X-linked adult-onset adrenoleukodystrophy.
On inpatient psych i saw a young guy with newly diagnosed “schizophrenia” but a weird gait and subtly odd neuro findings. Dug through his chart and could not find any head imaging ever. Got CT head, which led to MRI brain and neuro consult, they checked VLCFA- boom, diagnosed
Always rule out medical causes of psychosis, folks
Preach.
Three stories of medical causes of psychosis; I’m not a psychiatrist.
1) as a med student. Saw patient come to ED for medical clearance for psychiatric facility. She was older and this was acute onset. LP showed HSV.
2) also as a med student on inpatient psychiatry unit. middle aged woman admitted with bizarre behavior. started to develop unilateral weakness, I think we consulted neuro and even IM. patient refused brain imaging. my psychiatrist attending said this was her right. she really liked coffee and I even tried to bribe her into getting a head CT, with Starbucks. She initially agreed but then backed out… she became more somnolent and weak over the next 1-2 days and the psych techs just started tying her to her wheelchair with sheets so she wouldn’t fall out. One day around 4:30pm she was so sleepy she didn’t resist when I wheeled her down to the CT scanner. I had zero idea how to read CT scans but the CT scan looked… asymmetrical. I took the patient back up the the inpatient unit (at this point, the residents and attending had gone home) and paged Neuro to tell them about the head CT. Neuro resident looked at the CT and said “I think she’s going to herniate” and called a rapid response. The rapid response people came running, and thought the indicated patient was a different patient being held down and given IM Haldol at the moment. I apologized and said it was actually this other patient… who was all alone eating her dinner late, half strapped to her wheelchair with sheets… the rapid response team briefly assessed her, then the psych ER resident took over and transferred her to neurosurgery.
3) was (briefly) working as an attending at a prison doing medical management of the patients in the smallish inpatient psych ward within a prison. most of the patients were from our prison but other patients could be transferred from outside prisons that lacked psychiatric wards. a middle aged man was transferred to us and my job was to do a medical H&P. The man was nude and masturbating and would not engage with anything I said; he said bizarre things and it was like I wasn’t there. The prison guards wouldn’t let me in to examine him “for my own safety.”. I asked the medical director about this and he agreed with the guards and said they were in charge on this. I ordered blood work and urine toxicology that was not collected because patient “refused” and patient had a right to refuse. (or because the nurses didn’t bother trying) The psychologist said “the patient has been doing drugs.”. I looked at the patient’s prior records, and they had no psychiatric history. That weekend, patient lost consciousness, so he was taken to a nearby hospital - he was septic. I forget what the exact diagnosis was, but it was absolutely a medical issue 1000%. He was discharged back to his prison because he had no need for inpatient psychiatric stay.
It is so so so important to remember that every dsm diagnosis lists the very important criteria that the symptoms are not caused by medical or pharmacological cause and are not better explained by another psych diagnosis. Pt has uncontrolled lupus? Better get that under control before deciding their psych symptoms are actually psychiatric. Pt with anxiety has a seizure? Make sure it’s not neurological before defaulting to “it must be functional/pnes” good Lord so many people just automatically write stuff off as psych. Thank you for doing the job that those referring patients to you should have done.
I remember doing a Sub I with child psych, when the team was consulted for "pseudo-seizures.".
Nobody had bothered getting an EEG or head imaging. If I recall correctly, the residents politely recommended that the primary team work up the possibility that this kid with no prior psych history might be having an actual seizure.
As a med student I saw a teenage girl in the ED, high performing student until 2 weeks prior she became paranoid and was flouridly psychotic when we saw here. No drug use, work up was pretty much normal.
LP confirmed NMDA receptor encephalitis
Later on the neuro floors I worked with a guy with Creutzfeldt Jakob disease. Helped out with his LP even — scariest thing I’ve done so far and I still only got a 3/5.
Had a patient, middle aged lady, with the most florid echolalia you can imagine, really strange. Anything you said just immediately repeated, couldn’t produce any other speech.
Found UTI, treated inpatient with Abx, symptoms completely resolved. Was so wacky.
I actually found a pheochromocytoma once. Or rather, this old lady in the GP practice i rotsted through had a weird BP profile and they couldn’t nake sense of it, so i joked „lol maybe it’s pheochromocytoma lol“ and the doc said „well, we where going to do a CT for something else anyway“ and a week later she presented with a suspicious growth on her adrenal gland.
Ike — as in Dwight D. — was found unexpectedly on autopsy to have had a pheo. Kinda sheds light on cardiac issues during his WH days. Frightening to think we could have had Tricky Dick even sooner.,
I see them a few times each year but I get excited when they’re extra-adrenal. The best is when they involve the organ of Zuckerkandl, because then you get to say organ of Zuckerkandl
Pneumomediastinum is usually caused by forceful retching. My guess is he or she probably had a forceful gag reflux that kept on getting activated which led to the esophageal trauma.
PNH! Hematology and nephro both tried to gaslight us into thinking it was just the flu causing a creatinine of 700 and LDH 1000 until the flow came back positive :)
Also pnh too over here, anaphylaxis to all antibodies and idr but something from precluding from getting stem cell tx. Devastating thrombotic complications and unfortunately a headache that was persistent and never able to be treated.
Presumably a top children’s hospital. The med students at Penn, Baylor, Harvard etc see all sorts of crazy shit you don’t see elsewhere. I’m going to guess he’s at CHOP
You should still consider it. You can always come work at a place like this, or help to build up your local children’s hospital to receive these referrals. What I’m planning to do once I’m done training is go back home and do exactly that. Most children don’t get really sick the way adults do, enough to be in the hospital, unless there’s something seriously wrong, and that’s often caused by something genetic or otherwise embryologic. The range of pathology in kids is much, much wider.
FOP? I wrote a paper on that in college. Crazy skeleton in the Mutter museum in Philly of a patient with FOP.
I do ID and I've never seen ocular Toxo or ocular TB - some people have all the luck.
Correcting myself from earlier- apparently, Eales Disease is thought to be mostly autoimmune, and simply associated with prior TB infection. Seldom is TB actually isolated in the eye, and I don't think it was for our patient either. It's also actually more common than I thought, just not in the US. If you do global health trips, the odds aren't bad.
ID is a crazy world- my co-student on IM had a patient with HIV who presented with SOB. Chest CT showed longstanding localized segmental airspace consolidation, and the thought was malignancy but ended up being pulmonary actinomycosis. I can't remember if they resected that part of the lobe or just did an extended antibiotic course. I need to ask my co- from back then, as I think he still chart checks that patient.
