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

Sara Dong: 00:00:08

Hi everyone.

Sara Dong: 00:00:09

Welcome to Febrile, a cultured podcast about all things infectious disease.

Sara Dong: 00:00:13

I'm Sara Dong, your host and a Med-Peds ID fellow.

Sara Dong: 00:00:16

In today's Febrile Digest, I'm joined by Justin Penner.

Sara Dong: 00:00:19

Can you tell the listeners a little about yourself?

Justin Penner: 00:00:22

Sure.

Justin Penner: 00:00:22

Thanks Sara for having me on.

Justin Penner: 00:00:23

I'm really excited about this series coming up and I hope everyone else gets as excited about it and enjoys it as much as we enjoyed doing it.

Justin Penner: 00:00:32

I'm Justin Penner.

Justin Penner: 00:00:34

I'm a pediatric infectious diseases consultant at the Children's Hospital of Eastern Ontario in Ottawa, Canada.

Justin Penner: 00:00:42

And I also do some work in Europe, in the UK, as uh that's where I did my Paeds ID and my immunocompromised ID fellowship.

Sara Dong: 00:00:51

Awesome.

Sara Dong: 00:00:52

Yeah.

Sara Dong: 00:00:53

Uh, so this episode of Febrile digest is really here to announce and say how excited we are about our next, uh, what will be four case-based episodes that will run in April and May.

Sara Dong: 00:01:06

And they're all related to congenital infections.

Sara Dong: 00:01:09

And before we started recording, I was telling Justin how I am so thrilled with how these have turned out and, these episodes are absolutely brilliant.

Sara Dong: 00:01:17

And it really is all thanks to Justin and our amazing guests.

Sara Dong: 00:01:21

And I really can't wait for our listeners to meet everyone that came on the show and worked through these interesting cases.

Sara Dong: 00:01:27

And so to kick off this series entitled Curious Congenital Conundrums, we're going to do a quick refresher about the classic congenital infections.

Sara Dong: 00:01:38

So many of us were taught or learned the classic TORCH mnemonic.

Sara Dong: 00:01:42

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.

Sara Dong: 00:01:53

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.

Sara Dong: 00:02:05

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.

Sara Dong: 00:02:16

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.

Sara Dong: 00:02:26

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.

Justin Penner: 00:02:38

Yeah, exactly.

Justin Penner: 00:02:39

I think, um, the reason that we tried to rethink the traditional TORCH screen, as everyone kind of is taught in medical school, is that I think our, our understanding of congenital infections has become much more broad than, than just the classic kind of TORCH infections in namesake, but also in diagnostics as well.

Justin Penner: 00:02:59

So we moved much further along, I think, diagnostically than just the serological tests that we think of when we think of the kind of classic TORCH screen.

Justin Penner: 00:03:08

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.

Justin Penner: 00:03:19

And that's because it gets buried a bit in the O, which I think we'll talk about in a second.

Justin Penner: 00:03:24

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.

Justin Penner: 00:03:36

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.

Justin Penner: 00:03:50

So that's really where the new acronym came from.

Justin Penner: 00:03:54

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.

Justin Penner: 00:04:07

And we have new infections coming on all the time.

Justin Penner: 00:04:10

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.

Justin Penner: 00:04:20

And you know, how, how COVID perhaps may present with a certain features in a kind of congenital format.

Justin Penner: 00:04:27

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.

Justin Penner: 00:04:34

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

Sara Dong: 00:04:40

Yeah.

Sara Dong: 00:04:40

As much as we'd love to have memories that didn't necessarily need these acronyms, I suspect we won't be able to get rid of them.

Sara Dong: 00:04:47

Uh, so it is helpful to think of ways to modify them to fit a bit better.

Justin Penner: 00:04:52

Exactly.

Sara Dong: 00:04:53

So I thought what we could do is talk a little bit about the letters that have multiple things associated with them.

Sara Dong: 00:05:01

Uh, so going through this or, or going from TORCH to SCORTCH.

Sara Dong: 00:05:05

In SCORTCH, the S being syphilis, which you've mentioned briefly.

