42 Unbelievable Cases Where Doctors Faced Rare Diseases That Defied All Odds
If it occurred on the maternal chromosome, you get Angelman Syndrome which typically results in the child being overly happy, laughing all the time with light eyes and hair color, but also severe intellectual and physical disabilities.
If the mutation occurred on the paternal chromosome you get Prader Willi Syndrome, which results in the child having excessive hunger and can literally eat him/herself, but with only mild cognitive disability. These kids may go a very long time not getting diagnosed and will become quite obese.
Bonus disorder if your still here: “Williams Syndrome” with this one the affected individual has an extremely charismatic, outgoing and fun “cocktail party” personality. They are cognitively impaired in most aspects except for speech and have very unique facial features that are described as “Elf like”
EDIT: whoa this blew up. So happy to see people interested! Given the amount of discussion this has generated, I want to clarify that terms like “cocktail party personality” and “Elfin” were once typical descriptors geneticist used but are now steering clear of due to negative perceptions. Same goes for “Happy puppet syndrome”. Thanks everyone for such an awesome discussion!
I had a patient who presented with purple/silver skin. He looked like a smurf and the silver surfer had a baby. However he was in the ER for abdominal pain and was highly offended when I asked him about his skin pigmentation. My first impression from across the room was that he was severely hypoxic and I was amazed he was walking and talking. He made comments that made it appear he was a huge conspiracy theorists so I was suspicious of colloidal silver toxicity. When I asked him about it he shouted angrily “I don’t take silver supplements anymore!” After some prying, he said he took them to self treat for a prion disease which he self diagnosed from “the grape juice test” where you spit out grape juice into a Petri dish and “a fungus grows out of it”. At this point I’m like yeah this patient is nuts. I’m pretty sure he listened to too much Alex Jones and as a result permanently dyed his skin blue, a condition called argyria.
Malignant Hyperthermia in my 11 year old patient. I was only in my second year of anesthesiology residency. I had a salty old anesthesiologist as my attending and she calmly led the whole team through the treatment. My patient did great and her labs were all normal when I took her to the Peds ICU. I couldn’t sleep for two nights and still have haven’t gotten over it.
My colleagues had a patient with catecholamine-induced ventricular tachycardia. AKA every time this 13 year old exercised vigorously or even got too scared, the adrenaline would induce a dangerous arrhythmia that needs to be shocked before long in order for him to survive. Seriously.
Rare and interesting would be Pentalogy of Cantrell which has the heart outside of the chest because the sternum has not fused.
Id seen it before with just a bit of the heart on view, but with this kid it was completely out: you could see pretty much the whole heart with the aorta and lung vessels all that was holding it, the heart just beating away. I’d done adult cardiac for a bit but this was a little different. Tiny. We covered it with a polystyrene cup, until the kid went or theatre to have it pushed back inside.
It’s meant to be 1:65,000 live births.
Neurologist here- we see a lot of weird stuff. Autoimmune encephalitis (“Brain on Fire”), late onset familial neuromuscular diseases, rare presentations of cancer, or paraneoplastic disorders. But one rare one sticks out for me.
We had a patient who had come in with confusion and aphasia (trouble speaking and understanding). We got more of a workup and saw small strokes all over, but in peculiar distributions, and not ones that would explain his findings. Along with it we saw micro bleeds all over superficial parts of his brain.
Turns out he has what’s called Cerebral Amyloid Angiopathy Related Inflammation. It’s an extremely rare inflammatory subtype of a stroke disorder that we still aren’t totally sure what it is. It has similar amyloid deposition you see in Alzheimer’s, deposited around vessels, which makes them weak and prone to stroke and bleeding. It causes rapidly progressive dementia.
I presented the case to our department, a large academic center, and most had never heard or seen it in their career. A couple of the stroke doctors were the only ones who knew about it and they’d never seen it. Really interesting case.
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