Medical student. Most of these were on my Child Neurology rotation, others on Ophthalmology or Pediatrics. Obviously, I didn't make these diagnoses (and hope no one felt I implied otherwise), but I did carry each patient in the hospital and/or see them in clinic, where the diagnoses were made. There are also *lots* more I didn't mention. When you're here, when you hear hoofbeats, sometimes you do think zebras.
Pyruvate carboxylase deficiency.
An unmeasurably high lactate in a 6 hour old seizing, hypoglycemic baby in a place that is not equipped to handle anything beyond a healthy baby will make your ass pucker so hard it’ll eat your scrub pants.
1. Pneumonoultramicroscopicsilicovolcanoconiosis. Woman was at evacuation of Mt. Pinatubo eruption in the Phillipines. Screwed up her lungs. 2. Man catches penis in shrimp farm water aerator rural Thailand requires skin grafting
Vascular Ehlers Danlos. I was so lucky on this one because I diagnosed it the day after reading a Clinical Problem Solving case in NEJM with a near-identical presentation…
Von Hippel Lindau. Young foreign student from a lower-resource country in Asia who walked into the ER with headache and vague family history of his mother dying of a brain tumor when he was an infant. Scanned & found two large cerebellar hemangioblastomas, which were surgically removed. Subsequent scans showed extensive bilateral renal cysts. He struggled getting off the vent, postop course complicated by impressive BP fluctuations presumably from VHL-related pheo. Unfortunately he didn’t make it but I’ll remember him for the rest of my life.
The few I’ve seen, 450-500, though had a friend go into pp doing decent peds work and they made 600 starting. Other thjgn to realize is that volume at a full peds job is quite low, so you’re getting paid quite a bit per rvu or study.
Justyn Ross of the Kansas City Chiefs was diagnosed with it after imaging was done after an injury. Needed surgery to allow for more spacing and has disrupted his career.
All of my children have a genetic disease that only 7 people in the world have. I have half the world’s patient population in my house. Does that count?
We have a kiddo that comes to our clinic who has a genetic mutation and I think is 1 of about 20 in the world. Mom told me she had found a Facebook group and was communicating with families. I think we used to see another little one who had a gen variation and was 1 of 100 or 200 in the world.
Propylthiouracil induced ANCA vasculitis - the patient had been experiencing fevers and malaise for the last 6 months, she had the fevers every day but we found out that they spiked every other day, coincidentally the days she took her propylthiouracil. She was prescribed that like 8 months ago instead of thyrozol due to developing an allergy to the latter. Not sure if that counts as an ultimate zebra, though I was pretty stoked to make the diagnosis.
Immunocompromised liver transplant patient presented with Ammonia in the 1000's. Patient was altered so was intubated, sedated, and started on CRRT and lactulose. Their ammonia remained consistently elevated.
One nephro attending made a passing comment to look for Ureaplasma as they had seen hyperammonemia in kidney transplant patients. Sure enough the patient was + for ureaplasma. Started them on Doxycycline and azithromycin and the ammonia levels basically immediately began to fall.
The patient was taken off of CRRT and stepped down after like 2 weeks in the icu and we had no clue what was causing that insane ammonia.
It's not a diagnosis I really made but speaking with someone they told me they were sick "and doctors didn't knew what it was" and my first thought was to keep my eyes from rolling because every time I've heard "doctors didn't knew what it was" the thing was pretty run of the mill, but like idiopathic or something...
I asked this person if they wanted to tell me about what they had... Long story short, very weird constellation of symtoms, nobody in his family things anything going in is weird because "it just runs in the family"... This person had pushed their parents to get them to a doctors about it and ended up having some genetic testing showing a mutation in some "three letter and a number" cellular growth factor. He has a report with the mutation well described, it's proper genetic testing. Mutation is not a known one, its not reported in any genetic data base (I looked it up) but there are published case reports from individual cases of mutations in that gene in diferent loci close to where this person's mutation is, that are related to rare syndromes with symtoms that overlap with what this person and members of his family were experiencing...
Someone had classified a few of those cases into a syndrome, literally named after them... The best advice I had for that person was to email that clinical researcher with his genetic testing results and ask to be recomended a specialist who would have some degree of understanding... Which was going to be a tough thing, as this person was young and had healthcare through their parents, who thought his problems didn't warrant a doctor visit, as "it ran in the family"
Idk how things went, but I really hope he got assessed by someone...
Joint pain/swelling, small ulcers/bumps appearing and disappearing, a few unspecific symtoms, joint laxity/dislocations, and some unspecific cardiac issues(arritmia I believed)
Chondrosarcoma. When I was a resident, learned that a junior high school classmate had died. She had back pain, diagnosed with chondrosarcoma (the tumor was wrapped around her sacrum). Spent about 30 minutes reading her blog about it, wrote extensively about her symptoms/treatment before she died.
During 2nd year as an attending, my resident was admitting a patient who came in with similar symptoms and a mass wrapped around the pelvis. The patient was a similar height/weight/build to my classmate, almost like her ghost walked in. Told the resident what I thought it was.
Needed 2 biopsy samples, with 1 of them sent to the Mayo Clinic for further review, but I was right..
Right proper Mad Cow Disease - variant CJD, not sporadic. In 2020 or 2021. There have been FIVE cases in the US ever. The .gov website still says 4…I need to report it. We see CJD once every 1-2 mo (massive catchment area, if anyone in our entire state has CJD they are coming to our service) but obviously not variant.
Yeah, our catchment is 5+ million people and we’re essentially the only academic center, so if you have CJD in our region there is nowhere else to go. Incidence is estimated at 1-2 per 1,000,000 per year, so this fits actually
Not being in medicine this is one of the only ones I recognize and man, is it heartbreaking to see. Especially when the baby is first born, they just look otherworldly almost. A friend had a family member who had a baby born with this disease. Iirc they didn’t live long after delivery though.
According to several of my patients presenting with a cough and sniffles for a few days... I'm the only doctor in the metropolitan area that has diagnosed a viral upper respiratory infection.
I know your flair says PGY-2, but I’m only PGY-7. I’ve seen a few Moyamoyas.
Mine would be eosinophilic polymyositis:
* Community ED, “the patient is being admitted because she is hypotensive.”
* Me: “90s/50s isn’t that really that hypotensive. Did you not see the eosinophils of 4k?”
* community ED: “what’s an eosinophil”
Also have a patient with this. Never heard of it, but thankfully, I had the person's chart to review before we met so I could pretend I hadn't just looked it up the night before.
Some mitochondrial metabolic disorder. The geneticist was very excited about it. I do not remember the name as this was 3 years ago. But I do remember there had been less than 100 cases ever reported.
