There's a really wonderful and unnerving Todd Haynes film called Safe, from the mid-1990s. It stars Julianne Moore as a housewife who develops multiple chemical sensitivity, also known as idiopathic environmental intolerances, which is an unrecognized and controversial diagnosis.
Moore goes through the film in a state of perpetual confusion as she continues to experience symptoms she is convinced are real but that doctors believe are entirely psychosomatic. It's a frightening and claustrophobic experience and one that I highly recommend if you're in the mood for a film that will make you want to shower for eighteen hours straight.
But there are plenty of diseases we can account for––that's even worse, isn't it? After Redditor who-8-my-pasta asked the online community, "Doctors of Reddit, what are the weirdest symptoms of a disease that you know of?" medical professionals shared their observations.
"It is very serious..."
BCKD Deficiency (branched-chain ketoacid dehydrogenase deficiency) but better known as Maple Syrup Urine Disease is as it sounds. People, usually newborns, have pee that smells like maple syrup. It is very serious and can easily be fatal and not every hospital automatically tests for it at birth.
"It's seen with some psychological disorders..."
There's something called pica, which is when people develop a strong appetite for things with no nutrition (ice, dirt, hair, etc). It's seen with some psychological disorders, but also more common stuff like iron deficiency anemia and pregnancy.
"We thought it was a pulled muscle..."
I'm not a doctor but a paramedic and I once had a patient who had butt cheek pain and turns out, she had an abdominal aortic aneurysm that burst and she died shortly after she got to the ER. Confirmed with the ER doc.. butt cheek pain IS a symptom of a AAA. She was just so uncomfortable and unable to sit. We thought it was a pulled muscle... guess we were wrong.
Weirdest symptom I've ever seen.
"So your body..."
Auto-brewery syndrome is a rare condition that occurs when yeast in the gut produces excessive quantities of ethanol, which can cause symptoms similar to those of being drunk. So your body gets itself drunk.
Wild, right?
Can you imagine a disease that makes you feel drunk all the time? (People might joke about how "fun" that might be, but it would absolutely impair your ability to live an independent life.
And maple syrup? We're still not over that...
Let's continue.
"Ask them ANY question..."
Korsakoff's syndrome - severe deficiency of thiamine (vitamin B1) which causes the patient to persistently confabulate (make things up). Ask them ANY question and they'll just make up an answer.
"It doesn't happen..."
Gustatory sweating (Frey syndrome), which is a classic complication of parotid gland surgery is a phenomenon where the nerves to the spit gland are severed intraoperatively which then heal over time but they don't heal the correct way and instead innervate sweat glands on the face. So when the patient eats, they start sweating from their face instead of salivating from the parotid. It doesn't happen nearly as often as it used to and there are a few decent ways to treat it.
"I love it..."
I love it when I find egophony. When a patient has pleural effusion (fluid outside the lung in the pleural space) it changes sound waves as they travel through. So while listening over the fluid with a stethoscope you ask the patient to repeat " e, e, e, e" and you hear "a, a, a,". It's really cool.
Wait... what?
What in the world have we been reading thus far? The world is indeed full of medical marvels.
I also hope to never start sweating from my face.
Onward.
"People with this syndrome..."
Anton Syndrome, where you are completely cortically blind but don't know it. People with this syndrome will just make stuff up if you ask them how many fingers you're holding up, etc., In reality, they can't see anything.
"One morning..."
My best/strangest diagnosis was when I was a fourth-year medical student back in 2006. I was doing a rotation in general surgery. The surgeon was very serious and a Harvard grad.
One morning he tells me to go examine a patient and tell him what he has. I assumed the surgeon already knew the diagnosis. I did the full 300 point med student physical exam and spent hours with this 25-year-old kid. This kid had been in the hospital multiple times with life-threatening gastrointestinal bleeding and severe anemia. There were many strange things about him. He had nystagmus in his eyes and the color of his eyes was off. He described himself as an albino and his skin looked abnormally light though he had dark pigmented spots on his skin.
I got online with all of his symptoms/exam findings and basically typed them into Google. I found a page that almost described what he had but was off. It had a differential diagnosis section of other things to consider. I went down this list (probably 7 conditions) and one of them was completely spot on. It is called Hermansky Pudlak syndrome. Incidence 1 in 500k to 1 in 1 million people. I had never even learned about it in medical school.
The next morning I brought the surgeon some literature. There are some tests to confirm and it was eventually confirmed by the Mayo Clinic. Even the experienced hematologist missed it. I was the only one to get a completely outstanding evaluation for my surgery rotation.
https://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome
Well...
That was fascinating.
We truly live in an incredible world of medical mysteries. What else is out there and how will the medical lexicon change? It's wild to think about.
Want to "know" more? Never miss another big, odd, funny, or heartbreaking moment again. Sign up for the Knowable newsletter here.
@lpeterp/Bluesky
@FPWellman/X
@bobsbeatgmail.com5/Threads