beyond zebras

[FutureInternist]

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Both of these in the same week
Factor XIII deficiency (1 in 5 million births)
Malignant Epitheloid Angiolipoma

 

[pillowhead]

I've seen 3 cases of takotsubo's, one of which I was pretty certain of, the other two were called as STEMI's and dx'ed in the cath lab.

Tertiary syphilis was pretty big in the ATL in the early 00's, enough to warrant RPR as part of the admitting mental status change w/u. There are a decent number of infectious diseases that were once horses, and are becoming unicorns. Has anyone seen a kid with epiglottitis in the last 5 years?

Did medical school and am doing residency in Atlanta. Have to say tertiary syphilis is not uncommon at all. I have treated more cases of neurosyphilis than I can count and have done at many many LPs to rule out the diagnosis. The RPR is part of a routine work up on many services I have rotated through as a med student and resident.

We had a case of epiglottitis in our peds hospital earlier this year that came in right before I rotated over there.

I had a patient with propionic acidemia once. It was the only pediatric non-trauma code I have ever been to and the patient died. It was terrible.

 

[hippiedoc13]

i saw Hansen disease. maybe not rare worldwide but definitely in the US. i'm sure someone will rain on my parade though =P

Where I went to medical school, we had a Hansens disease clinic. Got to rotate through on my derm rotation.

 

[Apollyon]

Where I went to medical school, we had a Hansens disease clinic. Got to rotate through on my derm rotation.

I was just talking about that earlier this week with someone where I work now. I won't say where, but in Manhattan, right? (If not, then that makes 2 Hansen's clinics.)

 

[hippiedoc13]

I was just talking about that earlier this week with someone where I work now. I won't say where, but in Manhattan, right? (If not, then that makes 2 Hansen's clinics.)

Nope, California. So that makes 2.

 

[soulofmpatel]

Not sure how common but I took care of a woman in our neuro critical care unit who had a paraneoplastic auto-antibody that antagonized the NMDA receptor. So her body was basically making PCP/ketamine. It wasn't pretty.

I also saw a case of this (anti-NMDA encephalitis) in a teenage girl who presented with psychiatric problems. This can be associated with ovarian teratomas but was not in my case. Did your case involve an occult teratoma?

 

[soulofmpatel]

other zebras I've seen:

optic neuropathy related to linezolid (a few case reports)

Marchiafava-Bignami syndrome

amyotropic lateral sclerosis in a bibrachial distribution (5/5 strength in the lower extremeties).

maple syrup urine disease

A primary mediastinal seminoma (the patient presented with chest pain, and a grapefruit sized mass was seen on CT; no testicular lesion was found; the patient responded well to chemotherapy).

Lennox Gestaut syndrome with an undiagnosed genetic anomaly (abnormal syndromic facies with a negative extensive workup)

I once played a game of online scrabble with an individual who claimed to be one of 50 or so individuals who achieved a PhD despite "profound cerebral palsy." I defeated him in scrabble, but he was a respectable player.

 

[soulofmpatel]

1. case of small bowel transanal prolapse.

Wow! that is wild!

 

[Faebinder]

tertiary syphilis - they don't even record data on this anymore. The ID attending had only seen one other case.

I guess you gotta come to psychiatry. I going to third year and already saw 2 cases of tertiary syphilis... one of who i bare handed caught and diagnosed as part of the routine work up for first time psychosis.

 

[turquoiseblue]

Probably not extremely rare but I recall also seeing:
Hirschsprung's and Wilm's tumor, thyroglossal duct cyst, diastasis rectus abdominis, carcinoid tumor, necrotizing enterocolitis.