beyond zebras

[doctorFred]

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saw a couple of cases the past few months that i am virtually guaranteed to never see again for the rest of my life (and most likely, no one reading this thread will ever see them either.)

-- dego's disease (malignant atrophic papulosis), <200 documented cases!
-- clarkson's disease (systemic capillary leak syndrome) exact incidence unknown
-- castleman's disease ("non-cancerous" lymphoma) exact incidence unknown

anyone got anything off-the-wall exotic to add to the list?

 

[lord_jeebus]

When I was a med student I had a patient with a Stephens-Johnson-like but pathologically distinct disease that had < 20 published case reports. I don't remember what it was called but it was named for the responsible immunoglobulin and the histological appearance.

The next rarest thing I've seen is probably Moyamoya Disease, incidence less than 1:100000.

 

[Speculatrix]

The next rarest thing I've seen is probably Moyamoya Disease, incidence less than 1:100000.

I saw this as well. The angiogram was beautiful! I took a picture and saved it as my desktop for a while.

 

[mig26x]

I have a pt with castleman disease. Saw him in clinic, went to my attending expecting her to know what was the disease and I ended up telling her "ill read about it and tell you" LOL.

 

[dynx]

I have a pt with castleman disease. Saw him in clinic, went to my attending expecting her to know what was the disease and I ended up telling her "ill read about it and tell you" LOL.

Seen a case of castleman's as well...not sure its so rare as to be "amazing" to see a case.

saw one case of takotsubo's. That was cool. I think its just a typical zebra though...again, not rare enough to report.

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

For surgical rarities:
1. case of small bowel transanal prolapse. 2 cases in the literature. That was a long phone conversation with the attending:
me: she has small bowel prolapsing through her anus.
him: she has rectal prolapse?
me: no. Small bowel
him: no its rectum
me: im telling you its small bowel
him: Yeah (mutters something to someone in the background...probably talking ****) put her on the schedule for repair of rectal prolapse.


2. catamenial pneumothorax...confirmed with pics and biopsy. 1:100000

 

[Ashers]

I had a patient with ARC syndrome which I had never heard of. It stands for Arthrogryposis, Renal dysfunction, and Cholestasis.

Another patient with propionic acidemia.

Then one with an as of yet, uncharacterized mitochondrial disorder.

Those are my weirdest so far

 

[JPmamd09]

Saw a case of alveolar soft part sarcoma as an M4. It comprises 1% of soft tissue sarcomas, which in turn comprise 1% of cancers. Don't know if it's all that rare, but our chair was pretty excited about it.

Also saw a little girl with Moyamoya. Poor kiddo.

 

[doctorFred]

ok, so i guess castleman's and moyamoya are rare but nothing to write home about.

 

[gutonc]

Saw a case of alveolar soft part sarcoma as an M4. It comprises 1% of soft tissue sarcomas, which in turn comprise 1% of cancers. Don't know if it's all that rare, but our chair was pretty excited about it.

Yes, this is pretty rare, but hang out in a sarcoma referral center and you'll see "tons" of these. I've personally taken care of half a dozen people with alveolar soft tissue sarcoma. But we're the only institution within ~600 miles that has a sarcoma medical oncologist so we've got that referral bias thing going on. In non-referral settings, its a once-in-a-career thing though.

 

[Droopy Snoopy]

As a 3rd year on neuro I saw rabies and neurosyphilis in the same week. The rabies was the only documented case in my state for the past 30 years or so.

 

[jbz24]

As a 3rd year on neuro I saw rabies and neurosyphilis in the same week. The rabies was the only documented case in my state for the past 30 years or so.

Did the patient survive?

 

[Moonglow]

Where, and from what animal, did that patient contract rabies?

 

[Arcan57]

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?

 

[Moonglow]

Has anyone seen a kid with epiglottitis in the last 5 years?

Yes, several cases seen at Hopkins and U Maryland, all in children under four, each lacking the H-influenza type b vaccination - but, I have yet to see it present in an adult.

