Doctors Share The Strangest Diagnosis They've Ever Made.

99.9 times out of 100, it may be what it looks like. This piece is about the times when it wasn't.

These stories are from an AskReddit thread. Link on the last page.

1. That's why you study *everything*.

The emergency doctor referred a guy to me who had a platelet count of 2. The guy looked bloody sick, abdominal pain, rash, feverish, diaphoretic, a bit confused and drowsy too.


Talked to my boss who said to give him prednisolone and he'd see him tomorrow, but I was convinced this guy had a really rare condition called TTP (Thrombotic Thrombocytopenic Purpura). Basically, it causes random tiny blood clots all over your body.

So I called the major hospital in my area and sent him to their ICU for a procedure called plasma exchange. I ordered a test to prove the condition, still have a paper copy of the result because it's the best diagnosis I've ever made. It helped save his life!


2. Urine luck.

We had a strange case a few years ago. An otherwise healthy, 40-year-old migrant worker from Central America started coughing up blood intermittently. Everything suggested tuberculosis: history, chest x-ray looked like tuberculosis, illness script looked like tuberculosis... but his tests for it were all negative.


I decided to test his urine on a whim to rule out pulmonary-renal pathologies. Ding, ding, ding! Blood. Lots of blood. The patient never noticed it, and his kidney function was superb, so this was a tricky diagnosis. Turns out he had granulomatosis with polyangiitis. Basically, this rare disease randomly cuts off blood flow to organs. Im glad we caught it before it caused irrevocable damage to his organs.


3. Ticking time bomb.

Patient came in with an itchy rash that would not go away for weeks and swelling of the mouth and tongue. She had "hives" all over her body and the only thing that had helped was repeated steroids. The patient was a mid 40s female who worked with dogs, so we assumed that she had a new allergy to pet dandruff, fragrance in a shampoo, flea medicine, something.


We discharged her home with an appointment for the dermatologist to do a biopsy of the lesions.

Later that day, she turns back up in the Emergency Department with swollen lips, increased rash, and trouble breathing. She started having these problems 15 minutes after eating a roast beef sandwich. Luckily, someone on the team remembered that she works with dogs. Otherwise she might have been in a lot of trouble. (continued...)

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They asked if she'd had any recent tick bites. Sure enough, she had been bitten by a tick a few weeks ago and identified a picture of a Lone Star Tick. Turns out she had developed an allergy to red meat after a bite from that tick.


This allergy is called alpha-galactosidase allergy and is a reaction to a carbohydrate carried on the outside of cells (think like the carbohydrates on red blood cells for ABO blood type) by all other mammals except humans and monkeys. The tick had bitten one of these and kept some of the protein in its digestive system, and then after biting her, her body developed antibodies to the carbohydrate causing her to have a new allergy to meat.


4. Smell a rat.

We had a young girl come in with a rash on the bottom of her feet. She was also having headaches and joint pains. We spent close to an hour interviewing the girl and the mother. Her history was essentially negative.

Finally, as a last ditch effort to figure out what was wrong, I pulled out the weird questions you ask in med school. I asked if they had any unusual pets, as we had already ruled out normal pets. They said actually they did just return a pet rat for biting her. They thought that this wasn't really relevant. Bam! Rat bite fever.



5. Inside job.

I am in internal medicine. Mid 40's female patient of mine has an appointment to discuss vaginal bleeding after intercourse. She has had a hysterectomy and so had no periods. She was, of course, concerned about some sort of a cancerous process, especially since there was no pain or discomfort when she noticed the bleeding.

Full work-up, she's perfectly healthy. We have a mystery! Once she is cleared, I ask about her husband. I tell her to have him pleasure himself and report back to me. Lo and behold, he had blood in his ejaculate.

It's actually not that unusual. But in RARE cases, it can be a sign of underlying prostate cancer. In this case, we did eventually diagnose prostate cancer in this upper 40's male. He had his surgery, and is doing well today.


My father was in medicine and he used to talk about the elation when he would diagnose something that other doctors missed. That feeling was short-lived, replaced by that feeling of "Oh no! when you realize your patient has a life-threatening illness. It's an odd profession we're in.