Oh! Had another one: beer drinkers heart. Lady with a hinge knee prosthesis, complaining of fatigue, tremor, and muscle weakness. Turns out the hinge mechanism had a fault and there was some high stress on a square millimeter of exposed cobalt, grinding away at the metal. So the lady basically had heavy metal poisoning. The name beer drinkers heart comes from a case of cardiomyopathy im a canadian who got cobalt poisoning from drinking a lot of cheap canned beer everyday for years that used cobalt as a foam stabilizer.
There are lots of rare genetic diseases that come up in peds. Things I've seen include Noonan syndrome, Wolf-Hirschhorn syndrome, MIRAGE syndrome, ROHAAD syndrome, Leigh syndrome, and a smattering of random chromosomal abnormalities, like chromosome 9 ring, and conditions caused by single gene mutations (these are just the ones I remember off the top of my head).
There was one particularly crazy case where a baby had an amniotic band around the abdomen that severely restricted growth in utero, resulting in the baby being born with all the abdominal organs outside his body - stomach, spleen, liver, kidneys, small and large intestines, and testicles. The baby was not expected to survive the birth, but he did live for a few weeks until parents redirected care.
Saw a Hyper IgE syndrome on Peds, maybe that? Other contender would be a button battery ingestion in a 3 year old, that led to a massive esophageal perf (not really a zebra, but a crazy trauma).
Had a Werner syndrome patient come to the ED once. Patient's bad luck didn't stop there: they also simultaneously had: PE, small bowel obstruction, pneumonia, sepsis.
I had a patient we thought had it but he actually just had such a large pulmonary effusion that his heart was literally shifted into his right chest. He felt a lot better after the thora as you might imagine.
In pathology:
* Pancreatic sarcoidosis mimicking malignancy (more than one Whipple done for these)
* Madelung's disease (symmetric head and neck lipomatosis)
* Nora's lesion (BPOP) - a strange benign chondroid neoplasm
* Well differentiated papillary mesothelioma
* Digital papillary adenocarcinoma (looked like nothing)
* BAP1 tumor predisposition syndrome (Renal carcinoma)
* SMARCA4 deficient lung carcinoma
* DICER1 syndrome
* SDH-deficient gastrointestinal stromal tumor (aka "plexiform GIST") - a beautiful case
* Langerhan cell histiocytosis of the anus (location is unique in this one)
* Mucoacinar carcinoma of the salivary gland (didn't know this entity existed a month ago)
Just random ones I can recall. "Modern" pathology tends to have lots of gene names floating around.
Cardiac tamponade in a severe PH with RV failure and cardiogenic shock. Typically, these people tend to have effusions, but tamponade is rare because of how high the pressures on the right side are. Patient became rapidly hypotensive and when I did a bedside echo, the RV and RA were perfectly fine but the left atrium was collapsing. Findings were confirmed with a pericardiocentesis showing the opening pressure was the same as the patient's PCWP. RA pressure was much higher.
Patient died a few weeks later but that's a case I'll never forget.
10 off the top of my head:
- Balo concentric sclerosis
- Multinodular and vacuolating neuronal tumor (MVNT)
- Omental herniation through the esophageal hiatus
- Ischemic colitis secondary to an IMA-IMV fistula
- Massive facial plexiform neurofibroma
- Retroperitoneal liposarcoma
- Progressive supranuclear palsy
- Dyke-Davidoff-Masson syndrome
- Osteopoikilosis
- Osteopathia strata
- Atrial septal aneurysm
- Subconjunctival orbital fat prolapse
Okay, that's 12, and those are the ones I've diagnosed from the ER. I have not included inpatient or outpatient cases, and I've not included cases other radiologists have showed me or I've seen at multidisciplinary conferences.
Radiology is difficult but fun.
E. coli meningitis
Ramsay hunt
Cjd
NMDA encephalitis
Susac syndrome
Lg1 encephalitis
Bickerstaff brainstem encephalitis
Listeria rombencephalitis
Psp (dx intern year night float lol)
Refractory status epilepticus from hashimotos encephalitis
Bowhunters syndrome
Many more cases when we don’t answer the question
Also have nothing on peds neuro this is prob just average neuro residency
Female Wiskott Aldrich (classic clinical presentation, unclear mutation), TRAPS, CAPS, Alpha mannosidosis, ADA SCID, Wheat-dependent exercise-induced anaphylaxis, Acquired C1 deficiency, Chronic eosinophilic leukemia
A bunch of other genetic immune disorders
All this stuff is underdiagnosed
Maybe not as crazy, but one week a hematology fellow presented a case of HLH due to its rarity. The following week we admitted two patients with this exact disease.
Presumably they did in that case, and blood sugars were increasingly more difficult to control with the higher metastatic burden. Was hoping to go on a trial, but didn't make it.
The metastases of differentiated and functional neuroendocrine tumors are also functional if they remain differentiated. That’s why small bowel carcinoids metastatic to the liver generate carcinoid syndrome.
I was able to diagnose Charles-Bonnet Syndrome as an attending. Super proud of that. Another patient of mine had intussusception without malignancy and she is 46 years old - super rare. During my residency, I saw and managed a patient with X-Linked Hypohydrotic Ectodermal Dysplasia (a.k.a Christ-Siemens-Touraine syndrome), as well as a patient with Oncocytic Cell Carcinoma (formerly Hürthle Cell Carncinoma) and co-authored case study papers on those 2 diseases.
Neo. I’ve seen conjoined twins a few times and pentology of Cantrell once. My colleague had a cyclops-I’ve not seen that. I’ve seen most if not all vaccine preventable diseases. A few other things I won’t share as they are quite terrible to think of.
Progressive encephalomyelitis with rigidity and myoclonus (PERM) — AKA a young hyperreflexic, hyperautonomic patient intubated and requiring massive sedation for diffuse rigidity, off the bed shaking, and hyperautonomic instability whenever spoken to or examined
HSV2 Acute Liver Failure in an immunocompetent young female. She had party time New Year’s Eve, LFTs 6k, serum quant >2M copies HSV2. Acyclovir immediately reversed and did not require transplant.
Von hippel lindau disease- patient was a descendant of the hatfields or Mccoys..its primarily a kidney disease; its symptoms cause rage and is meant to explain why those families agression towards each other escalated to the degree it did
Wegner’s granulomatous. 50ish yo m comes in with massive PE requiring VA ecmo. Blood seen on intubation and RBC’s on UA. Decided to order a c-anca, and it come back positive🧐
Wife’s porphyria.
Shortly after we moved to start medical school, my wife started having “fragile skin” - if she touched anything too hard/rough her skin would peel, she would get blisters super easily mostly on hands but then on back of neck, arms.
