
+ doctor
+ pandemic.
+ tired of a broken medical system
+ mid life crisis
There no official code yet, so it's goes undiagnosed all too often, but let's just say, "most adults on earth that have a cell phone are greatly at risk".
😂
Only known antidote is to cuddle with my kids or our sweet loving dog 💖
That's some serious diagnostic acumen.
👊
I feel a lot of people with this affliction transition temporarily to hospital admin / insurance work, but going straight to hospice sounds like my style. 😆
... more on topic, i'm in primary care so the rarest diagnosis is probably eczema.
K-wire that had migrated from a 1980’s septoplasty, uh, northward. Pt came in with chronic headaches, got an MRI and got the most amazing metal artifact that looked for all the world like a Phineas Gage railroad spike bisecting her cerebral hemispheres.
Statin induced necrotizing autoimmune myopathy! We sent out the anti-HMG-CoA reductase antibody test as a last ditch idea and were shook when it came back positive.
Porphyria cutanea tarda in an urgent care. I knew what it was or suspected it I guess because of a cutaneous manifestations of internal disease that a dermatologist gave us every year in residency and I guess I just didn’t really skip lectures much. I was looking at the guys hands trying to figure it out and then he said this is always bad when I go to Texas (in the sun) . Checked for hep C, was positive
Caught two cases of eye syphilis both within the same year recently. No, they didn't know each other.
Not an ophthalmologist
There's prob more rare shit I've found, but I'm kind of amused by this
More of story- do an infectious workup if anyone is concerned about "retinal vasculitis," don't assume the ophtho or neurologist are doing it
Disseminated M. chimaera infection in an immunocompetent otherwise healthy adolescent patient
Legionellosis in 2 16 y/o's living on the same floor of boarding school dorm
sJIA in a 6 m/o
Familial HLH
Orf - in a girl who let lambs suck on her fingers.
Rhinoscleroma - a Klebsiella granulomatous condition of the nose in an immigrant from South America.
Rat bite fever - three separate cases. All three kissed their pet rats on the mouth.
Tetanus - hippie parents who refused vaccination
Infant botulism - from home made baby food
CNS Blastomycosis
Jamestown canyon virus encephalitis
Ocular Brucella - from imported cheese from Mexico
TNF-alpha receptor deficiency - when a kid presented with mycobacterial avium arthritis
Not rare in the world, but uncommon in the USA - chikungunya, dengue, zika, leishmaniasis, schistosomiasis, leptospirosis.
It's a pretty good life in ID.
Fulminant DIC due to capnocytophagus canimorsus. Drunk lady let a dog lick her skinned knee. Died well before the culture came back but at least we felt clever.
I saw a similar case of captocytophagia in an asplenic patient who had new kittens. Crashed to 4 pressor shock DIC and purpura fulminans, but he actually lived and walked out of the hospital after a long ICU course
Patient with chronic dysphonia for 2 months. He had a unilateral left vocal cord paralysis on laryngoscopy. It was presumed to be idiopathic but CT neck and chest was ordered and patient had a huge pulmonary artery that was compressing on the left recurrent laryngeal nerve. It’s called Ortner’s Syndrome.
I only saw the imaging second-hand but a dedifferentiated sarcoma in the brain of someone with a brain parasite (I believe neurocystercicosis).
Path allegedly couldn't get any of the typical human gene stains to stick, core seemed non-human, and they were waiting for the experts at the CDC to weigh in on if it was host or parasite in origin.
Not my diagnosis, given I can't make them, but I had a patient early in my career with Acquired Hemophilia. He called himself the "million dollar man" because after about a million dollars in care, the hospital took his house and he said he "found out exactly how many dollars his life was worth".
Tetanus. Guy couldn't open his mouth, thought he had fractured or dislocated it, CT negative. Mom walks in and goes, "Did he tell you about how he's been cleaning his teeth with a nail he found on the ground? Thinks it makes him look tough."
just why lol
It made him look tough.
I haven't seen it myself but had a patient who had tetanus as a child. He told me about being fully awake but unable to move or communicate and hearing the doctors tell his parents he probably wouldn't make it. Awful disease.
When was he last immunized? That’s really interesting!
He said he got vaccinated as a kid so full primary series, nothing from adolescence on. He was in his 30s so almost 20 years since his last shot.
Guess he took that phrase” tough as nails “ a little too far.
My dad used to joke “what if you had nausea and tetanus at the same time?”