Sara Dong: 00:05:09

C is still CMV.

Sara Dong: 00:05:11

O is other.

Sara Dong: 00:05:13

R is still rubella and T is still toxoplasmosis.

Sara Dong: 00:05:16

The second C is chicken pox or varicella zoster virus.

Sara Dong: 00:05:21

And then finally H which is really another catchall of more than just the HSV that is listed in TORCH.

Sara Dong: 00:05:29

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.

Justin Penner: 00:05:38

Yeah, of course.

Justin Penner: 00:05:39

So as you mentioned Sara, the O is kind of a catch-all for things that exist currently that we know of, but also perhaps where we can put things that come in the future.

Justin Penner: 00:05:48

So right now, what we've included in our O is malaria.

Justin Penner: 00:05:52

Um, I know that again, talking about a globalized world, we see people traveling much more often now, and we do know that the malaria parasites have a predilection for the placenta and crossing the placenta.

Justin Penner: 00:06:06

So it was something certainly we need to think of.

Justin Penner: 00:06:08

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.

Justin Penner: 00:06:19

And for example, where I did my pediatrics training in central Canada, in the prairies where, you know, you don't think of Chagas.

Justin Penner: 00:06:27

Actually we had a, quite a large migrant population from South America.

Justin Penner: 00:06:32

So it is something certainly that we need to keep in our heads in all locations.

Justin Penner: 00:06:37

Other things in the O that we need to think about our arboviruses.

Justin Penner: 00:06:41

So the most common one that we think of is the one that I mentioned already, which is Zika virus.

Justin Penner: 00:06:46

But I think the jury is out whether or not some of the other arboviruses like dengue.

Justin Penner: 00:06:51

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.

Justin Penner: 00:07:02

Now there's other things that I didn't include in the O, but probably could have been.

Justin Penner: 00:07:06

For example, congenital tuberculosis.

Justin Penner: 00:07:08

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.

Justin Penner: 00:07:20

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.

Justin Penner: 00:07:30

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.

Justin Penner: 00:07:46

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.

Justin Penner: 00:07:56

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.

Justin Penner: 00:08:14

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.

Justin Penner: 00:08:23

The other kind of catch all that we had in our mnemonic was the H, as you mentioned Sara.

Justin Penner: 00:08:30

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.

Justin Penner: 00:08:44

So in particular, the sexually transmitted infections, the blood-borne viruses.

Justin Penner: 00:08:48

It's certainly something that we never want to forget about, co-infections.

Justin Penner: 00:08:53

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.

Justin Penner: 00:09:04

And we do know that STIs travel in packs and bloodborne viruses tend to coincide with each other.

Justin Penner: 00:09:10

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.

Justin Penner: 00:09:18

So the H stands for HIV.

Justin Penner: 00:09:20

And certainly we now in this day and age have many tools available to us to prevent vertical transmission of HIV.

Justin Penner: 00:09:28

So really in my mind, it's a never event.

Justin Penner: 00:09:30

So it's something that I really wanted to stress in the, uh, SCORTCH mnemonic.

Justin Penner: 00:09:36

And in similar terms, the viral hepatitises.

Justin Penner: 00:09:39

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.

Justin Penner: 00:09:56

But hepatitis B, we do have, um, preventative measures that we can take.

Justin Penner: 00:09:59

So we just felt, it was really important to, to bring people's attention to that.

Justin Penner: 00:10:03

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.

Justin Penner: 00:10:18

So not to, to forget about that.

Justin Penner: 00:10:20

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.

Justin Penner: 00:10:31

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.

Justin Penner: 00:10:40

And last but not least, probably something that's not on most people's radar, but certainly is becoming more recognized is HTLV-1.

Justin Penner: 00:10:48

And again, something that doesn't have a traditional congenital infection syndrome, but certainly is something that we would like to be aware of.

Justin Penner: 00:10:57

So these are, you know, mums that perhaps have presented previously with a particular types of malignancies that we would want to screen for.

Justin Penner: 00:11:05

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.

Justin Penner: 00:11:14

So it's something that we should keep in mind.

Sara Dong: 00:11:17

Yeah.

