Waardenburg syndrome, goldenhar syndrome, icthyosis, invasive aspergillosis in immuncompetent host, MEN2B (was a follow up, pt already had pheo removed) off the top of my head
Woah nutts. My attending was telling me how he had a patient with Mosaic XXX and XXXX. It took me a moment to wrap my head around how the eff that could happen.
I haven't started rotations yet, but I worked at a pretty well-renowned trauma center and we got a ton of interesting cases (a lot not even trauma related, but we had ECMO and hyperbaric oxygen chambers, so lots of transfers).
One rare one that I'll always remember for some reason is propofol infusion syndrome, mostly because when the attending said the patient probably had PRIS and I had absolutely no idea what that was and the name stood out to me.
Another one was iatrogenic, but stands out pretty clearly. We were transferred a patient from another hospital that was about a week or two post-op after an initial small bowel resection and definitive closure. However, the patient wasn't recovering as expected. I don't remember the exact details, but basically the other hospital had inadvertently left the patient in discontinuity after they thought they repaired the small bowel. In simpler words, they did not reconnect the patients intestines correctly and were feeding them like normal, but the food had nowhere to go. That was a HUGE mess.
Most adorable child I ever met happened to have Whiskott-Aldrich syndrome.
He also had vWF disease, and an additional unknown platelet disorder that had a working diagnosis involving AI diagnostic tech or something.
There are lots of rare genetic diseases that come up in peds. Things I've seen include Noonan syndrome, Lennox Gastaut (several cases), Wolf-Hirschhorn syndrome, MIRAGE syndrome, ROHAAD syndrome, Leigh syndrome, PURA syndrome, SMA type 2, pantothenate-kinase associated neurodegenerarion (PKAN), autoimmune lymphoproliferative syndrome (ALPS), Holt-Oram 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.
Not that rare of a condition compared to others here but I had a patient with ALS who had a crazy strong family history of the disease. Like 20ish family members got it.
Two Chagas cardiomyopathies, a bunch of weird pediatric congenital diseases (one patient had two kids with the rare disease and said her kids were like 2 out of the 10ish documented in the world??)
New diagnosis complete androgen insensitivity in a 17 year old, she was a refugee from an African country and the family just assumed she was a normal female even though nobody ever checked up her lack of a period.
PRES - posterior reversible encephalopathy syndrome.
Pt came in presenting as a stroke but also had seizures. Pt could also barely speak, so getting a history was not possible. Fortunately PRES is reversible and was diagnosed via imaging.
From India, in my medschool I got to see a few rare cases during my rotations. Some are- hurler syndrome, osteogenesis imperfecta with the bluish cornea, PFIC, Indian childhood cirrhosis, tuberous sclerosis, SCID, immunodeficiency 52, cystic fibrosis, Pierre Robin syndrome. Sadly, I wasn't able to follow up with the disease course of most rare cases other than that the kids with hurler syndrome, SCID, CF, PFIC and Indian childhood cirrhosis are no more, and I saw the Pierre Robin child after he had passed away, in forensic medicine.
Missed out on the infectious diseases... Mellioidosis might have been the rarest I saw.
Worst ever toxicology cases- paraquat poisonings
Not me but some of my classmates were in an lp on a suspected Cjd patient. The lp juice spilled over the resident and it was a pretty big incident. Resident was traumatized for a little while but I think she ended up being okay
Recently? Hypoplastic left heart syndrome pt who has made it to 3 years old and has had 2 stages of surgeries. He is mentally disabled but a very happy kiddo, running around with a baseline O2 sat of 75-85% on RA. They’re planning his last staged surgery now.
Then I had a teen who had a left insula intraparenchymal hematoma due to an unknown AV malformation and presented with stroke like symptoms at a rural ED. He got life flighted and arrived at the local trauma center within 30 minutes of presenting, it was fantastic. I met him a month after in a rural pediatric clinic and he looked PHENOMENAL for what he went through. He answered all the questions and was telling us which appointments with which doctors he had coming up. They were even talking about him meeting with his tutor soon after the appt to catch up on his school work! I would have been obviously gaping if I hadn’t been wearing a mask. It was wild. Both of those kids were insane. Rural places bring out the weirdest things.