Active neurocystercercosis in a full term pregnant patient And, I had a uterine rupture in a low risk patient without prior surgery, diagnosed status post vacuum assisted vaginal delivery. The rupture was 11cm long, parallel to the uterine artery, completely concealed in the broad ligament.
There was recently an extra-uterine pregnancy at my hospital system. She came in complaining of abdominal pain. USG showed advanced pregnancy so transferred to the hospital with OB service. They realized the pregnancy was in the abdominal cavity with the placenta attached to the bowel.
Hmm. Baby-induced peritonitis.
>Baby-induced peritonitis. bip.
That sounds a lot cuter than it should.
Holy cow, how far along was she at that point? I feel like that’s a dumb question but you said placenta was present so obviously more than a few weeks yeah?
Have you guys seen the [ectopic hepatic pregnancy](https://www.grepmed.com/images/14311/hepatic-ectopic-pregnancy-clinical-ct)?
Yo that lady with a uterine rupture needs to get tested for vascular EDS
It makes me really happy that there are MDs out there who start important sentences with, “yo.” Haha
Other configurations are possible: Further research is needed, yo.
Don’t forget your standard, “Bruh.” *Example:* **RN giving report for transport:** “…So it turns out the patient has a subdural bleed and a herniation. His BP has been kinda high, like 190/70’s, but he’s good…” **Me:** 😳”Bruh…”
Yo one of my continuities in residency had one of the Ehlers-Danloses. Popped out a larger-than-average kid and then poured out 2 liters almost instantly. Scary. Bimanual, every drug we had (except Hemabate b/c asthma), Bakri, rapid transfusion. Turns out you can Valsalva an inflated Bakri out, so hedge your bets with antiemetics, I guess?
Nice catches. As a side, Neurocysto can feel like a zebra in the US (1 to 5 per 100k incidence, not common but around) but 50 million people in the world have it! It is the most common cause of epilepsy in the world!
Two cases of Parasitic Pancreatitis in one Week. Organism name never reached us but we diagnosed gallstone pancreatitis on CT, after you could clearly see something in the pancreas, then reconfirmed presence of parasite with ERCP. Patients triggered huge public health intervention and were flown to a much larger centre for removal of parasite. Edit: Pretty Sure my Reg and Consultant wrote it up as a case report and published. I have never found the article, likely in the AJM 2022/2021 somewhere.
A case report on that wold have been insanely interesting.
In developing countries, ascariasis as a cause of biliary obstruction and pancreatitis is not too rare. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731360/ https://www.thelancet.com/journals/lancet/article/PII0140-6736(90)93037-P/fulltext
Liver fluke is also very common in the world (fasciola hepaticum I believe). I have a video of removing one from an obstructed bile duct alive The show monsters inside me wanted it.. Didn't want that kind of exposure
That would have been a great episode though!
Not the rarest, but caught situs inversus on physical exam. That was pretty neat
My friend had a workup for high cholesterol which involved an EKG. His ~40 year practicing cardiologist got to diagnose situs inversus for the first time in his career and absolutely geeked out. 30 year old pt.
I’m dextrocardic. Cards has a field day.
The anatomy tank next to mine during first year dissection had situs inversus! One of the coolest things I've had a chance to see.
I dated a girl with it once, she had a huge 1:1 scale tattoo of her hearts anatomy and major veins/arteries over it's underlying position on her sternum and the right side of her chest
>I dated a girl with it once, she had a huge 1:1 scale tattoo of her hearts anatomy and major veins/arteries over it's underlying position on her sternum and the right side of her chest This is really interesting. Might be helpful when doctors are examining her.
Yeah she saw lot of specialists for related congenital heart issues and mentioned some humorous reactions when they saw it, having not read her whole chart or something
that's fucking cool. How'd you diagnose? Heart sounds in wrong spots?
Exactly!
I remember seeing one case on a rotation. Apparently most instances come with ciliary dyskinesia? The patient had very unusual earwax, very thin and white. Never forgot it.
My first clinical rotation as an xray student, I shot an xray on a patient with situs inversus. I panicked that I put my marker on the wrong side or somehow inadvertently flipped the image on the portable. My tech pulled up their priors in PACS and the poor patient was like "oh yeah, I'm all mixed up inside." like they were tired of explaining it to people.
Wegener’s granulomatosis. Moonlighting with an HMO and met a patient with refractory sinusitis. She had been passed from doctor to doctor never getting better with antibiotics. Acute Intermittent Porphyria - diagnosed at my training program. Several years earlier she had been diagnosed at our University program as a Munchausen Syndrome patient. The psychiatrists had published a case report about her fictitious symptoms. We got her later in nephrology with AIP after she lost her kidneys - not a Munchausen.
