"Undiagnosed Syndrome"

[Apollyon]

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I just started my second week in the PICU here at Duke, and I've seen 2 patients now with "undiagnosed syndrome" or similar wording - it kind of sets me back just for a moment. These are the true "FLK"s - "we know they got something, but haven't found it yet".

I've also seen the PHACES syndrome, the CHARGE association, and something else.

Is this common (the 'undiagnosed syndrome') in PICUs, or (as I logically conclude) just in the larger tertiary care places?

Then again, I don't even know the distribution of PICUs nationwide.

 

[kas23]

I guess it would be common in NICU or PICUs. There are always FLKs in those units. "Undiagnosed syndrome" or "syndromy" looking kids are just what they would be called until genetics come back. And even then, they may just be later labeled FLKs with no definite diagnosis.

 

[GeneGoddess]

And that's why I'm going into genetics! Figuring out WHY a kiddo is dysmorphic is half the fun! I love the mystery. I saw TWO Cornelia de Lange kids, countless DiGeorge / del22q, and some complete unknowns in my Genetics month. Quite a few of these kiddos were transfered from outside hospitals to my referral center. But one of the CDL kids was five, seen by tons of specialists, and we diagnosed her when no one else did!

 

[kas23]

Don't the CDL kids have an arm that tapers off to a finger? Isn't that a big tip-off?

 

[Apollyon]

That's what one of the peds nephro guys said - "This kid looks 'syndromish' ". One kid who is undiagnosed has normal chromosomes - it just isn't clear.

Even so, this has motivated me to research, and the JHU-McKusick online Mendelian Inheritance in Man is actually interesting. However, there's one thing I've concluded (even before this rotation) - any "cool case" or "interesting patient" you may have read about sucks to have as a patient - the proverbial "train wreck".

 

[TrinityGC]

Hey. I'm a genetic counselling student, and I"ve just spent the last month in the medical genetics rotation at a tertiary care centre in Montreal. You do see a lot of unique cases at these centres, and especially in genetics, as these are the kids that no one else knows what to do with. I've seen a ton of wild stuff even only in the last month.

Genegoddess, it sounds like you will really enjoy genetics. It is a lot about problem solving and sleuthing and trying to figure out what is wrong. For a good reference on syndromes, try Smith's Recognizable Patterns of Human Malformation. Its got everything under the sun, and its all cross referenced. Although my role as the genetic counsellor is a little different from the geneticist's, I have still really enjoyed getting to see the diagnostic end of medical genetics. Its good to help understand what these parents have had to go through to get to us!

One easy way to spot CDL: Think burt from sesame street. Unibrow!

Oh. And a great online reference: www.geneclinics.org

If you know any other people interested in genetics, I'd love to chat.

Cheers 😎

 

[jdog]

Hey. I'm a genetic counselling student, and I"ve just spent the last month in the medical genetics rotation at a tertiary care centre in Montreal. You do see a lot of unique cases at these centres, and especially in genetics, as these are the kids that no one else knows what to do with. I've seen a ton of wild stuff even only in the last month.

Genegoddess, it sounds like you will really enjoy genetics. It is a lot about problem solving and sleuthing and trying to figure out what is wrong. For a good reference on syndromes, try Smith's Recognizable Patterns of Human Malformation. Its got everything under the sun, and its all cross referenced. Although my role as the genetic counsellor is a little different from the geneticist's, I have still really enjoyed getting to see the diagnostic end of medical genetics. Its good to help understand what these parents have had to go through to get to us!

One easy way to spot CDL: Think burt from sesame street. Unibrow!

Oh. And a great online reference: www.geneclinics.org

If you know any other people interested in genetics, I'd love to chat.

Cheers 😎

Got a good story. The other day a genetics guy at my rez walked up to me with a picture of an FLK that he had just seen as a consult and said, "look at this kid and give me a diagnosis."
"I don't know, I said. I can't really tell".

"Guess what", the genetics doc said, "i just got paid 300 dollars to say the exact same thing."