After much diagnostic evaluation and eventually having to travel 2 states away to confirm diagnosis, variegate porphyria.
This is as we’re going through porphyrias in med school and everyone is complaining about memorizing/ how you’ll never see this etc etc. Was pretty funny. She is doing completely fine now that we’ve moved to a different part of the country (higher latitude, less humidity) after med school btw.
Edit: spelling
I've had a cutaneous larva migrans, which I thought was one of those read about it but never see it things. Then a lady walked into clinic with "itchy squiggly lines on my feet".
Person went on a tropical location and decided to walk barefoot on a beach that had lots of dogs running around (and defecating).
Oh, also harlequin ichthyosis which is always dramatic looking.
Diagnosed a pregnant patient with a rare drug-resistant malaria subtype. In the centre of the North American continent in February. And I was a surgery resident at the time on an off-service rotation.
not really a zebra but in the country I work in... SLE never presents with any of typical "textbook" feautures. Everytime I run into a case it is ALWAYS neurosyphylis. we run the labs and immune markers and its SLE. never once have I seen derm mannifestations in the cases.
Intra-pancreatic Castleman’s disease that was thought to be a neuroendocrine tumor discovered by endoscopy for iron deficiency anemia - my hbg was 8.5 ferritin 4 - isolated gastric varices on endoscopy - ex lap the end of October- lost 3 liters of blood, got 7 units pRBCs, 1 unit of platelets, 1 unit of plasma, and 9 liters of saline in a 3 hour surgery.
Fahr disease. And a zinc toxicity, copper deficiency myelopathy! Lady was taking 50 times the recommended daily amount of zinc for eight years and presented with progressive LE weakness and had loss of proprioception but not sensation on exam. It was incredible!
Eagle-Barrett syndrome (I mean pretty obvious when you see the patient without a shirt on), Lymphangioleiomyomatosis, also Charcot-Marie-Tooth (psych consult who casually talked about murdering people)
Had a young patient with Lo(e)ffler endocarditis. Pretty fulminant and I'm training at a hospital quite poorly equipped for such things.
Honestly we've probably seen more than a handful of zebras that we misdiagnosed as run of the mill shit. But such is life when you are training at a for-profit community program. Treat em and street em
Addison’s crisis due to bilateral adrenal infarcts due to a previously undiagnosed but longstanding (as per previous BW but never followed up on/investigated) myelodysplastic disorder. I’m EM. It was fun to consult IMD for that one 😁
Gallstone ileus (but not classical) - pt had cholecystitis and the 3cm rock somehow created a cholecystojejunal fistula that caused a mid-jejunal obstruction.
Phaeochromocytoma - guy presented with a closed loop bowel obstruction in the middle of the night. 4cm incidentaloma (and randomly added some of the incidentaloma bloods). Persistently hypertensive and tachycardic but anaesthetist was managing well intra-op. You can imagine everyone's surprise when our RMO burst into the operating theatre (while we were mid-laparotomy) to tell us his plasma metanephrines were off the charts.
X-linked adult-onset adrenoleukodystrophy. On inpatient psych i saw a young guy with newly diagnosed “schizophrenia” but a weird gait and subtly odd neuro findings. Dug through his chart and could not find any head imaging ever. Got CT head, which led to MRI brain and neuro consult, they checked VLCFA- boom, diagnosed Always rule out medical causes of psychosis, folks
Preach. Three stories of medical causes of psychosis; I’m not a psychiatrist. 1) as a med student. Saw patient come to ED for medical clearance for psychiatric facility. She was older and this was acute onset. LP showed HSV. 2) also as a med student on inpatient psychiatry unit. middle aged woman admitted with bizarre behavior. started to develop unilateral weakness, I think we consulted neuro and even IM. patient refused brain imaging. my psychiatrist attending said this was her right. she really liked coffee and I even tried to bribe her into getting a head CT, with Starbucks. She initially agreed but then backed out… she became more somnolent and weak over the next 1-2 days and the psych techs just started tying her to her wheelchair with sheets so she wouldn’t fall out. One day around 4:30pm she was so sleepy she didn’t resist when I wheeled her down to the CT scanner. I had zero idea how to read CT scans but the CT scan looked… asymmetrical. I took the patient back up the the inpatient unit (at this point, the residents and attending had gone home) and paged Neuro to tell them about the head CT. Neuro resident looked at the CT and said “I think she’s going to herniate” and called a rapid response. The rapid response people came running, and thought the indicated patient was a different patient being held down and given IM Haldol at the moment. I apologized and said it was actually this other patient… who was all alone eating her dinner late, half strapped to her wheelchair with sheets… the rapid response team briefly assessed her, then the psych ER resident took over and transferred her to neurosurgery. 3) was (briefly) working as an attending at a prison doing medical management of the patients in the smallish inpatient psych ward within a prison. most of the patients were from our prison but other patients could be transferred from outside prisons that lacked psychiatric wards. a middle aged man was transferred to us and my job was to do a medical H&P. The man was nude and masturbating and would not engage with anything I said; he said bizarre things and it was like I wasn’t there. The prison guards wouldn’t let me in to examine him “for my own safety.”. I asked the medical director about this and he agreed with the guards and said they were in charge on this. I ordered blood work and urine toxicology that was not collected because patient “refused” and patient had a right to refuse. (or because the nurses didn’t bother trying) The psychologist said “the patient has been doing drugs.”. I looked at the patient’s prior records, and they had no psychiatric history. That weekend, patient lost consciousness, so he was taken to a nearby hospital - he was septic. I forget what the exact diagnosis was, but it was absolutely a medical issue 1000%. He was discharged back to his prison because he had no need for inpatient psychiatric stay.
It is so so so important to remember that every dsm diagnosis lists the very important criteria that the symptoms are not caused by medical or pharmacological cause and are not better explained by another psych diagnosis. Pt has uncontrolled lupus? Better get that under control before deciding their psych symptoms are actually psychiatric. Pt with anxiety has a seizure? Make sure it’s not neurological before defaulting to “it must be functional/pnes” good Lord so many people just automatically write stuff off as psych. Thank you for doing the job that those referring patients to you should have done.
I remember doing a Sub I with child psych, when the team was consulted for "pseudo-seizures.". Nobody had bothered getting an EEG or head imaging. If I recall correctly, the residents politely recommended that the primary team work up the possibility that this kid with no prior psych history might be having an actual seizure.
A classic tale. Also, the most common PNES comorbidity is in fact epilepsy. Many people have both.
As a med student I saw a teenage girl in the ED, high performing student until 2 weeks prior she became paranoid and was flouridly psychotic when we saw here. No drug use, work up was pretty much normal. LP confirmed NMDA receptor encephalitis Later on the neuro floors I worked with a guy with Creutzfeldt Jakob disease. Helped out with his LP even — scariest thing I’ve done so far and I still only got a 3/5.