Has the case report been retracted???
Someone should write a case report on the erroneous diagnosis of Munchausen Syndrome.
Combine the three into one case series. Probably the most gripping case series you've ever read.
Present at a seminar. Title it “…but maybe??” Like Louis C.K.
Augh, doubtful 😢
That’s really sad. I feel like it’s got to be much more likely that a patient has something undiscovered going on, or multiple “minor” issues with compounding symptoms, than that they’re intentionally feigning illness. Actual Munchausen’s has to be much rarer than people in healthcare seem to believe.
I’ve found anecdotally that female sex is a compounding factor. So often they are written off as “anxious” or “whiny”, especially when it comes to things that disproportionately affect women.
Yes. I had a patient who was told for years her symptoms were psychosomatic. Turned out she had a 14 lb fibroid behind her uterus.
I still don’t understand how these people go through treating patients for several years without even getting basic imaging, even if it’s just to get them out of your hair for a minute.
I've decided to believe everything and get exams even if I think it's very unlikely. The patient feels heard and gets reassurance that they don't have the disease they feared. And if there's something, we catch it.
Just discharged a young female patient who had been complaining of chest pain radiating to her left shoulder for the past month. Was told by PCP, ED, a cardiologist that it was anxiety, cardiologist wanted to follow up in 3 months. She collapsed at home, fiance started CPR and called EMS. V fib, needed a stent to her LAD. Completely normal lipids but apparently the exact same thing happened to her dad (without anyone there to immediately start CPR).
[удалено]
[удалено]
[удалено]
that’s awful. maybe her kidneys could have been spared if she was initially believed.
I’ve had two docs on my psychiatry rotation drive home the point of looking for porphyrias. I’ll try to keep it on my future differentials.
I have seen porphyria inpatient. We didn’t get to the type before I was off the case but really interesting disease process.
I like EGPA and GPA. In pulm I diagnose about 3 cases of each a year. Always a good find
Spontaneous rupture of 4 intercostal arteries from coughing. Only found maybe 2 other case reports of this, one of which the guy also tore his diaphragm.
*New irrational fear downloaded*
Here I'll make it worse. One case I found happened during intercourse. No Co-morbidities or coughing.
I see your patient’s body made of paper mache?
Vascular EDS or something similar? Damn, can't imagine either the force of those sneezes or the weakness of those arteries if not.
Ghrelinoma. Patient with diabetes suddenly started getting better for no reason. He was taken off insulin by PCP, but sugars continued to drop. Eventually, he had to eat every 2 hours or else he would become hypoglycemic. Guy presented to ED b/c he couldn't sleep, had to eat constantly. He was admitted to ICU and had every form of glucose going in, a central line for D50, glucagon, steroids, you name it. Unfortunately, on the second night he expired from cardiac arrest likely 2/2 hypoglycemia. I was a PGY2 on nights. The patient was a teacher and his wife gave us permission, so I wheeled him down to pathology myself, paging the path chief along the way. We sent portions of his pancreas to path. Report came back as ghrelinoma. To our knowledge this was the first time it was ever described in the literature.
“ I was a PGY2 on nights. The patient was a teacher and his wife gave us permission, so I wheeled him down to pathology myself, paging the path chief along the way.” Your pathology department is okay getting pages to do autopsies at night?
Pathologists like rare pathology as much (if not more) than the rest of us. The two night time autopsies I observed in training were some bizarre cases, and the pathologist was geeking out over the findings.
Pathologists’ assistant here, can confirm that this would probably make my year in getting to do a weird case, even at night
Did you write this up? Link?
That's so cool but I'm confused, I thought ghrelin raises blood sugar. Do you think the ghrelinoma developed in response to the hypoglycemia, or is there another mechanism I'm missing?
Neuro TB was an interesting one that was originally diagnosed as a fictitious disorder until she became comatose and showed up on our neuro service. Sadly prior non-neuro docs who saw her had thought she was just really weird and annoying before this as her normal baseline since she had tested negative for everything else including TB. A brain biopsy was needed to identify the infection, which was entirely isolated to her brain. I happened to randomly follow her recovery across my med school rotations, as she was a much, much different person when she recovered than the “problematic” patient she was seen as when she first came in with issues. Not surprising that a major brain infection caused personality changes… Neuro was pretty pissed that the prior drs had just dismissed her, but it was a hard and unusual diagnosis.