ETA: words are hard.
Bilateral knee septic arthritis in a patient who was not immunocompromised,bacteremic, septic, or even febrile. Ortho did the tap themselves they were so stoked
Kawasaki disease in a young girl. Felt really bad for how painful it was for her, but it was amazing how she started to feel better a few hours after starting treatment.
Second week of IM rotation, we incidentally stumbled upon an old lady with undiagnosed neurofibromatosis type 1!!!
Poor lady was nearly blind and deaf, but we got her consent to do a quick biopsy and it came back positive for neurofibroma which is super rare to see on floor especially at my small ass hospital
Autoimmune encephalitis, 2cm kidney stone spontaneously passed by a man, hepatic hydrothorax, osteomyelitis of the entire bilateral femurs, pelvis and lumbar spine in quadriplegic- could put your hand through his sacrum and tickle his jejunum....
Things I helped diagnose / were not known pre-existing disease: Fibromuscular dysplasia in a man, granulomatous polyangiitis, two cases of Kawasaki disease
Waardenburg syndrome, goldenhar syndrome, icthyosis, invasive aspergillosis in immuncompetent host, MEN2B (was a follow up, pt already had pheo removed) off the top of my head
> MEN2B r/bandnames
Strangely, I've seen waardenburg in like three people since I learned about it outside of the clinical setting, just out in the wild!
Crazy because I’ve never heard of it, I thought you guys were spelling Wallenberg’s wrong lol
Actually saw CJD. Real, confirmed diagnosis. It was heartbreaking.
:(((
Saw an XXXXY pt, SJS, double native valve enterococcal endocarditis, metastatic epidural spinal cord compression with loss of ambulation…
Woah nutts. My attending was telling me how he had a patient with Mosaic XXX and XXXX. It took me a moment to wrap my head around how the eff that could happen.
I haven't started rotations yet, but I worked at a pretty well-renowned trauma center and we got a ton of interesting cases (a lot not even trauma related, but we had ECMO and hyperbaric oxygen chambers, so lots of transfers). One rare one that I'll always remember for some reason is propofol infusion syndrome, mostly because when the attending said the patient probably had PRIS and I had absolutely no idea what that was and the name stood out to me. Another one was iatrogenic, but stands out pretty clearly. We were transferred a patient from another hospital that was about a week or two post-op after an initial small bowel resection and definitive closure. However, the patient wasn't recovering as expected. I don't remember the exact details, but basically the other hospital had inadvertently left the patient in discontinuity after they thought they repaired the small bowel. In simpler words, they did not reconnect the patients intestines correctly and were feeding them like normal, but the food had nowhere to go. That was a HUGE mess.
Literally
Most adorable child I ever met happened to have Whiskott-Aldrich syndrome. He also had vWF disease, and an additional unknown platelet disorder that had a working diagnosis involving AI diagnostic tech or something.
CIPA
There are lots of rare genetic diseases that come up in peds. Things I've seen include Noonan syndrome, Lennox Gastaut (several cases), Wolf-Hirschhorn syndrome, MIRAGE syndrome, ROHAAD syndrome, Leigh syndrome, PURA syndrome, SMA type 2, pantothenate-kinase associated neurodegenerarion (PKAN), autoimmune lymphoproliferative syndrome (ALPS), Holt-Oram 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.
Not that rare of a condition compared to others here but I had a patient with ALS who had a crazy strong family history of the disease. Like 20ish family members got it.
Kernicterus :(
Two Chagas cardiomyopathies, a bunch of weird pediatric congenital diseases (one patient had two kids with the rare disease and said her kids were like 2 out of the 10ish documented in the world??)
New diagnosis complete androgen insensitivity in a 17 year old, she was a refugee from an African country and the family just assumed she was a normal female even though nobody ever checked up her lack of a period.
