Doctors Reveal the Rarest Condition They’ve Ever Diagnosed

Updated: Mar. 22, 2018

Every doctor has seen a lot over the course of their time in the field. We explored a Reddit thread to find out some of the rarest conditions they’ve ever diagnosed.

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Rat Bite Fever

“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, 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.” These are the most miraculous recoveries doctors have ever seen in their patients.

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Primary Amoebic Meningoencephalitis (PAM)

“We had a case a couple of years ago that still gives me chills whenever I think about it. A younger girl goes to her doctor with persistent headaches, which just started a few days ago. No past medical history of anything similar or really at all about her that stood out as relevant. Unable to diagnose or treat her headaches (which were rapidly growing more severe), she was sent to our hospital for evaluation. We ran her through the typical gauntlet of testing for common causes, CBC/CMB/CT/MRI etc, still with no clue. Nothing came up on blood cultures, either.

At this point she was in the PICU rapidly deteriorating, with high fevers and periodic losses of consciousness. We collected a CSF sample for culture, thinking it might be one of the rarer forms of bacterial meningitis. While this was cooking (cultures usually take at least a few days), we tried again to get any other possible info from her parents. For the first time, they mentioned that they had visited a local waterpark a week or two before the girl’s symptoms started.

For any doctor, those words made their hearts sink. Sure enough, the cultures came back, positive for Naegleria fowleri (aka N. fowleri), the pathogen responsible for Primary Amoebic Meningoencephalitis (PAM). (Up until that point, I don’t think there was a documented case of a patient being diagnosed with PAM who survived.) It’s the incurable brain-eating amoeba that lives in warm stagnant water, and can enter through the cribriform plate at the top of the nose if the patient gets water up there—which happens all the time at waterparks.

Long story short, we basically cook up a (a not-so-FDA-approved) drug cocktail as a sort of Hail Mary attempt at fighting this infection, as nothing else in any other case had ever worked. In addition to this, we basically stick her in a Mr. Freeze chamber, lowering her body temp to below what N. fowleri can usually survive. Unfortunately, most people can’t survive it either. But for some reason, (though in an induced coma the whole time) she steadily improved. When we took her out of the deep freeze and allowed her to wake up, it was incredible. She was alive with no apparent neuro/cognitive deficits, and the new cultures showed no growth of N. fowleri.”

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Creutzfeldt-Jakob Disease (CJD)

“We had a 59-year-old male come in with lower leg swelling. Within three days, he became confused, febrile, and stiff. Thinking it was meningitis, we put him in the ICU, 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 her husband’s (the patient’s) mom. She had Creutzfeldt-Jakob disease and passed from it. It’s a one in a million (literally) diagnosis, and our tests are still coming back for it. Really rare case most doctors will never see.” These are secrets hospitals don’t want you to know (but every patient should learn).

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Cat’s Cry Syndrome

“A six-month-old baby was not getting bigger and dropping off the growth charts. The baby wouldn’t move and would cry all day long. I couldn’t figure it out. I was making preparations to transfer the baby to the university hospital for admission. One of the clinic nurses commented that the baby’s cry sounded like a cat. Ding, a bell went off in my head. Cri-du-chat syndrome or cat’s 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.”

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Wegner’s Syndrome

“An otherwise healthy, 40-year-old migrant worker from central America started coughing up blood intermittently. Everything suggested tuberculosis: history (from area with lots of TB), 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. It turns out he had granulomatosis with polyangiitis (Wegner’s). TB is largely curable, but he’ll be on chemo for a long time with Wegner’s. I’m glad we caught it before irrevocable damage to his organs, though.”

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Progressive Supranuclear Palsy (PSP)

“As a third year medical student, I had a patient come in with four years of worsening balance and slurred speech. She had gotten a crazy workup at an outside hospital system with every sort of imaging possible, biopsies of random sites, and a number of very expensive tests. When I first entered the room, I reached to shake her hand, and from her wheelchair she had to raise her head at me because she couldn’t look up with her eyes. This was the first red flag. I also asked her if she had the sensation where one of her limbs would move without her controlling it, and she said yes, suggesting something called Alien Limb Phenomenon. I diagnosed her with Progressive Supranuclear Palsy with features of corticobasal degeneration, a very rare disease on the spectrum of Parkinson-plus syndromes.”

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Lone star tick bite

“A patient came in with an itchy rash that would not go away for weeks and new swelling of the mouth and tongue. She had “hives” all over her body and the only thing that had helped was repeated steroids. She was a female in her mid-40s who worked with dogs, so we assumed that she had a new allergy to pet dandruff, fragrance in a shampoo, flea medicine, or something. We sent 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. Someone on the team remembered that she works with dogs and 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.” (Don’t miss the secrets surgeons won’t tell you.)

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Marfan Syndrome

“I noticed my patient had a vertical subluxation of her crystalline lens during a dilated eye examination. The part of the eye that develops a cataract later on in life was shifted significantly up. She had severe myopia and astigmatism. Also, her 6’1″ body, very long fingers, and disfigured teeth led me to believe she had Marfan syndrome. She had never heard of it, or seen a cardiologist. A few lab tests confirmed.”

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Menkes Syndrome

“I was called to see a three-month-old boy with hard-to-control seizures. His most remarkable exam finding was his hair. He had been born with a full head of black hair, but at the time I saw him, the first 3-5 mm of each hair shaft was nearly white, with an abrupt color change, still black on the tips. The hair was a giveaway for this Menkes syndrome, a neurodegenerative disorder due to a defect in copper metabolism that is irreversible once symptoms appear.

This was not a fun diagnosis to make, more a sinking feeling upon discovery of the hair, but it was interesting to see at that transitional stage. I had only seen older boys with Menkes before, once the hair was already pale and brittle all over. Usually the hair has changed long before the diagnosis is made.”

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Miller Fisher Syndrome

“I was on call alone on a weekend and in walks a 30-something-year-old guy with an odd constellation of symptoms. He felt like he was walking kind of oddly for a couple of days and then when he looked in the mirror at work the day he presented, his pupils were suddenly massive. He denied any substance use. When I examined him, I saw he was ataxic and had no reflexes. His pupils were about 8mm each, which is very big. I diagnosed him with a variant of Guillain-Barre syndrome called Miller Fisher syndrome. I recommended starting the treatment immediately and sending off antibodies and a lumbar puncture which would confirm the diagnosis. I was right and the antibodies came back positive.”

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Cauda Equina Syndrome (CES)

“I evaluated a man in his early 30s for worsening back pain over a few weeks. He was seen at two ERs, an urgent care, and an outpatient office before my evaluation. I did a thorough history and physical, including a review of previous X-rays. Basically everyone thought this guy had a muscle strain or was seeking narcotics. After questioning him further, he endorsed trouble peeing. We proceeded to get a STAT MRI of his lumbar spine, and he had textbook Cauda equina syndrome. I had the ortho spine surgeon ready to operate on him within the hour.”

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Imperforate hymen

“I had a young girl come into the ER complaining of back pain. She had been seeing physio, sports medicine, and massage specialists for months. She was a competitive dancer so nobody thought much of her not yet having a period (at 15). Totally by luck I asked about this and the timeline worked out. Every four weeks, her back pain got worse. I did an ultrasound and found a big uterus; turned out she had an imperforate hymen—which is when the hymen covers the opening of the vagina—and had been having her period every month without knowing it, which was giving her back pain.”

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[Source: Reddit]