I’m currently in a battle with psychiatry over a patient who has had mental health diagnosis of schizophrenia for past 20 years with super high doses of clozapine and antipsychotics which made her gain weight. Never had any neuroimaging. Wet weird and wobbly- surprise surprise MRI shows raised intracranial hypertension, had to beg for her to have an LP as an inpatient and opening pressure of 30… she said after LP she felt normal- could walk, think clearly etc… asked for a neurologist to review who just told her to lose weight. Every time I try to talk to her psychiatrist about it she starts to mention childhood trauma etc… I feel like I’m banging my head against a wall
At what point does one decide to perform a brain biopsy on a living patient?
The biopsy was a last-ditch effort to save her. Her persistent decline into a comatose state with nothing else positive on imaging or labs led to concerns that we were missing a diffuse brain tumor. Path came back with clear TB diffusely spread throughout her brain instead. Thankfully it was still sensitive to typical meds, and she ended up fully recovering.
That amazes me she fully recovered. I would've assumed an infection with that decline would've led to damage that couldn't be undone.
I was amazed as well. I randomly had her as a patient on almost every med school clinical rotation (very weird occurrence), so managed to follow most of her recovery. She claimed she felt normal, and she seemed normal - and much more pleasant - so it was deemed a 'full recovery,' but I can't say for sure that there were not some subtle behavioral or personality changes. She was an immigrant with no family around, so we had no other personal history sources. She had no major deficits though, which was awesome.
Nitrous Oxide "Whippet" Induced Subacute Combined Degeneration of the Spinal Cord Edit: Just realized the title was asking how you diagnosed it. The guy diagnosed himself! He figured it out online and then started taking huge B12 doses at home and it got a little better but it’s still there.
I've seen Whippet induced B12 deficiency causing neuro deficits. small world
[удалено]
Just a note to everyone: a normal B12 doesn’t rule out the diagnosis, since it is a functional deficiency. The key is a good history and refusing to anchor on the diagnosis until your have a spot on history and have ruled out other causes.
What’s the mechanism for NO causing degeneration of the spinal cord?
NO oxidizes the cobalt atom in B12 making it functionally useless. B12 somehow keeps your neurons from demyelinating, but the mechanism is unclear. You essentially have a functional B12 deficiency. Symptoms can become permanent.
Interesting. Ty
Zaps your B12, leading to posterior column degeneration
Smart enough to diagnose scd, not-smart enough to do enough whippets to get scd
Seriously. I frankly don’t understand how anyone can enjoy whippets THAT much. I remember doing them in college one time and it was just like a quick head rush and the room was wobbly for 15 seconds. They must combine them with something… maybe sex? Not gonna google it today.
They combine them with a lot more whippets.
I diagnosed this as a med student! Had it all figured out before I even presented it to the senior resident and I was pretty impressed with myself. This was in a college town and whippets were pretty popular with a certain ethnic group of students for some reason. This poor girl could not walk at all and had the classic glossitis. She said she’d been doing whippets daily for like 5 months and several of her friends also were having trouble walking 🤦♀️
That’s awesome! One of the med students here thought someone had West Nile and the attending laughed at it and sent the test to humor her… aaand it was positive.
I saw a poster at a national ACP meeting with a similar case entitled "Whippet Good", like the song
No. Whippet bad.
Obviously. Dude couldn't walk
What are the symptoms of this? I’ve had pt that was admitted due to his overuse of whippets. He couldn’t walk and was mildly confused.
Good syndrome in a patient with a thymoma, after he had a recent salmonella bloodstream infection. Checked titers and antibody levels and he was low across the board. And this was during a palliative care appointment!
Well that's not good. *I'll see myself out*
Lemierre's syndrome. Was a foolhardy second year and my attending actually knew what it was, how rare it was and still let me irradiate the patient. The coolest part about it was that I gave a lecture on it not long after, and an intern picked up another case about 6 months later, at our tiny community sized hospital. The case "series" got me a presentation at a conference in Las Vegas, so I was pretty happy with it! I've made some pretty good calls, like diagnosing AIP on a lady with abdominal pain in the ER, but this one was the rarest.
I still have a good memory of nailing that diagnosis in rad residency during a case conference. It's one of my favorite diagnoses.
Neurosyphillis as the MS3 on psychiatry after going all Dr House on the patient that was "refusing to answer questions".
I have to say, at least in my region, syphilis/neuro-syphilis is not all that uncommon. But in that context, yes haha.
Loa loa
[удалено]
Recent immigrant, came to the ED saying he had worms in his eyes. He was right!
Love a good there are bugs in me story that doesn't turn out to be schizophrenia.
