Episode 41
41: Curious Congenital Conundrums - In the Eye of the Beholder
Drs. Carsten Kruger, Clare Nourse, and Justin Penner discuss how they approach a case of congenital syphilis in the third case of the Febrile “Curious Congenital Conundrums” series.
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Transcript
Hi everyone.
Sara Dong:Welcome to Febrile- a cultured podcast about all things infectious disease.
Sara Dong:We use consult questions to dive into ID clinical reasoning, diagnostics, and anti-microbial management.
Sara Dong:I am your host, Sara Dong, an adult and pediatric ID fellow.
Sara Dong:Here on Febrile, we use patient cases and consult questions to learn about high yield ID topics.
Sara Dong:We'll present pieces of the story of a patient's case, and then pause along the way to hear from our guest consultant.
Sara Dong:Today, we actually have two!
Sara Dong:You are now listening to the third installment of the Febrile series entitled Curious Congenital Conundrums, and I have several guests to introduce.
Sara Dong:I'll start with our cohost, Dr.
Sara Dong:Carsten Krueger.
Sara Dong:He attended medical school at the University of Calgary before competing a residency in pediatrics at the University of Toronto.
Sara Dong:Currently he's completing a fellowship in pediatric infectious diseases at the University of Ottawa, and is co-principal investigator of the National Canadian Pediatric Surveillance Program study on congenital syphilis.
Sara Dong:Our first guest discussant I will introduce is Dr.
Sara Dong:Clare Nourse.
Sara Dong:Dr.
Sara Dong:Nourse is a pediatric infection specialist at Queensland Children's Hospital in Brisbane and a professor in the School of Clinical Medicine at the University of Queensland.
Sara Dong:She qualified in medicine from Trinity college, Dublin and trained in Dublin, Melbourne, and Brisbane.
Sara Dong:Her particular interests are in HIV, TB, and syphilis infection in children, tropical infection, and infection in resource limited countries, particularly Timor-Leste.
Sara Dong:She travels regularly to Timor-Leste, and is a founder and board director of Maluk Timor, a nonprofit organization for what she chairs the Medical Advisory Committee.
Sara Dong:Her particular research interests are in translation of epidemiology of infection in children to clinical practice.
Sara Dong:And then our second discussant today you've met before on the show.
Sara Dong:This is Dr.
Sara Dong:Justin Penner.
Sara Dong:Justin completed his medical school and pediatric residency at the University of Manitoba in Winnipeg, Canada.
Sara Dong:Always having an interest for ID, he subsequently completed a Master's in Tropical Medicine and International Health at the London School of Hygiene and Tropical Medicine followed by a fellowship in pediatric ID at St.
Sara Dong:Mary's Hospital in London, UK, and a fellowship in pediatric immunocompromised ID at Great Ormond Street Hospital.
Sara Dong:Justin is a member of the Penta network educational group on congenital infections and has a particular interest in indigenous health in the Canadian North.
Sara Dong:He currently works as a pediatric ID consultant at the Children's Hospital of Eastern Ontario in Ottawa, canada, and at the Qikiqtani General Hospital in Iqaluit, Nunavut, and as an honorary academic fellow at the Great Ormond Street Hospital.
Justin Penner:Hi Sara, thanks for having us!
Sara Dong:All right.
Sara Dong:And before we jump in, we're going to start with our one nonmedical question, which is if you guys would be willing to share a little piece of culture, something that you have enjoyed recently.
Justin Penner:So I can maybe start and then I'll let Clare jump in after me.
Justin Penner:So I guess something that, uh, uh, I'm not sure if, Sara if you know, but I may, uh, tennis aficionado.
Justin Penner:So although my, uh, my sports love has been taken over by the Olympics lately, I'm quite fond of tennis, both playing and watching, although I'm certainly not as agile as I used to be.
Clare Nourse:Well, I like that Justin, cause I'm also extremely keen on tennis.
Clare Nourse:I play about five times a week.
Clare Nourse:Did you watch the Australian Open?
Clare Nourse:I really enjoyed the Australian Open recently and we didn't miss Novak at all.