 

[turquoiseblue]

I saw necrotizing fascitis 2x within a few months of each other at the same hospital. Both were of the thigh/perenial area. I got to scrub in both. Incidence: approx 1 in 453,333 or 0.00% or 600 people in USA 👍

 

[dynx]

I saw necrotizing fascitis 2x within a few months of each other at the same hospital. Both were of the thigh/perenial area. I got to scrub in both. Incidence: approx 1 in 453,333 or 0.00% or 600 people in USA 👍

really? its that rare? we've got a lot of black tar heroin around here...see plenty of nec fasc. (plenty = like 6 or 7 cases a year)

ARC syndrome? wtf.

 

[Ashers]

ARC syndrome? wtf.

That's what I thought too. I admitted the baby with hyperbili, and I saw the baby throughout her multiple hospitalizations and saw how this disease develops. Ichthyosis is also a common finding. http://www.ncbi.nlm.nih.gov/omim/208085

 

[Rendar5]

Did the patient survive?

Nope, otherwise we would've heard about it, lol

 

[ranmyaku]

I saw necrotizing fascitis 2x within a few months of each other at the same hospital. Both were of the thigh/perenial area. I got to scrub in both. Incidence: approx 1 in 453,333 or 0.00% or 600 people in USA 👍

Are you talking about the specific area and/or bug involved? b/c nec fasc is not that uncommon. Uptodate lists the 3.5 cases per 100,000 persons for just GAS nec fasc. We have 1-2 cases per month at my institution alone.

Admitted a guy with Tetanus recently. Not on my team but another team admitted a guy with acute leptospirosis.

Also had a child with Rabies when I was a MSIII. Of course she died.

 

[danielmd06]

Never seen Castleman's, but over half a dozen Moya Moya. Did the Castleman's all have peripheral neuropathies?

I don't recall how rare these all really are, but I've seen: two cases of sporadic CJD, one case of corticobasal ganglionic degeneration, one case of Krabbe, one case of chronic progressive external ophthalmoplegia, one case of poliomyelitis (pre-existing...the guy came in for another problem of course), one case of primary T-cell CNS lymphoma, two cases of neurosarcoid, one case of amyloid-induced neuropathy, and one case of acute hemorrhagic leukoencephalitis. Cannot recall more off the top of my head.

One interesting case I saw was *presumably* autoimmune limbic enecphalitis, but the girl had these odd orofacial and skeletal "myorhythmias." No pathognomonic ocular findings, but we sent a CSF PCR for Whipple's disease...results not back yet.

 

[yaah]

Castleman's is reasonably common. I am in path and have seen at least 5 cases in my short career. Then again in path we tend to see the rare tumors more than clinicians do - I have seen several alveolar soft part sarcomas too, they are uncommon but not terribly rare.

I once did an autopsy on a patient with Fahr's disease. I had never heard of that one, and still haven't seen it mentioned anywhere unless I go looking for it. Radiologists probably know what it is.

My best "zebra" story was when I was on my pediatric rotation and I walked into a patient's room, she was a 10 year old who was admitted with a pleural effusion and a cavitating lung mass. She was american, hadn't been out of the country. On the table in front of her were a bunch of stickers of zebras. I thought that was a sign that something should be unusual in this case. But nope, bacterial pneumonia!

 

[Rendar5]

Man, this is one of the sucky things about EM. I don't get to make some of the crazy wacked out diagnoses, I just get to suspect things 🙁

 

[Doctor Bob]

As far as wacky ED cases go I've had one case of Tufting's enteropathy (not so rare, but not really an ED thing... but as the above person mentioned, we could only suspect until GI proved it) and one case of Median Arcuate Ligament Syndrome.

 

[doctorFred]

oh yeah, and paraneoplastic cerebellar degeneration. that was pretty weird. the guy's first symptom of lung cancer was dysarthria!

but again, i supposed that's just rare and not unheard of. dego's and clarkson's still stand!

 

[daveyjwin]

On my Peds Rotation M3 (2nd rotation) I saw a 16 year old girl who had just been diagnosed with both Marfan's and Ehlers-Danlos Have both of them is quite rare I think. Also saw NF2 and Rett Syndrome, but those are more common.

 

[rock_climber]

On my M3 IM clerkship I saw a guy with CNS Whipple's.

