36: Febrile Digest - Think SCORTCH + Curious Congenital Conundrums Introduction

And I really can't wait for our listeners to meet everyone that came on the show and worked through these interesting cases. And so to kick off this series entitled Curious Congenital Conundrums, we're going to do a quick refresher about the classic congenital infections. So many of us were taught or learned the classic TORCH mnemonic. So T for toxoplasmosis, O as other, which is really kind of a catch all letter, R for rubella, C for CMV, and H for HSV.

And there are some limitations to this, similar to really any other medical mnemonic or acronym, but there have been other pushes to try to propose different concepts that would be more broad than TORCH. And you, Justin, and some of your colleagues had put together a review suggesting the possible use of SCORTCH as an alternate acronym or a diagnostic framework instead.

And so I'll link everyone to this paper, "Stop, think SCORTCH", uh, which also has some really awesome diagrams and, uh, graphics, which everyone knows we love here on Febrile. But I was wondering, Justin, if you could talk a little bit about how and why you were thinking about this modification and how we can use that to think about infections in these young babies.

The second reason that we tried to kind of diversify this acronym was because the one main infection that that tends to get forgotten in the TORCH acronym is syphilis. And that's because it gets buried a bit in the O, which I think we'll talk about in a second. And, and I think the increasing rates of congenital syphilis that's really been seen around the world, but in, in particular parts of the world where we see it much more often than we did before.

Uh, and that's, you know, secondary to many factors, but certainly we are seeing syphilis in the general population increase, in particular syphilis in populations we didn't typically see in the past, in particular women of childbearing age. So that's really where the new acronym came from. Uh, I think that the really the, the fetal placental interface is quite a interesting concept as a whole, and I think we're still learning about, uh, you know, how infections interplay with that interface.

And we have new infections coming on all the time. And now that we live in a globalized society, uh, just thinking of the Zika virus epidemic in Brazil that we had not so long ago. And you know, how, how COVID perhaps may present with a certain features in a kind of congenital format. I think that the, the jury is still out, uh, and certainly I'm sure that there will be viruses and other infections in the future.

So keeping the kind of traditional acronym dynamic, I think is a really important thing.

And so I was wondering if maybe you could tell everyone a little bit about what you put in this O bucket and H bucket within the SCORTCH acronym.

Similarly in South America, Chagas disease or American trypanosomiasis is something that we need to think about, not just in that location itself, but in travelers or in migrants from those areas. And for example, where I did my pediatrics training in central Canada, in the prairies where, you know, you don't think of Chagas. Actually we had a, quite a large migrant population from South America. So it is something certainly that we need to keep in our heads in all locations.

Other things in the O that we need to think about our arboviruses. So the most common one that we think of is the one that I mentioned already, which is Zika virus. But I think the jury is out whether or not some of the other arboviruses like dengue. There's certainly been case reports of dengue causing a, uh, kind of congenital syndrome, whether or not any of those will cause further issues from a congenital perspective in the future.

Now there's other things that I didn't include in the O, but probably could have been. For example, congenital tuberculosis. I mean, it's not something that we think of terribly often, but it's certainly something that we see in, uh, particularly in, in hyper endemic areas. Um, so, you know, thinking broadly and thinking of that, especially in, in, in mums who have active tuberculosis or tuberculosis of the gynecological tract.

The other one that we included, uh, here is parvovirus and, you know, parvovirus classically we think about with, you know, the very edematous uh, hydropic baby, which didn't really have its place in the traditional TORCH mnemonic. And lastly, and I think this is something that's probably been on our radar radar a little bit more lately, I think is enterovirus and kind of an enterovirus syndrome.

We certainly see babies with kind of a traditional septic like picture or, uh, uh, hepatitis or, you know, even babies that present in kind of similar terms to a congenital HLH like picture, which is certainly something that enterovirus can present like. Which is very different than what we think of traditionally enterovirus presenting like in older children, uh, so just things to keep on our radar and I'm sure there'll be more to come.

The other kind of catch all that we had in our mnemonic was the H, as you mentioned Sara. And, um, that was because we really didn't want to forget the viruses or the infections that didn't have the kind of traditional congenital syndrome, but either can come along with, uh, other infections. So in particular, the sexually transmitted infections, the blood-borne viruses. It's certainly something that we never want to forget about, co-infections.