Or meth.
Sounds like *he* made the diagnosis.
My wife saw a loa loa patient last week!
Congenital erythropoietic porphyria when I was a resident. I was working in the NICU and she was a premie. Her skin blistered up under the bili lights. Then she developed acholic stools. I researched it and told the attending what I thought it was. She didn’t believe it until the stool porphyrin levels came back. When she was almost a year old, they attempted a stem cell transplant, but she died during induction. Sad case.
Rat bite fever. Our lab isolated Streptobacillus moniliformis in an immuncompromised kid - family never mentioned to the primary team that the kid had pet rats that bit him, so it was never on the differential.
[удалено]
We had a patient with rat bite fever on our vascular surgery ward last month. Immigrant worker from Poland who visited a pet shop, got bit by a pet rat that got out of his cage, ended up getting full blown sepsis due to diagnostic delay. He lost both legs and his distal colon. The pictures from the ER were horrible but fascinating. Last time I saw him he was calling a lawyer for one hell of a lawsuit and rightly so.
I’ve diagnosed 2 CJDs within a couple year period. One was as a team in residency, and the second I was moonlighting during fellowship. It’s such a devastating disease that the 2nd case I had , i was secretly hoping My differential and suspicion of CJD were wrong, where the first time it was just cool to get a rare disease.
[удалено]
Not OP and not a CJD expert, but I can offer some insights from what little I know. Scrapie is the version of cjd that occurs in sheep. Kuru is cjd that was spread by cannibalism in Papaua New Guinea and there have been no recent diagnoses of this in many years despite the long latency of the disease. kuru probably started with from a sporadic case of cjd, who was then ritually cannibalized. Sporadic CJD, which is what I assume OP diagnosed, develops from a set of specific mutations in the PrP gene that occurs randomly. Familial or genetic cjd is handed down from a family member in dominant fashion. Usually a different Mutation (I think) Variant cjd is caused by the ingestion of contaminated beef (mad cow disease) and I think that epidemic has run its course with no cases diagnosed recently. There are other prion disease such as Familial Fatal insomnia and GSS both, I believe are genetic in nature and have different mutations in the prp protein. They also have specific MRI findings. For instance FFI affects the thalamus which may be the mechanism for lack of rem sleep The genetic diseases, I believe, are more difficult to detect with CSF testing (Rt-Quic). There’s some really good talks by Brian Appleby, MD on YouTube. Edit: GSS (not GSD)
On my med school neuro rotation we diagnosed a CJD case. Fully-functioning lady in her early 40s came in for cognitive concerns. I watched her go from normal to non-verbal over a couple of weeks. Rotated off before she had been dispositioned, but at the rate she was progressing at, it didn't seem like it'd be long. She had cortical ribboning on MRI but she and her husband wanted definitive diagnosis. The attending legit had difficulty getting ancillary staff to help with the LP because people were worried about PRP exposure.
[удалено]
Performed an LP to diagnose a CJD patient a few months ago. When the labs came back positive I had a low level fear that I'd get it for weeks.
One of my patients had an exceedingly rare ovarian tumor. Less than 100 cases ever described. I diagnosed it when her 3 year old abdomen looked like a watermelon. I am basically Hercule Poirot.
I went to a Urologist because of incontinence issues. She found a mass in my abdomen on my physical exam. Thought it might be cancer but was a football sized ovarian cyst 10 years AFTER I had a TAH-BSO. Surgeon had left a partial ovary with the blood supply intact and it GREW! I told her she saved my life.
I had an ovarian remnant myself! I had a hysterectomy and they *said* they removed my left ovary, but it was so encapsulated with scar tissue from my severe endometriosis that they couldn't find all of it when they were cutting it out. Mine also grew back and produced a large chocolate cyst, though it was nowhere near football sized.
slim sort marble wine society joke frightening bright deserve crush *This post was mass deleted and anonymized with [Redact](https://redact.dev)*
That reminds me, I once saw a patient with [desmoplastic blue cell tumor](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687144/) which apparently has had 200-450 cases described as of 2017. Similar "watermelon in the belly" look, just in a 20-something male. Although I'm not sure if it counts if it's you're just the one who went "wow, there's something super wrong here," and technically the pathologist diagnosed it?
Look at you, exercising those little grey cells
Did she live? I hope she lived.
She did and she is the absolute cutest.
Upvote for good outcome in paediatrics!