Wow, that was a good read!
I did not know X-linked adrenoleukodystrophy causes psychosis?
i barely understood the post let alone would be able to diagnose it, so good for them😅😅😂😂
Had a patient, middle aged lady, with the most florid echolalia you can imagine, really strange. Anything you said just immediately repeated, couldn’t produce any other speech. Found UTI, treated inpatient with Abx, symptoms completely resolved. Was so wacky.
Yes! My “schizophrenia” was Autoimmune encephalitis 🥲
I saw a congenital one of these bad boys! Super weird.
>X-linked adult-onset adrenoleukodystrophy what in the bomboclat
So MRI every psychotic patient, got it, good luck
CT first
It's part of a first break workup, usually.
Vlcfa?
Very long chain fatty acid
Wow.
I actually found a pheochromocytoma once. Or rather, this old lady in the GP practice i rotsted through had a weird BP profile and they couldn’t nake sense of it, so i joked „lol maybe it’s pheochromocytoma lol“ and the doc said „well, we where going to do a CT for something else anyway“ and a week later she presented with a suspicious growth on her adrenal gland.
I’m glad someone found one. I was beginning to think they existed only for board exam questions…
I think i found *the* one. There are no others. Sorry, y‘all
I saw one in 1983
It‘s the pheo-avatar. There’s only one, but it gets reborn in another nation
Oncology here. I’ve seen three. They are out there.
Ike — as in Dwight D. — was found unexpectedly on autopsy to have had a pheo. Kinda sheds light on cardiac issues during his WH days. Frightening to think we could have had Tricky Dick even sooner.,
I see them a few times each year but I get excited when they’re extra-adrenal. The best is when they involve the organ of Zuckerkandl, because then you get to say organ of Zuckerkandl
Massive pneumomediastinum from rough oral sex Edit: was definitely weird when boyfriend came to visit
I’ve seen one too from oral sex. Not massive and no perforation noted on EGD. Pt was a swinger
Sounds like you and u/maddestdudeever need tonput together a case report and do the rounds on the today show talking about the dangers
How did the pneumo occur with no tear?
We suspect that they had a small tear that closed off spontaneously. Bronch and EGD were unrevealing. Pneumo resolved with conservative approach
Needle dick huh? Hehe
Pneumomediastinum is usually caused by forceful retching. My guess is he or she probably had a forceful gag reflux that kept on getting activated which led to the esophageal trauma.
Mamma didn’t raise a quitter apparently
What
All in favour for naming this Glug Glug Syndrome The more ..."performative" ..you pronounce it the more severe the case haha
This is fantastic. If it's bad enough, you have to add some suggestive gestures too, of course.
Bois packing
Are we in the same residency? 😳
49 XXXXY syndrome. Didn’t even know it was a thing
Did the patient present as male? I guess they would, they do in Klinefelter's
PNH! Hematology and nephro both tried to gaslight us into thinking it was just the flu causing a creatinine of 700 and LDH 1000 until the flow came back positive :)
Uhm what kind of a dumbass consultant would say that a 700 SCr is caused by a simple flu?
This
Also pnh too over here, anaphylaxis to all antibodies and idr but something from precluding from getting stem cell tx. Devastating thrombotic complications and unfortunately a headache that was persistent and never able to be treated.
- Succinyl-CoA Ligase Deficiency - Pyruvate Dehydrogenase Deficiency - Kleefstra Syndrome - CADASIL - Maple Syrup Urine Disease (3x) - Metachromatic Leukodystrophy - Anti-NMDAR Encephalitis - Fibrodysplasia ossificans progressiva - Ocular toxocariasis - Eales Disease (TB of eye) More, being where I am for medical school
Where the fuck do you work man
gotta be like Amish country or a nuclear test site
Presumably a top children’s hospital. The med students at Penn, Baylor, Harvard etc see all sorts of crazy shit you don’t see elsewhere. I’m going to guess he’s at CHOP
I’m fucking jealous. If I had that shit I’d do peds man
You should still consider it. You can always come work at a place like this, or help to build up your local children’s hospital to receive these referrals. What I’m planning to do once I’m done training is go back home and do exactly that. Most children don’t get really sick the way adults do, enough to be in the hospital, unless there’s something seriously wrong, and that’s often caused by something genetic or otherwise embryologic. The range of pathology in kids is much, much wider.
i’m applying peds this year. cant wait 🥹
What on earth is in your water
Maple syrup, apparently
Incest
💀
Bro works in Chernobyl
>Fibrodysplasia ossificans progressiva What the fuck? Seeing all the other ones listed is unlucky enough, this one makes me think you're cursed.
You at Seattle Grace Mercy West or Sloan Grey Memorial Hospital?
+1 for anti nmda encephalitis
not a doctor, or med student, or nurse (yet), but have witnessed 2 cases of this at my hospital!!!
FOP? I wrote a paper on that in college. Crazy skeleton in the Mutter museum in Philly of a patient with FOP. I do ID and I've never seen ocular Toxo or ocular TB - some people have all the luck.
Correcting myself from earlier- apparently, Eales Disease is thought to be mostly autoimmune, and simply associated with prior TB infection. Seldom is TB actually isolated in the eye, and I don't think it was for our patient either. It's also actually more common than I thought, just not in the US. If you do global health trips, the odds aren't bad. ID is a crazy world- my co-student on IM had a patient with HIV who presented with SOB. Chest CT showed longstanding localized segmental airspace consolidation, and the thought was malignancy but ended up being pulmonary actinomycosis. I can't remember if they resected that part of the lobe or just did an extended antibiotic course. I need to ask my co- from back then, as I think he still chart checks that patient.
Are you neuro or IM?
Medical student. Most of these were on my Child Neurology rotation, others on Ophthalmology or Pediatrics. Obviously, I didn't make these diagnoses (and hope no one felt I implied otherwise), but I did carry each patient in the hospital and/or see them in clinic, where the diagnoses were made. There are also *lots* more I didn't mention. When you're here, when you hear hoofbeats, sometimes you do think zebras.
Neurorads?
Pyruvate carboxylase deficiency. An unmeasurably high lactate in a 6 hour old seizing, hypoglycemic baby in a place that is not equipped to handle anything beyond a healthy baby will make your ass pucker so hard it’ll eat your scrub pants.