 

[ShyRem]

Depending on the type of EDS, it may or may not be rare. hypermobility type (the most common) is not terribly rare at all - something like 1:15,000 or so. There is a type that is almost all skin related that has loose and sagging skin that is very rare - something like 30 or less cases ever reported.

Had a pt with Kartagener's syndrome with total situs inversus. Really interesting.

 

[Ashers]

Nope, otherwise we would've heard about it, lol

And when rabies patients do survive, we keep hearing about it for years. My M2 year (fall 2007) we had a lecture about the girl who survived rabies with the "Milwaukee Protocol" in 2004. I just rotated in the PICU (spring 2010), and some of the people were still talking about it. What I heard is that during the time, they were like, "Well, we might as well try this..." It's also in the news here any time the Milwaukee Protocol has been replicated. It's even in wikipedia.

I believe that Dr. Willoughby still lectures to the M2s during micro. It was interesting, but we hear about it so much here.

 

[Buzz Me]

I saw necrotizing fascitis 2x within a few months of each other at the same hospital. Both were of the thigh/perenial area. I got to scrub in both. Incidence: approx 1 in 453,333 or 0.00% or 600 people in USA 👍

Doesn't seem that uncommon here! We probably see 1-2 cases a month.

 

[dragonfly99]

Takotsubo is not that rare. I've seen at least 5 or so in <1 year of cardiology fellowship. You have to look for it (cath with left ventriculogram, or echo) to find it.

 

[Winged Scapula]

Doesn't seem that uncommon here! We probably see 1-2 cases a month.

Yeah, I think most of us who spend time in SICUs see nec fasc on a routine basis.

Just a couple of weeks ago, I got to see it again, as one of my friends bumped a scheduled case of mine to take a nec fasc in. I went in to watch and pester him and the urologist.

The rest of these diseases mentioned here? Can't say I recall anything about most of them.

 

[doctorFred]

Depending on the type of EDS, it may or may not be rare. hypermobility type (the most common) is not terribly rare at all - something like 1:15,000 or so. There is a type that is almost all skin related that has loose and sagging skin that is very rare - something like 30 or less cases ever reported.

Had a pt with Kartagener's syndrome with total situs inversus. Really interesting.

i've seen an inverted kart before, actually at a routine outpatient setting.
"um, i'm not really hearing any heart sounds here.."

it is really interesting, and rare, but not unheard of. i think that also goes for anything else you learned about while studying for step 1.

 

[beanbean]

Saw a patient with Prader Willi and Type 1 diabetes. Type 2 is obviously fairly common in Prader Willi patients, but Type 1 was a surprise. Definitely a challenge to manage both diseases together.

Also saw Waldenberg syndrome once.

 

[thedrjojo]

Had a case of a Popilteal VENOUS anurysm... only about 150-200 in the literature... didn't get to stick around to see the resolution of the case...

 

[Droopy Snoopy]

Where, and from what animal, did that patient contract rabies?

Racoon bite, and no she didn't survive unfortunately.

 

[debvz]

Had a case of a Popilteal VENOUS anurysm... only about 150-200 in the literature... didn't get to stick around to see the resolution of the case...

Fixed one of these on vascular surg last july.

Also had a rabies case in october, diagnosed post-mortem as well. Bat.

 

[kemper6036]

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

 

[proman]

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.

 

[Ashers]

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

Note, not one of my personal patients, but I met someone who had it, and who used to live in Kalaupapa. He was one of my dad's patients.

 

[ResidentMD]

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.

Wow. How did the diagnostic workup proceed (presentation--> initial tests; diff diagnosis,etc)?

 

[Apollyon]

Note, not one of my personal patients, but I met someone who had it, and who used to live in Kalaupapa. He was one of my dad's patients.

There's a PA who works with us who has a dermatologic "problem" (compounded by pancytopenia 2/ drinking his face off when not working) that we say, 150 years ago, would be on a boat to Moloka'i.

("Kalaupapa" is the location of the Hansen's disease colony on the island of Moloka'i in Hawai'i.)

As to the person that says someone will rain on his parade about seeing Hansen's, there is a doc in Manhattan who runs a clinic of M. leprae only, but, at the same time, there's a dictate that no one should diagnose Hansen's disease with intense ID consultation.