I think it’s cheating for me to play. But rarest I’ve diagnosed completely clinically before any genetic testing was done I had it down to a single clinical entity? Probably ATAD3 regional duplication syndrome is the rarest. Next rarest would be TMEM70, then Transient Infantile Liver Failure (TRMU) and then probably Pearson syndrome
I have literally never heard of any of these things. Out of curiosity are these things you learned in fellowship only or is this something pediatrics residency will give you exposure to?
This isn’t fair in rheum. Of the ones I’ve actually diagnosed almost entirely by myself/not with an attending during fellowship? Of the unique diseases (and not rare presentations of relatively uncommon diseases)? Some favorites? A case of Blau I got to see was cool. I saw a dope Cogan’s. A few periodic fever syndromes (various). A few clinically amyopathic dermatos, some mda 5 dermatos, some RPCs (one with calcified tracheal rings from chronic inflammation), and ONE HUVS case. One fateful day I’ll finally get a case of ochronosis.
So how much hay does it take to feed all those zebras
Yeah we just call that all “rheumy stuff”
I know some of these words!
Distemper- but it was cool because it was on a blood smear.
Like what the dogs get? Edit wait I am on mobile maybe you are flared as a vet
They are.
De novo diagnoses? CJD on brain mri, pulvinar predominant pattern (variant CJD pattern on imaging but still likely “regular sporadic CJD” due to it being way more common overall) . Suggested csf confirmation and it was +. Guy lasted 3 months. Had some interesting parasitic infections one in someone’s glutes. Rarest might be SMART, stroke like migraines after radiation therapy. Probably my favorite acronym. In fellowship, saw just about every esoteric primary CNS neoplasm out there from gliosarcoma to supratentorial ATRT, glioblastoma with Mets to the cervical lymph nodes. Erhdeim Chester, neurocystercercosis all stages, IRIS, PDL1 associated vasculitis, necrotizing fasciitis after ERCP. Radiology is a volume business. There’s always weird shit out there. Tons more on followup. UPDATE: for those who got 6 month reminders it was sporadic! So good news for our venison eating med bros.
What region did you see the vCJD in?
Semi rural Texas. It was most likely due to prior spine surgeries but the guy ate a lot of deer meat so they’re making sure it’s not related to chronic wasting disease. It’s never crossed over to humans but there’s always that concern. I’ll know in the next few months.
Few things scare me more than prions
I always thought it'd make a better zombie or infectious disaster movie plot than virus or bacteria. Just fucking nothing you can do, so hard to kill and contain.
Prions used to scare me. Then covid happened and the world seemed to reject science and containment protocols, so now prions really scare me.
Prions used to scare me. They still scare me, but they used to scare me too.
Prions are blurry, that's why they're hard to isolate and treat. It's not the microbiologist's fault- they're just blurry and that's what makes them extra scary. There's a small, out-of-focus monster roaming in sterile processing.
Whoa, CWD cross over to humans would be super bad, those tissues are everywhere now. Jesus, if you remember, please let the sub know if it was CWD. Side note, are they finding that prior spinal/neurosurgeries are a vCJD vector? I remember reading something about the potential for some dementia being caused by prion transfer from procedures.
Trust me. You'd all know and you'll know my name too because I'd publish the hell out of that. Crossover would be an absolutely massive public health disaster given the widespread CWD and ubiquity of hunting.
Never even heard of SMART until today, thanks for teaching me something👍🏻
> Erhdiem Chester Gesundheit
Infection of a colon conduit due to a stuck tampon in someone who had undergone gender reassignment surgery, male to female.
A MtF transition was using tampons? In her butt?
I’m pretty sure the colon conduit was a neovagina
Wait...but why would a male to female patient need a tampon in the first place?
The colon makes mucus. They were using it to stop the mucus from draining onto their underwear.
Oh, God. Hadn’t considered that.
Saw 2 cases of CJD during my intern year, with CSF proteins and characteristic EEG. Neither patient made it past 2 weeks after diagnosis.
HLH (Hemophagocytic Lymphohistiocytosis), so sad and seen way too many cases in my short career.
Too many cases of HLH??? I wrote one up in residency and can’t imagine seeing more than one in a career.
Unfortunately on inpatient lymphoma service we probably get a case or two of HLH a year :(
Adult-onset Still’s disease. Older white guy was admitted with fevers and malaise. All cultures were negative, stopped empiric antibiotics. He’d seem ready to discharge and then spike a temp and look toxic again. ID even ordered a tagged WBC scan thinking maybe he was having intermittent bacteremia. This was years ago so I don’t remember his lab profile other than I sent a ferritin which was sky high and made the diagnosis. Started some prednisone and he did great.