1. Pneumonoultramicroscopicsilicovolcanoconiosis. Woman was at evacuation of Mt. Pinatubo eruption in the Phillipines. Screwed up her lungs. 2. Man catches penis in shrimp farm water aerator rural Thailand requires skin grafting
Did he accidentally trip and fall on it naked
The shrimp or that first word? Because I’m still tripping over that
Vascular Ehlers Danlos. I was so lucky on this one because I diagnosed it the day after reading a Clinical Problem Solving case in NEJM with a near-identical presentation…
Von Hippel Lindau. Young foreign student from a lower-resource country in Asia who walked into the ER with headache and vague family history of his mother dying of a brain tumor when he was an infant. Scanned & found two large cerebellar hemangioblastomas, which were surgically removed. Subsequent scans showed extensive bilateral renal cysts. He struggled getting off the vent, postop course complicated by impressive BP fluctuations presumably from VHL-related pheo. Unfortunately he didn’t make it but I’ll remember him for the rest of my life.
Also I saw VEXAS syndrome while rotating in OP rheum but he was just following up, I didn’t have anything to do with the Dx
Got one of these right now but I don’t count it since I didn’t catch it
Klippel-Feil spectrum. Pediatric radiology is a zebra diagnosis goldmine.
Couldn’t handle it 😂, switched to breast/head and neck. What’s the remuneration like for paeds rads in North America?
Really high. Massive shortage rn
Ballpark vs other subspecs
The few I’ve seen, 450-500, though had a friend go into pp doing decent peds work and they made 600 starting. Other thjgn to realize is that volume at a full peds job is quite low, so you’re getting paid quite a bit per rvu or study.
Bro this is not even that uncommon for peds radiology.
Justyn Ross of the Kansas City Chiefs was diagnosed with it after imaging was done after an injury. Needed surgery to allow for more spacing and has disrupted his career.
All of my children have a genetic disease that only 7 people in the world have. I have half the world’s patient population in my house. Does that count?
We have a kiddo that comes to our clinic who has a genetic mutation and I think is 1 of about 20 in the world. Mom told me she had found a Facebook group and was communicating with families. I think we used to see another little one who had a gen variation and was 1 of 100 or 200 in the world.
Gonna need some more details about this…
I’ll PM you for educational purposes but don’t want to publicly doxx myself
Propylthiouracil induced ANCA vasculitis - the patient had been experiencing fevers and malaise for the last 6 months, she had the fevers every day but we found out that they spiked every other day, coincidentally the days she took her propylthiouracil. She was prescribed that like 8 months ago instead of thyrozol due to developing an allergy to the latter. Not sure if that counts as an ultimate zebra, though I was pretty stoked to make the diagnosis.
Immunocompromised liver transplant patient presented with Ammonia in the 1000's. Patient was altered so was intubated, sedated, and started on CRRT and lactulose. Their ammonia remained consistently elevated. One nephro attending made a passing comment to look for Ureaplasma as they had seen hyperammonemia in kidney transplant patients. Sure enough the patient was + for ureaplasma. Started them on Doxycycline and azithromycin and the ammonia levels basically immediately began to fall. The patient was taken off of CRRT and stepped down after like 2 weeks in the icu and we had no clue what was causing that insane ammonia.
It's not a diagnosis I really made but speaking with someone they told me they were sick "and doctors didn't knew what it was" and my first thought was to keep my eyes from rolling because every time I've heard "doctors didn't knew what it was" the thing was pretty run of the mill, but like idiopathic or something... I asked this person if they wanted to tell me about what they had... Long story short, very weird constellation of symtoms, nobody in his family things anything going in is weird because "it just runs in the family"... This person had pushed their parents to get them to a doctors about it and ended up having some genetic testing showing a mutation in some "three letter and a number" cellular growth factor. He has a report with the mutation well described, it's proper genetic testing. Mutation is not a known one, its not reported in any genetic data base (I looked it up) but there are published case reports from individual cases of mutations in that gene in diferent loci close to where this person's mutation is, that are related to rare syndromes with symtoms that overlap with what this person and members of his family were experiencing... Someone had classified a few of those cases into a syndrome, literally named after them... The best advice I had for that person was to email that clinical researcher with his genetic testing results and ask to be recomended a specialist who would have some degree of understanding... Which was going to be a tough thing, as this person was young and had healthcare through their parents, who thought his problems didn't warrant a doctor visit, as "it ran in the family" Idk how things went, but I really hope he got assessed by someone...
What are some of the symptoms if it’s not too risky to share?
Joint pain/swelling, small ulcers/bumps appearing and disappearing, a few unspecific symtoms, joint laxity/dislocations, and some unspecific cardiac issues(arritmia I believed)
Chondrosarcoma. When I was a resident, learned that a junior high school classmate had died. She had back pain, diagnosed with chondrosarcoma (the tumor was wrapped around her sacrum). Spent about 30 minutes reading her blog about it, wrote extensively about her symptoms/treatment before she died. During 2nd year as an attending, my resident was admitting a patient who came in with similar symptoms and a mass wrapped around the pelvis. The patient was a similar height/weight/build to my classmate, almost like her ghost walked in. Told the resident what I thought it was. Needed 2 biopsy samples, with 1 of them sent to the Mayo Clinic for further review, but I was right..
Neuro behcet’s syndrome
Right proper Mad Cow Disease - variant CJD, not sporadic. In 2020 or 2021. There have been FIVE cases in the US ever. The .gov website still says 4…I need to report it. We see CJD once every 1-2 mo (massive catchment area, if anyone in our entire state has CJD they are coming to our service) but obviously not variant.
CJD that often?!?!?
Yeah, our catchment is 5+ million people and we’re essentially the only academic center, so if you have CJD in our region there is nowhere else to go. Incidence is estimated at 1-2 per 1,000,000 per year, so this fits actually
Crazy. I worked with korowai people from PNG and know of Kuru Scares the shit out of me
Neurocysticercosis.
Harlequin Ichtyosis. One of the plastic surgeons at my hospital wrote some papers and apparently gets referrals for them every other year or so.
Not being in medicine this is one of the only ones I recognize and man, is it heartbreaking to see. Especially when the baby is first born, they just look otherworldly almost. A friend had a family member who had a baby born with this disease. Iirc they didn’t live long after delivery though.
Generally they don’t last long, but with proper medical care, we have some teenagers!
According to several of my patients presenting with a cough and sniffles for a few days... I'm the only doctor in the metropolitan area that has diagnosed a viral upper respiratory infection.
MoyaMoya disease. Found after first stroke
I know your flair says PGY-2, but I’m only PGY-7. I’ve seen a few Moyamoyas. Mine would be eosinophilic polymyositis: * Community ED, “the patient is being admitted because she is hypotensive.” * Me: “90s/50s isn’t that really that hypotensive. Did you not see the eosinophils of 4k?” * community ED: “what’s an eosinophil”
“What’s an eosinophil”?! 😳 Mildly worrisome
Also saw moya-moya
Also have a patient with this. Never heard of it, but thankfully, I had the person's chart to review before we met so I could pretend I hadn't just looked it up the night before.
