Case of the week

[yaah]

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Young child with diarrhea and failure to thrive. Biopsies of duodenum.

Do you want any stains or do you want to make the dx now? Or do you want more history?

 

[yaah]

One more high power

 

[pathstudent]

How about a PAS stain to rule out/in microvillous inclusion disease...

 

[JohnnyCarcinoid]

I'm on peds right now. Great case yaah!

 

[LADoc00]

Is this like House where we git to be real doctors and figure out some exotic disease??

How bout some serology to rule out immunodeficiency-related villous blunting, CVID comes to mind.

MID also a possibility, PAS stain as the guy above mentioned. But better yet isnt CD10 now supposed to have a characteristic MID-pattern? I have never seen a case tho.

Must be nice training with Appleman.

 

[DropkickMurphy]

Question from the premed......what's CVID?

 

[yaah]

One question I got via PM asked what the sprue labs showed. Sprue labs would be negative. But there is a key reason why this case is not sprue, and you can see it on the images I showed.

You guys are on the right track, I'm impressed.

CVID= Common variable immunodeficiency. If I am not mistaken, CVID can kind of be nonspecific but often does look like sprue. As I said, this is not sprue. Not sprue because this is villous blunting without an increase in inflammation (i.e. no increase in intraepithelial lymphocytes). If I can find an image of sprue I will show to compare.

PAS (this is distinctly abnormal, will try to show you a normal later in comparison)

CD10 (also abnormal, but I don't have a normal for comparison)

Diagnosis: Probably MVID. Awaiting EM to confirm, but probably don't need it. Appelman: Arrrrh, we can make this diagnosis on H&E, grumble grumble.

 

[LADoc00]

I know people are using CD10 on this, but Yaah ask Appleman, what normal small bowel, specifically sprue looks like with CD10 and most importantly, WHY a hematologic marker like CD10 changes with MID.

I havent read the papers on this, but this is a good project for you.

Report back.

 

[yaah]

Well, check out AJSP 2002, 26:902-7 (Groisman et al). They have picks of what it should look like in normal and sprue. Cd10 stains normal brush border, and the brush border elements are sequestered within cytoplasm in this disease instead of on the surface (one possibility). Either way, it is "the abnormal presence of brush border elements in the cytoplasm." The paper goes into more detail. I could post the picture of normal CD10 staining from their paper but that would technically be illegal and you probably have access to AJSP, as do most people online.

 

[yaah]

So here is the normal PAS (from a normal duodenum)

And the comparison with sprue - see the increased lymphs along with the blunting

 

[pathstudent]

Do you even need to do EM? Given the clinical presentation, the histology, the special stain, and the immunohistochemical stain, what else could this possibly be?

 

[yaah]

Here's the thing about EM - per the paper by Groisman if CD10 and PAS are confirmatory (as they are in this case), EM is not really necessary. What the attending here said is the same thing, but they sent a separate specimen for EM and it is a rare case. In addition, this is kind of a bad diagnosis to make since it implies the need for an intestinal transplant. So it doesn't hurt to have EM to confirm it if you have a good EM lab. This case had some atypical features as well that I won't go into.

On the EM: In one corner is a portion of normal brush border with microvilli. In the center is a cell with inclusions containing microvilli (Microvillous inclusions disease).

 

[DrBloodmoney]

Great case Yaah. Thanks for the reference.