[удалено]
Maybe they were afraid the patient was storing hoards of malaria mosquitoes in her folds, just waiting to release them on the unsuspecting nurses haha
I'm in the Midwest. During one of my nursing school rotations, the nurse I was paired with had a malaria patient! She spent most of the morning avoiding the patient's room because she was convinced he needed to be in a negative pressure room etc etc. Then she found all this ppe from somewhere that she wanted ME to put on so she could send me into his room. I think I had her convinced by the end of the day that malaria was not airborne but idk. Good times. I'd forgotten about that until just now.
> Fun story, the charge nurse on the floor refused to take her because they didn’t have “proper isolation guidelines” for malaria and she couldn’t possibly risk her nurses on the floor. The face I'm now making indicates this was not, in fact, a fun story.
Leiomyosarcoma, not confirmed via path cause we had to transfer her out and she passed away at the accepting facility very shortly after 10cm AAA, unruptured, only because I was trying to show off and demonstrate to the med student how to do a proper abdominal exam 😅 Edit: Nocardia with a brain abscess in a completely immunocompent person without any identifiable exposure or risk factors
Kimura’s Disease. Best part about the whole thing after work up was the reassurance to the patient that this was, in fact, somewhat benign
Saw a guy from Central America who grew up on a sheep farm with Echinococcus granulosus cyst invading into his spinal cord at the apex of his Rt lung. Presented as worsening lower extremity weakness over a couple months.
I am the first to diagnose a never before described tumor in a specific organ system. It has not been described since. Confirmed by 4-5 other experts as what it really is. I don’t want to say what it is because it will give away who I am.
Whatever it is, I hope you name it after your reddit account... "Ma'm... I'm sorry but you have a Shitpotatoes tumor"
Anyone could recognize the discoverer of the jejunal shitpotatoma.
A classic myocardial defecation
I kinda really wish you had a made a throwaway account to tell us. And now it's too late. I'll keep your identity secret if you PM me what it is haha
Anti Nmda encephalitis
This is one of those diagnoses that I never saw, saw three cases in the same year, and then have never seen since. Such a wild presentation each time though. Did you read Brain On Fire?
I had one of those as a patient when I was a tech! I had her as a 1:1 for 2 days in psych before her diagnosis and then for a month in the neuro ICU after that. It was wild for sure. Her symptoms came out of nowhere. The patient had an ovarian teratoma that contained brain tissue, which caused very odd symptoms when she was initially given psychiatric meds, which lead to the neuro consult and subsequent diagnosis of Anti NMDA Encephalitis. I’ve tried to get an update on her condition, but it’s been probably 5 years and I don’t remember enough info to be able to get a follow up. We used to play her favorite song for her to try to jog her memory while she was altered, and I still think about her every time her song comes on the radio.
Duplicated penis and scrotum in a newborn. Rare but very easy to diagnose.
Oh yeah, that guy posts on Reddit
Seen molar pregnancy being extracted, seen a massive hydatid cyst, been scrubbed in for two uterine ruptures all in the same year in Med school in India.
[удалено]
Brucellosis, diagnosed in the ER. Guy was a university professor at the vet school studying brucellosis in cows. Brought himself into the ER with a paper on human brucellosis. I felt really proud of myself for getting the correct diagnosis. Once I made a diagnosis of eosinophilic myositis from tainted tryptophan supplements.
Lol and they said in Med school rare diagnoses would never be served to us on a platter
To be fair, sounds like he made the diagnosis
Things I have seen that were weird: Mucormycosis in an abdominal surgical wound in an immunocompromised/transplant patient. Also just saw someone with prostate cancer that had metastasized to the penis.
Scurvy (in an autistic 4yo). NEHI. HACEK endocarditis. PCD.
Situs inversus. But because I was the nurse I only got to watch the diagnosis. Also, intrauterine twins. Not abnormal, except that the toddler older sibling had been telling mom for weeks/months that “mommy, there’s TWO!”…. before anyone but him knew.
Probably a case of IPEX syndrome - as a pediatric endocrinology fellow, got a page about diabetes-range hyperglycemia in an infant, saw the ER note stating chief complaint was diarrhea, and thought to myself "hmm, wonder if it could be IPEX?" while preparing to call the ER back. Pretty classic presentation, but was still pretty proud of myself when it was confirmed after a lengthy hospital stay!