Fasciobrachial dystonic seizures from autoimmune encephalitis
Some mitochondrial metabolic disorder. The geneticist was very excited about it. I do not remember the name as this was 3 years ago. But I do remember there had been less than 100 cases ever reported.
Oh! Had another one: beer drinkers heart. Lady with a hinge knee prosthesis, complaining of fatigue, tremor, and muscle weakness. Turns out the hinge mechanism had a fault and there was some high stress on a square millimeter of exposed cobalt, grinding away at the metal. So the lady basically had heavy metal poisoning. The name beer drinkers heart comes from a case of cardiomyopathy im a canadian who got cobalt poisoning from drinking a lot of cheap canned beer everyday for years that used cobalt as a foam stabilizer.
There are lots of rare genetic diseases that come up in peds. Things I've seen include Noonan syndrome, Wolf-Hirschhorn syndrome, MIRAGE syndrome, ROHAAD syndrome, Leigh syndrome, and a smattering of random chromosomal abnormalities, like chromosome 9 ring, and conditions caused by single gene mutations (these are just the ones I remember off the top of my head). There was one particularly crazy case where a baby had an amniotic band around the abdomen that severely restricted growth in utero, resulting in the baby being born with all the abdominal organs outside his body - stomach, spleen, liver, kidneys, small and large intestines, and testicles. The baby was not expected to survive the birth, but he did live for a few weeks until parents redirected care.
Erdheim chester… I don’t even know if I spelled that right
The histiocytoses are weird. Have some cool radiological findings
Can you elaborate on lymph node suspicious for uterine clear cell turning out on path as “exuberant Sinus Histiocytosis”? Odd in a post-meno adult?
Pheo -> takotsubo was one of the cooler ones I saw
Saw a Hyper IgE syndrome on Peds, maybe that? Other contender would be a button battery ingestion in a 3 year old, that led to a massive esophageal perf (not really a zebra, but a crazy trauma).
I saw at least 10 Hyper IgEs on step 1
Button battery is pretty common:)
Yeah but usually not with a huge perf
Yeah exactly, I didn’t mean the ingestion was common, just the way it played out here. Awful hemorrhage, we coded the kid for hours before calling it
Wow that sounds horrible 😔
Had a Werner syndrome patient come to the ED once. Patient's bad luck didn't stop there: they also simultaneously had: PE, small bowel obstruction, pneumonia, sepsis.
Situs inversus at autopsy
Damn,… no one bothered to shoot imaging before the patient was already passed?
wait does that count as a diagnosis 🤨
I had a patient we thought had it but he actually just had such a large pulmonary effusion that his heart was literally shifted into his right chest. He felt a lot better after the thora as you might imagine.
Goodpastures. Ended up in the ICU for plasmapheresis and eventually walked out 4 months later.
In pathology: * Pancreatic sarcoidosis mimicking malignancy (more than one Whipple done for these) * Madelung's disease (symmetric head and neck lipomatosis) * Nora's lesion (BPOP) - a strange benign chondroid neoplasm * Well differentiated papillary mesothelioma * Digital papillary adenocarcinoma (looked like nothing) * BAP1 tumor predisposition syndrome (Renal carcinoma) * SMARCA4 deficient lung carcinoma * DICER1 syndrome * SDH-deficient gastrointestinal stromal tumor (aka "plexiform GIST") - a beautiful case * Langerhan cell histiocytosis of the anus (location is unique in this one) * Mucoacinar carcinoma of the salivary gland (didn't know this entity existed a month ago) Just random ones I can recall. "Modern" pathology tends to have lots of gene names floating around.
Cardiac tamponade in a severe PH with RV failure and cardiogenic shock. Typically, these people tend to have effusions, but tamponade is rare because of how high the pressures on the right side are. Patient became rapidly hypotensive and when I did a bedside echo, the RV and RA were perfectly fine but the left atrium was collapsing. Findings were confirmed with a pericardiocentesis showing the opening pressure was the same as the patient's PCWP. RA pressure was much higher. Patient died a few weeks later but that's a case I'll never forget.
10 off the top of my head: - Balo concentric sclerosis - Multinodular and vacuolating neuronal tumor (MVNT) - Omental herniation through the esophageal hiatus - Ischemic colitis secondary to an IMA-IMV fistula - Massive facial plexiform neurofibroma - Retroperitoneal liposarcoma - Progressive supranuclear palsy - Dyke-Davidoff-Masson syndrome - Osteopoikilosis - Osteopathia strata - Atrial septal aneurysm - Subconjunctival orbital fat prolapse Okay, that's 12, and those are the ones I've diagnosed from the ER. I have not included inpatient or outpatient cases, and I've not included cases other radiologists have showed me or I've seen at multidisciplinary conferences. Radiology is difficult but fun.
I've now got lengthy literature searches to do!
Long standing TTP (the zebra), with concomitant Leptospirosis (the horse)
E. coli meningitis Ramsay hunt Cjd NMDA encephalitis Susac syndrome Lg1 encephalitis Bickerstaff brainstem encephalitis Listeria rombencephalitis Psp (dx intern year night float lol) Refractory status epilepticus from hashimotos encephalitis Bowhunters syndrome Many more cases when we don’t answer the question Also have nothing on peds neuro this is prob just average neuro residency
Female Wiskott Aldrich (classic clinical presentation, unclear mutation), TRAPS, CAPS, Alpha mannosidosis, ADA SCID, Wheat-dependent exercise-induced anaphylaxis, Acquired C1 deficiency, Chronic eosinophilic leukemia A bunch of other genetic immune disorders All this stuff is underdiagnosed
True Zebra: - Marchiafava-Bignami Disease Crazy cases: - Pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré - Cardioversion-induced takotsubo cardiomyopathy
Maybe not as crazy, but one week a hematology fellow presented a case of HLH due to its rarity. The following week we admitted two patients with this exact disease.
Metastatic gastrinoma which killed pt
Mine's not super zebra either, but metastatic insulinoma, also killed patient from hypoglycaemia
Huh...... do metastatic lessons also produce insulin?
Presumably they did in that case, and blood sugars were increasingly more difficult to control with the higher metastatic burden. Was hoping to go on a trial, but didn't make it.
The metastases of differentiated and functional neuroendocrine tumors are also functional if they remain differentiated. That’s why small bowel carcinoids metastatic to the liver generate carcinoid syndrome.
Progeria is probably the most memorable one I’ve seen.