Now what we know in ID in general is that, um, certain behaviors or certain high-risk behaviors or certain exposures don't just predispose you to one thing, but certainly predispose you to more than one thing. And we do know that STIs travel in packs and bloodborne viruses tend to coincide with each other. And it would just be a shame to miss a concurrent infections, which is why we included those in our H part of the mnemonic. So the H stands for HIV.

And certainly we now in this day and age have many tools available to us to prevent vertical transmission of HIV. So really in my mind, it's a never event. So it's something that I really wanted to stress in the, uh, SCORTCH mnemonic. And in similar terms, the viral hepatitises.

So hepatitis B and hepatitis C, so unfortunately, we don't have any preventatives for hepatitis C, but certainly something that is important to know in mums for future pregnancies, because now we have eradication treatments that can be offered post-pregnancy and certainly for screening in the fetus. But hepatitis B, we do have, um, preventative measures that we can take. So we just felt, it was really important to, to bring people's attention to that.

HSV is in the H as well, which is the classic TORCH infection, which I also wanted to kind of stress in our algorithms and our diagnostic algorithms that really HSV from a congenital perspective can manifest in several kind of different ways as well. So not to, to forget about that. And that is really dependent on when the mother and the fetus or baby is exposed to HSV, whether or not it's early in utero and you really have a congenital HSV syndrome.

Or whether or not it's perinatally, and that's what we kind of traditionally think of with the septic baby or the baby with vesicular lesions or HSV meningitis. And last but not least, probably something that's not on most people's radar, but certainly is becoming more recognized is HTLV-1. And again, something that doesn't have a traditional congenital infection syndrome, but certainly is something that we would like to be aware of.

So these are, you know, mums that perhaps have presented previously with a particular types of malignancies that we would want to screen for. And, and the reason for this, because we don't have any particular treatment for the children per se, but it would be one indication that we would not want the mum to breastfeed. So it's something that we should keep in mind.

And, or maybe often you're called that a neonate is asymptomatic, but their mom has some sort of incomplete blood work. And so in addition to these often difficult to interpret serologies when we have them, we also need to remember to incorporate all these other newer tools and modalities that we have.

And so I hope that this series can emphasize, you know, thinking or, or moving out of that space of how we learned it, and considering these patients as we see them more broadly, um, you know, a lot of times it might just be that they have undifferentiated sepsis of some kind. But, that's actually all I had for today. Uh, Justin, are there any other thoughts or things you want to share before we wrap up?

And I think when we learn it in medical school, we think of, oh, if we have these certain features, we should test them for this one disease.

So thinking of all the organs that could be infected. So this includes thinking of involving our ophthalmology colleagues to look in the eye, involving our audiology colleagues to make sure that the children aren't deaf, uh, making sure that we are ordering appropriate head imaging to see if there are any changes in the brain, whether or not that's polymicrogyria, or inflammatory neuronal lesions, looking at, you know, musculoskeletal abnormalities with x-rays.

All of these kinds of things are really important, in addition to the blood test that you're going to do. I think what we sometimes forget is the importance of the placenta itself and what sort of diagnostic value that has. I think too often, the placenta is just thrown out and I think there's a lot we can learn from that. And again, going back to that interesting dynamic between the fetal placental interface is I think not quite understood as much as it could be.

And having those sort of specimens are very, very useful. Um, and then molecular diagnostics are also advancing so rapidly that we, we must consider that, uh, as well. And I guess last but not least, I really, really wanted to stress and I hope this, the series of episodes do that and stress this-- is the importance of real multidisciplinary collaboration.

You know, involving people and colleagues from elsewhere that are really experts in their field and understanding things from other people and putting our brains together.

And I'm hopeful that, you know, we've brought together some international colleagues who will exemplify that, but also from a research perspective, increasing those collaborations for larger databases and larger randomized controlled trials, because we truly don't understand these diseases as much as we could, or as much as we should.

And, from a treatment perspective, could really learn a lot about both short, medium and long-term effects of the treatments that we currently have and how good they do work, uh, or don't work. But also, developmental outcomes and audiological outcomes. There's so much that we could learn if we all kind of put our expertise together and, uh, create kind of larger databases because these in, in essence are quite rare disease in isolation.