 

[J-Rad]

One of the cool things about my job (peds cards) is that a ton of it is the zebras (considering <1% of the population has congenital heart disease):

A smattering of the things seen at my place during fellowship:

In the last few months: two dextrocardia with situs solitus and structually normal hearts (>90% of the time when the apex is on the oppistie side of the stomach bubble, complex CHD is present. Add that to the #s of dextrocardia/situs solitus)

Single ventricles aren't that common (but being the quarternary referral center for the area, we see a lot of them). Have seen a DILV-DTGA; Situs inversus/levocardia with HLHS, D-TGA, pulmonary atresia, Criss-Cross ventricles needing single V pathway d/t straddling TV; HLHS with TAPVR with unusual features to the confluence's egress(es). It's kinda cool to see, essentially, the first generation of single ventricle adults.

Saw middle age man w/ repaired ASD-PAPVR in teenage years. Hypoxemic because his CS had inadevertantly been closed intra-op and a defect w/ R-->L atrial shunting had developed. Fixed in the pediatric cath lab (case reported).

We follow a few neonatal Marfan's.

Echoed a (sad) case of Hemophagocytic Lymphohistiocytosis.

Right aortic arch, circumflex retroesophageal aorta with left descending and whacked-out origins of the head/neck vessels.

In residency, within a 6 month time frame we saw two right sided congenital diaphragmatic hernias (unusual from a numbers and time standpoint).

 

[proman]

Wow. How did the diagnostic workup proceed (presentation--> initial tests; diff diagnosis,etc)?

Not sure. The neurologists handled all that prior. She was admitted to the ICU for one of her episodes that needed massive doses of benzos.

 

[dpmd]

I saw necrotizing fascitis 2x within a few months of each other at the same hospital. Both were of the thigh/perenial area. I got to scrub in both. Incidence: approx 1 in 453,333 or 0.00% or 600 people in USA 👍

Bah. We get tons of nec fasc (less fournier's and more extremity stuff). Most interesting one, started with a lap chole and an unrecognized duodenal perf with bilious wound drainage. Ended up as nec fasc of the abd wall that then progressed into chest wall. We actually got ahead of the infection at one point (after losing most of her abd fascia-would have been an interesting reconstuction) but a few weeks later she died of MSOF. The most we have had on service at one time has been three (but only two of them were fresh). The most fulminant went from talking to dead in about 8 hrs.

 

[RTrain]

Coolest case I've seen in ages was a guy with argyria - you know, he was dyed blue all over from taking colloidal silver. He was in the MICU for something totally different of course. His oropharynx was discolored too, but his cords were normal. 😉

 

[Neuronix]

Wow. How did the diagnostic workup proceed (presentation--> initial tests; diff diagnosis,etc)?

I've seen a few of those too. It's called Anti-NMDA-receptor encephalitis and it's all over the literature now. Check out:

http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(08)70224-2/fulltext

 

[gutonc]

Coolest case I've seen in ages was a guy with argyria - you know, he was dyed blue all over from taking colloidal silver. He was in the MICU for something totally different of course. His oropharynx was discolored too, but his cords were normal. 😉

We had a guy like this on the transplant service too. Turns out the silver didn't cure his leukemia. Every time we called a consult on him or he got transferred to the MICU, we'd have to make sure to mention the whole "he's blue" thing, otherwise we'd get a panicked call/page about it.

 

[Ashers]

We had a guy like this on the transplant service too. Turns out the silver didn't cure his leukemia. Every time we called a consult on him or he got transferred to the MICU, we'd have to make sure to mention the whole "he's blue" thing, otherwise we'd get a panicked call/page about it.

I have never heard of this before. Very interesting. That sounds like it could've been used in Arrested Development for Tobias' Blue Man group saga.

 

[StritchMD2011]

Probably not "super" rare, but I saw a case of Vulvar necrotizing fasciitis.

Does this technically count at Fournier's? We had a nice academic argument about this one.

We also had a guy on our general medicine service this week with inclusion body myositis. Again, not astronomically rare, but definitely moreso than polymyositis or dermatomyositis.

 

[FutureCTDoc]

I've seen Lemierre's syndrome, a mycobacterial infection other than Hansen's or TB, anophthalmus, avellino corneal dystrophy.