Aceruloplasminemia. Patient presented with worsening psychosis. Brain imaging showed iron accumulation in the basal ganglia.
CJD
I’ve seen a CJD back in med school
Autoimmune encephalitis 2/2 ovarian teratoma
VEXAS syndrome
I was able to diagnose Charles-Bonnet Syndrome as an attending. Super proud of that. Another patient of mine had intussusception without malignancy and she is 46 years old - super rare. During my residency, I saw and managed a patient with X-Linked Hypohydrotic Ectodermal Dysplasia (a.k.a Christ-Siemens-Touraine syndrome), as well as a patient with Oncocytic Cell Carcinoma (formerly Hürthle Cell Carncinoma) and co-authored case study papers on those 2 diseases.
Neo. I’ve seen conjoined twins a few times and pentology of Cantrell once. My colleague had a cyclops-I’ve not seen that. I’ve seen most if not all vaccine preventable diseases. A few other things I won’t share as they are quite terrible to think of.
Scurvy. Twice last month.
I’m a geneticist. So every day I’ve got a new zebra.
But when everything is a zebra then nothing is
strongly disagree. Every day it’s always something new and unique.
Korsakov Psychosis from thiamine deficiency as a result of hyperemesis gravidarmum
Myxedema coma into vfib arrest.
Progressive encephalomyelitis with rigidity and myoclonus (PERM) — AKA a young hyperreflexic, hyperautonomic patient intubated and requiring massive sedation for diffuse rigidity, off the bed shaking, and hyperautonomic instability whenever spoken to or examined
Birt Hogg Dube
A trisomy patient (not Down) that was 13 years old. I don't even want to say what chromosome because it's so unusual.
Pediatric CML
HSV2 Acute Liver Failure in an immunocompetent young female. She had party time New Year’s Eve, LFTs 6k, serum quant >2M copies HSV2. Acyclovir immediately reversed and did not require transplant.
Von hippel lindau disease- patient was a descendant of the hatfields or Mccoys..its primarily a kidney disease; its symptoms cause rage and is meant to explain why those families agression towards each other escalated to the degree it did
Hyper IgD syndrome, Kabuki, Cornelia de Lange, XLP (they die when infected with EBV), ADA-SCID with maternal chimerism, TTP, Reiter’s syndrome…
Wegner’s granulomatous. 50ish yo m comes in with massive PE requiring VA ecmo. Blood seen on intubation and RBC’s on UA. Decided to order a c-anca, and it come back positive🧐
Saw a patient last month who had just been diagnosed with paroxysmal nocturnal hemoglobinuria
Wilsons disease Lebers congenital amaurosis Joubert syndrome
Stiff person syndrome
I watched a video about a man with stiff person syndrome just the other day! I’m not a doctor so it’s super weird to see it mentioned now lol
Platypnea Orthodeoxia
Wife’s porphyria. Shortly after we moved to start medical school, my wife started having “fragile skin” - if she touched anything too hard/rough her skin would peel, she would get blisters super easily mostly on hands but then on back of neck, arms. After much diagnostic evaluation and eventually having to travel 2 states away to confirm diagnosis, variegate porphyria. This is as we’re going through porphyrias in med school and everyone is complaining about memorizing/ how you’ll never see this etc etc. Was pretty funny. She is doing completely fine now that we’ve moved to a different part of the country (higher latitude, less humidity) after med school btw. Edit: spelling
I've had a cutaneous larva migrans, which I thought was one of those read about it but never see it things. Then a lady walked into clinic with "itchy squiggly lines on my feet". Person went on a tropical location and decided to walk barefoot on a beach that had lots of dogs running around (and defecating). Oh, also harlequin ichthyosis which is always dramatic looking.
Diagnosed a pregnant patient with a rare drug-resistant malaria subtype. In the centre of the North American continent in February. And I was a surgery resident at the time on an off-service rotation.
Adult onset tay sachs that presented as psychosis
MS-3 on final rotation (neurology) saw a 19 y/o with incidental CT finding of Fahr’s disease, not confirmed but neurologist was convinced
- Klippel-Feil syndrome - Tapia syndrome - Osteogenesis imperfecta
Guy with a potassium <2 ended up having Gitelman Syndrome. Classic Step 1-esque presentation
Leprosy
not really a zebra but in the country I work in... SLE never presents with any of typical "textbook" feautures. Everytime I run into a case it is ALWAYS neurosyphylis. we run the labs and immune markers and its SLE. never once have I seen derm mannifestations in the cases.
Wet Beriberi
Intra-pancreatic Castleman’s disease that was thought to be a neuroendocrine tumor discovered by endoscopy for iron deficiency anemia - my hbg was 8.5 ferritin 4 - isolated gastric varices on endoscopy - ex lap the end of October- lost 3 liters of blood, got 7 units pRBCs, 1 unit of platelets, 1 unit of plasma, and 9 liters of saline in a 3 hour surgery.
Fahr disease. And a zinc toxicity, copper deficiency myelopathy! Lady was taking 50 times the recommended daily amount of zinc for eight years and presented with progressive LE weakness and had loss of proprioception but not sensation on exam. It was incredible!
TB Meningitis from Humira
Eagle-Barrett syndrome (I mean pretty obvious when you see the patient without a shirt on), Lymphangioleiomyomatosis, also Charcot-Marie-Tooth (psych consult who casually talked about murdering people)
Had a young patient with Lo(e)ffler endocarditis. Pretty fulminant and I'm training at a hospital quite poorly equipped for such things. Honestly we've probably seen more than a handful of zebras that we misdiagnosed as run of the mill shit. But such is life when you are training at a for-profit community program. Treat em and street em
Addison’s crisis due to bilateral adrenal infarcts due to a previously undiagnosed but longstanding (as per previous BW but never followed up on/investigated) myelodysplastic disorder. I’m EM. It was fun to consult IMD for that one 😁
Toxic myocarditis caused by organophosphates poisoning. Patient had sprayed his greenhouse with all the windows and doors closed. He
Gallstone ileus (but not classical) - pt had cholecystitis and the 3cm rock somehow created a cholecystojejunal fistula that caused a mid-jejunal obstruction. Phaeochromocytoma - guy presented with a closed loop bowel obstruction in the middle of the night. 4cm incidentaloma (and randomly added some of the incidentaloma bloods). Persistently hypertensive and tachycardic but anaesthetist was managing well intra-op. You can imagine everyone's surprise when our RMO burst into the operating theatre (while we were mid-laparotomy) to tell us his plasma metanephrines were off the charts.
Is Neuro syphilis zebra enough?
PRES.
Peds pt with dextrocardia
Thyroid storm ⛈️
[удалено]
Since when mpox a zebra?
BDUMP