Sara Dong: 00:11:17

And what I think is also emphasized in the episodes that are coming up is, um, well I think the way that TORCH infections are generally taught to us suggests "here's this baby with this very clear syndrome", such as, you know, blueberry muffin rash, and then you'll check their serology and it will clearly say yes or no, this baby is infected.

Sara Dong: 00:11:36

And I think we all know that it's so much more complicated and complex than that.

Sara Dong: 00:11:42

And, or maybe often you're called that a neonate is asymptomatic, but their mom has some sort of incomplete blood work.

Sara Dong: 00:11:49

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.

Sara Dong: 00:11:58

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.

Sara Dong: 00:12:14

But, that's actually all I had for today.

Sara Dong: 00:12:17

Uh, Justin, are there any other thoughts or things you want to share before we wrap up?

Justin Penner: 00:12:22

Uh, yeah, just, I, like you said, Sara, the one really important thing I want everyone to take out of this series is that the congenital infections, when they present clinically, they don't always present like you read in textbooks.

Justin Penner: 00:12:33

And although we think of, you know, the classic, for example, congenital toxoplasmosis child with large head and hydrocephalus and the CMV child with microcephaly and features associated with that.

Justin Penner: 00:12:45

Actually there's a lot of overlap in a lot of them.

Justin Penner: 00:12:48

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.

Sara Dong: 00:12:56

Yeah.

Justin Penner: 00:12:56

And really actually all the features tend to muddle together.

Justin Penner: 00:13:01

And when we think of one, we should really be thinking of all of them.

Sara Dong: 00:13:05

Yeah.

Justin Penner: 00:13:06

And not pigeonholing ourselves into just testing for one thing, because that's when we risk missing other things.

Justin Penner: 00:13:14

Secondly, from a diagnostic perspective, like I mentioned before, and like Sara had mentioned with, with serology, I think we've moved much past that.

Justin Penner: 00:13:23

And what we need to remember with congenital infections is that really it's a multiorgan disease for the most part, for most of the congenital infections.

Justin Penner: 00:13:32

And, and thinking just beyond serology and beyond blood tests as well.

Justin Penner: 00:13:37

So thinking of all the organs that could be infected.

Justin Penner: 00:13:39

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.

Justin Penner: 00:14:05

All of these kinds of things are really important, in addition to the blood test that you're going to do.

Justin Penner: 00:14:09

I think what we sometimes forget is the importance of the placenta itself and what sort of diagnostic value that has.

Justin Penner: 00:14:16

I think too often, the placenta is just thrown out and I think there's a lot we can learn from that.

Justin Penner: 00:14:22

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.

Justin Penner: 00:14:32

And having those sort of specimens are very, very useful.

Justin Penner: 00:14:37

Um, and then molecular diagnostics are also advancing so rapidly that we, we must consider that, uh, as well.

Justin Penner: 00:14:45

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.

Justin Penner: 00:14:57

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.

Justin Penner: 00:15:07

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.

Justin Penner: 00:15:30

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.

Justin Penner: 00:15:42

But also, developmental outcomes and audiological outcomes.

Justin Penner: 00:15:46

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.

Sara Dong: 00:15:59

Yeah.

Justin Penner: 00:15:59

But, uh, certainly warrant further study, further discussion.

Sara Dong: 00:16:03

Well, thank you so much for coming.

Sara Dong: 00:16:05

Uh, we'll have all the listeners tune in next week to get us started with the series.

Justin Penner: 00:16:09

Thanks so much, Sara.

Sara Dong: 00:16:10

All right, everyone.

Sara Dong: 00:16:12

So next week I'll be joined by Dr.

Sara Dong: 00:16:13

Nuria Sanchez-Clemente and Dr.

Sara Dong: 00:16:15

Hermione Lyall from London with our very first case.

Sara Dong: 00:16:18

As always, you can find Febrile on Twitter or the website febrilepodcast.com.

Sara Dong: 00:16:23

You can find the link to Justin's SCORTCH paper we were discussing on the Consult Notes for this episode.

Sara Dong: 00:16:28

Thanks for listening.