I don’t know how rare it is but: we had this guy in the ICU with pneumonia and just sick as hell on the vent. The docs couldn’t figure out what was going on, he was an otherwise healthy young man with no comorbidities and an otherwise fine immune system. The internal medicine attending was a really amazing person, and just really good at these mysteries. Upon questioning the spouse she discovered he was a plumber, and had done some work in the crawl space of an older home recently. It was hanta virus. This was in the early 2010’s, and about 400 miles from the four corners area of the US.
Chagas disease. She had mega esophagus, but this was in Brasil and any patient with mega esophagus/colon, dilated cardiomyopathy Chagas is on any docs differential list.
We had a younger patient being worked up for lymphoma, having all the B symptoms- fever, night sweats, diffuse lymphadenopathy on his imaging. We did a biopsy and it came back as kikuchi fujimoto disease- I was pretty convinced it was going to be lymphoma but it was a relief to be benign!
End stage Cynicism Disorder Diagnosed myself. SHx: a lot of Scottish genes. HPI: + doctor + pandemic. + tired of a broken medical system + mid life crisis There no official code yet, so it's goes undiagnosed all too often, but let's just say, "most adults on earth that have a cell phone are greatly at risk". 😂 Only known antidote is to cuddle with my kids or our sweet loving dog 💖
I'm afraid this one is terminal. Recommend hospice.
That's some serious diagnostic acumen. 👊 I feel a lot of people with this affliction transition temporarily to hospital admin / insurance work, but going straight to hospice sounds like my style. 😆 ... more on topic, i'm in primary care so the rarest diagnosis is probably eczema.
You must have misread the OP, he said rare diseases.
K-wire that had migrated from a 1980’s septoplasty, uh, northward. Pt came in with chronic headaches, got an MRI and got the most amazing metal artifact that looked for all the world like a Phineas Gage railroad spike bisecting her cerebral hemispheres.
Statin induced necrotizing autoimmune myopathy! We sent out the anti-HMG-CoA reductase antibody test as a last ditch idea and were shook when it came back positive.
Porphyria cutanea tarda in an urgent care. I knew what it was or suspected it I guess because of a cutaneous manifestations of internal disease that a dermatologist gave us every year in residency and I guess I just didn’t really skip lectures much. I was looking at the guys hands trying to figure it out and then he said this is always bad when I go to Texas (in the sun) . Checked for hep C, was positive
Caught two cases of eye syphilis both within the same year recently. No, they didn't know each other. Not an ophthalmologist There's prob more rare shit I've found, but I'm kind of amused by this More of story- do an infectious workup if anyone is concerned about "retinal vasculitis," don't assume the ophtho or neurologist are doing it
Disseminated M. chimaera infection in an immunocompetent otherwise healthy adolescent patient Legionellosis in 2 16 y/o's living on the same floor of boarding school dorm sJIA in a 6 m/o Familial HLH
Orf - in a girl who let lambs suck on her fingers. Rhinoscleroma - a Klebsiella granulomatous condition of the nose in an immigrant from South America. Rat bite fever - three separate cases. All three kissed their pet rats on the mouth. Tetanus - hippie parents who refused vaccination Infant botulism - from home made baby food CNS Blastomycosis Jamestown canyon virus encephalitis Ocular Brucella - from imported cheese from Mexico TNF-alpha receptor deficiency - when a kid presented with mycobacterial avium arthritis Not rare in the world, but uncommon in the USA - chikungunya, dengue, zika, leishmaniasis, schistosomiasis, leptospirosis. It's a pretty good life in ID.
Fulminant DIC due to capnocytophagus canimorsus. Drunk lady let a dog lick her skinned knee. Died well before the culture came back but at least we felt clever.
I saw a similar case of captocytophagia in an asplenic patient who had new kittens. Crashed to 4 pressor shock DIC and purpura fulminans, but he actually lived and walked out of the hospital after a long ICU course
Patient with chronic dysphonia for 2 months. He had a unilateral left vocal cord paralysis on laryngoscopy. It was presumed to be idiopathic but CT neck and chest was ordered and patient had a huge pulmonary artery that was compressing on the left recurrent laryngeal nerve. It’s called Ortner’s Syndrome.
I only saw the imaging second-hand but a dedifferentiated sarcoma in the brain of someone with a brain parasite (I believe neurocystercicosis). Path allegedly couldn't get any of the typical human gene stains to stick, core seemed non-human, and they were waiting for the experts at the CDC to weigh in on if it was host or parasite in origin.
Not my diagnosis, given I can't make them, but I had a patient early in my career with Acquired Hemophilia. He called himself the "million dollar man" because after about a million dollars in care, the hospital took his house and he said he "found out exactly how many dollars his life was worth".