6. Cat's meow.

I treated a 6-month-old baby not getting bigger and dropping off the growth charts. Baby wouldnt move and cry all day long. I couldnt figure it out. I was making preparations to transfer baby to the university hospital for admission when one of the clinic nurses commented that the baby's cry sounded like a cat.

Ding, a bell went off in my head. (continued...)

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Crie du chat syndrome or "cats cry syndrome." Very rare. I looked it up and the baby had high probability of having it.

I referred her to genetics and they confirmed it. The attending doctor called me and marvelled at my clinical skills. I chuckled and told him the nurse diagnosed it.


Good news - the baby had a small deletion of the 5th chromosome and managed to stay somewhat healthy and functional.


7. Amateur diagnosis.

We had a 59-year-old male come in with lower leg swelling. Within three days he becomes confused, febrile and stiff. We put him in the ICU thinking meningitis, so we got some cultures and started antibiotics. Two days later the cultures were still negative and he wasn't improving. His wife then says this whole event seems similar to the patients mom. She had Cretzfeld-Jacob disease and passed from it.


It's a 1 in a million (literally) diagnosis and our tests are still coming back for it. Its often described as the human version of Mad Cow Disease. Poor guy.


8. Mercifully rare.

A baby was born without a nose and with non-functioning eyes. The child was diagnosed with Bosma Syndrome. I saw her a few months later and she was doing fine. Children with Bosma Syndrome grow up without a nose or eyes, but have no cognitive disabilities.



9. Great wits and madness.

My first rotation as a medical student was psychiatry. I was really nervous and made a flashcard for each psych condition and a list of diagnoses to consider. One of the patients being discussed on rounds was clinically psychotic (think: "CIA is after me!") but was otherwise put together. He was really into doing art and was very, very religious.


I looked at my flash card for psychosis and casually mentioned that we should consider temporal lobe epilepsy, which presents with religiosity and exaggerated artistic ability. An EEG showed that he had it.


10. Sick for no reason.

When I was an intern, we had a 22-year-old man with persistent abdominal pain. All studies negative. His symptoms were unexplained. His mother was constantly at his bedside and his medical history, which was extensive, according to his mom, included multiple hospital stays with no definitive diagnosis. That struck me as extremely odd. (continued...)

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I noticed that he would frequently take ill after meals, which his mother brought from outside the hospital. It eventually became clear that he was a victim of Munchausen by Proxy.


His mother was deliberately making him ill and then healing him back to help. Its a form of histrionic, attention-seeking behavior. I'd had a patient with Munchausen when I was in medical school (she was injecting her own feces into her IV), so I was particularly tuned in. Both cases were very sad.


11. All in your head.

An elderly lady came into my practice asking if there was anything she could be given to help her sleep as the Irish terrorists in the flat below were keeping her awake at night. She was reassured that terrorists were not planning to blow her up.

On the second visit, she insisted that they were going to blow something up soon and expressed paranoid thoughts.


A full mental health review was conducted by the GP and the community psychiatrist. She came up clean. That's when we contacted the police, a couple of days later the flat below our patient was raided and found to be full of bomb making equipment and Real IRA members.

"How often have I said to you that when you have eliminated the impossible, whatever remains, however improbable, must be the truth."


12. Love sick.

I'm at a big tertiary hospital and had an elderly veteran brought to us one day after being found unconscious in a park. He had alcohol in his system and a quick look at his records showed that this was an ongoing problem with him.

He was a sweet old man who was very grateful for our help, up until day three of his hospitalization. He developed pneumonia-like symptoms and became somnolent for a few days. Then, out of nowhere, he became very inappropriate.

He began grabbing the nurses and propositioning them sexually, pleasuring himself (or at least attempting to), and constantly licking his lips in a sexual manner when anyone even looked at him. He went from a sweet old man to a sexual deviant almost overnight. We even had to wrap his hands up in bandages to stop him from touching himself and others.