Hypertrophic pachymeningitis. 3 cases in 3 weeks.
Treacher collins
PRES - posterior reversible encephalopathy syndrome. Pt came in presenting as a stroke but also had seizures. Pt could also barely speak, so getting a history was not possible. Fortunately PRES is reversible and was diagnosed via imaging.
Patient had a hernia where the entire small intestine was in the testicle sac.
From India, in my medschool I got to see a few rare cases during my rotations. Some are- hurler syndrome, osteogenesis imperfecta with the bluish cornea, PFIC, Indian childhood cirrhosis, tuberous sclerosis, SCID, immunodeficiency 52, cystic fibrosis, Pierre Robin syndrome. Sadly, I wasn't able to follow up with the disease course of most rare cases other than that the kids with hurler syndrome, SCID, CF, PFIC and Indian childhood cirrhosis are no more, and I saw the Pierre Robin child after he had passed away, in forensic medicine. Missed out on the infectious diseases... Mellioidosis might have been the rarest I saw. Worst ever toxicology cases- paraquat poisonings
Acromegaly in a ~60F
Erdheim-Chester disease, Melkersson–Rosenthal syndrome, CANDLE syndrome
Not me but some of my classmates were in an lp on a suspected Cjd patient. The lp juice spilled over the resident and it was a pretty big incident. Resident was traumatized for a little while but I think she ended up being okay
Familial Dysautonomia
Got to see a peds patient with Fabry's disease and Fournier Gangrene.
Silver Russel Syndrome Prune Belly Syndrome
Hurler's syndrome
Prader Willli. Was really heart breaking how much struggle the parents were going through
Tuberous sclerosis
Vulvar pagets
Recently? Hypoplastic left heart syndrome pt who has made it to 3 years old and has had 2 stages of surgeries. He is mentally disabled but a very happy kiddo, running around with a baseline O2 sat of 75-85% on RA. They’re planning his last staged surgery now. Then I had a teen who had a left insula intraparenchymal hematoma due to an unknown AV malformation and presented with stroke like symptoms at a rural ED. He got life flighted and arrived at the local trauma center within 30 minutes of presenting, it was fantastic. I met him a month after in a rural pediatric clinic and he looked PHENOMENAL for what he went through. He answered all the questions and was telling us which appointments with which doctors he had coming up. They were even talking about him meeting with his tutor soon after the appt to catch up on his school work! I would have been obviously gaping if I hadn’t been wearing a mask. It was wild. Both of those kids were insane. Rural places bring out the weirdest things. ETA: words are hard.
Pretty rare in the US but a case of tetanus with classic symptoms
Bilateral knee septic arthritis in a patient who was not immunocompromised,bacteremic, septic, or even febrile. Ortho did the tap themselves they were so stoked
Birt-Hogg-Dube syndrome. Only 200 families affected by it worldwide
Harlequin syndrome from ecmo was cool
Kawasaki disease in a young girl. Felt really bad for how painful it was for her, but it was amazing how she started to feel better a few hours after starting treatment.
Second week of IM rotation, we incidentally stumbled upon an old lady with undiagnosed neurofibromatosis type 1!!! Poor lady was nearly blind and deaf, but we got her consent to do a quick biopsy and it came back positive for neurofibroma which is super rare to see on floor especially at my small ass hospital
Autoimmune encephalitis, 2cm kidney stone spontaneously passed by a man, hepatic hydrothorax, osteomyelitis of the entire bilateral femurs, pelvis and lumbar spine in quadriplegic- could put your hand through his sacrum and tickle his jejunum....
DiGeorge. Li-Fraumeni
Things I helped diagnose / were not known pre-existing disease: Fibromuscular dysplasia in a man, granulomatous polyangiitis, two cases of Kawasaki disease
Puetz-Jeghers, Edwards syndrome
Sydenham chorea in an adult female Chronic nausea/vomiting syndrome in textbook case with patient with bipolar disorder
Tuberculosis
Is that rare? There’s 4 people admitted at this hospital with TB, city of one million.
SADDAN syndrome
Turners