Oddly though, he hit on anyone and everyone (women and men) except for me. I guess I wasn't his type. But there was a medical explanation for all of this. (continued...)

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We ended up diagnosing him with Kluver-Bucy syndrome, caused by HSV encephalitis (herpes). Symptoms include hypersexuality and hyperorality. It's pretty rare and I haven't seen it since, but as you might imagine, it left a lasting impression on me. He improved with treatment though, and was incredibly embarrassed after finding out what he had done.


Im glad we could help him.


13. Great doctoring.

Primary doctor here. A 2-year-old refugee child whose parents couldn't communicate well who swallowed a button battery and it was stuck in her throat. For clarity, I didn't know it was a button battery, but something just didn't feel right, so I sent her to the ED.


If she had gone perhaps one more day, she might have died - it had already killed a good amount of tissue in her esophagus and was apparently somewhat close to perforating.

I feel like it would have been very easy to just say she had a sore throat from an illness, particularly with the language barrier. I'm glad that something felt weird to me - she didn't look that bad, but was just holding herself and breathing weirdly.


14. I went to Haaaaarvard.

This happened when I was a resident and it changed me for life.

29-year-old male had finger surgery. Uneventful as I put him under anesthetic.

Within 20 min started to have rising CO2 levels. I called my attending doctor after trying to hyperventilate. She was a young Harvard trained anesthesiologist. She comes in and asks me what I thought was going on. I tell her things seem strange. She tells me to chill.

5 mins later the CO2 is over 100 and I'm freaking out! I call her and tell her this is MALIGNANT HYPERTHERMIA (potentially fatal reaction to certain anesthetics). She says that I'm being ridiculous when I tell her I'm afraid this is the real deal.

I'm bugging out and call the hospitals chief anesthesiologist. He's old. Knows me well and trusts me. Comes in, looks at the monitor and flips out.

Needless to say, we saved the patient just in time. That young hotshot Harvard doctor should have listened to me. It almost cost someone their life. She left a few months later.


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15. Death rattle.

Today I took care of a man who believed he had been bitten on the abdomen by a baby rattlesnake that had fallen out of his ceiling vent, crawled up his abdomen under his skin, up his throat, and was currently coiled and rattling in his brain.


Diagnosis: methamphetamine abuse. Just say no, friends.


16. I need a stiff drink.

This patients flesh was really hard; it was very odd. I was out of ideas and literally googled "stiff person" and got the result of a disease I'd probably heard mentioned in passing in med school but is so rare you forget about it: Stiff Person Syndrome. Yes, it's real, though I thought it was a joke at first.

Its exactly what it sounds like - the person is progressively immobilized and rendered stiff. The causes are somewhat mysterious.

I ordered the test, and it was positive.

I also caught a case of hemochromatosis (basically iron overdose) when I was a medical student that had been missed by a guy's family doctor and bunch of specialists for years. Felt really good about that one.



17. That's a new one.

Hamstrings were painful to the touch and the patient had trouble walking. Turns out he had mononucleosis, but it attacked the lymphnodes in his legs rather than in his throat. None of the doctors I work with had ever seen that before.



18. That sounds made up.

I had the first recorded case of Rocky Mountain Spotted Fever in part of Georgia in 90 years! I've never met anyone else who had it. Nobody could figure out what was wrong with me and I finally got the correct diagnosis from some old mountain doctor they shipped in from the sticks who looked like Saturn in that Goya painting & spent approximately 10 seconds examining me. I will never forget hearing that old man say: "Boy's got Rocky Mountain Spotted Fever. Give him some tetracycline, he'll be fine."



19. A miracle.

I'm not a doctor but my son has pretty nasty pulmonary hypertension that they really had never seen before and no doctors around the world had either . His chances of survival were one in a million and now he is the eldest child to have survived anything like it. He was in end stage and slowly pressure decreased and everyone was shocked.



Sources: 1,2.

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Your first bad haircut probably made you want to die a little when you looked in the mirror. Imagine how the person cutting your hair must have felt. Although, maybe they didn't care at all, as evidenced by the bs excuse they gave you when you finished in the barber chair.

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