Justin Penner:Certainly
Carsten Krueger:I'm not much of a sporty person myself, but I think like food is a big part of culture and we made a great delicious Quebecois brie, uh, cranberry maple um, pecan cheese recently.
Carsten Krueger:And that was delicious.
Sara Dong:Oh, that does sound amazing.
Sara Dong:Well, uh, I will hand it back over to Carson so we can jump into the case.
Carsten Krueger:So you were called by our adult ophthalmology colleagues about a case that they have just seen in their clinic, which they would like your assistance with.
Carsten Krueger:They've seen a 31 year old woman with new onset vision loss and eye pain, who's been diagnosed with uveitis.
Carsten Krueger:In the investigations to determine potential etiology for uveitis, syphilis serology was found to be positive.
Carsten Krueger:Treponema pallidum IgG positive with an RPR of 1:1024.
Carsten Krueger:The woman has just given birth four months ago to a baby boy who was well at birth, but required admission to hospital at 12 days of life.
Carsten Krueger:They tell you that the child has previously been admitted to hospital, although the name is not familiar to the infectious diseases team.
Carsten Krueger:As such, you go to the electronic medical record to gather a bit more information.
Carsten Krueger:You discover that the baby was admitted under the pediatric hematology team with pancytopenia, lymphadenopathy, and hepatosplenomegaly.
Carsten Krueger:The workup for congenital HLH was done, uh, given the constellation of symptoms, and the child was treated for febrile neutropenia with four days of piperacillin-tazobactam and spontaneously improved.
Carsten Krueger:Biochemical and genetic investigations for congenital HLH were negative.
Carsten Krueger:Blood and urine cultures were negative.
Carsten Krueger:Bone marrow biopsy did not reveal a malignant etiology.
Carsten Krueger:An LP was not performed at the time of admission due to thrombocytopenia.
Carsten Krueger:The neonate spontaneously improved and was discharged with a yet to be determined diagnosis with close followup under the hematology team.
Carsten Krueger:So my question to our guests, how would you go about approaching this curious conundrum?
Justin Penner:Clare, maybe you want to start us off.
Clare Nourse:Oh, yeah.
Clare Nourse:Very happy to.
Clare Nourse:Justin, I, I have to say that this isn't as curious a conundrum as it might've been for me given we've had a very similar case recently in Brisbane and I suspect similar cases are presenting, uh, across the world.
Clare Nourse:So, you know, we need to do a lot of things.
Clare Nourse:We need to get more history, more information about the mom's history and her antenatal history, social history during pregnancy or sexual history and exposures and whether the mum has signs or symptoms of, of syphilis or any other STI.
Clare Nourse:I guess with the history, also need details of the birth and whether there were any signs or symptoms of congenital syphilis in the baby or afterwards.
Clare Nourse:Um, and whether the baby had any screening during its previous admission.
Clare Nourse:And then we would look at all the booking bloods for syphilis and other STI for mum.
Clare Nourse:Did she seroconvert after her booking bloods?
Justin Penner:Yeah, that's definitely a good start.
Justin Penner:This is certainly an interesting case.
Justin Penner:I think, it'd be interesting, interested to hear Clare what your experience in Australia has been with the epidemiology of syphilis.
Justin Penner:But certainly in the UK and where I work in Northern Canada, we've certainly been seeing a lot more positive cases in pregnancy, but equally, uh, several cases that were negative in pregnancy, and either found to be positive at birth or in their subsequent visits afterwards.
Justin Penner:Either they presented with a symptom of syphilis near or after they delivered or, or whether the child's presented with, with symptoms despite a negative screening in pregnancy.
Justin Penner:And I think it's just interesting that the epidemiology that we're seeing and that we're, we're seeing less of the syphilis in the kind of, what we think of is the "traditional" risk population.
Justin Penner:And in fact, we're seeing more in the, uh, women of childbearing age, which certainly then spills over to increased chances of congenital syphilis.
Clare Nourse:Yes.
Clare Nourse:Justin, we're seeing exactly the same in Australia.
Clare Nourse:I mean, we're seeing increasing numbers of cases of not only in Queensland, but every state except Tazmania.
Clare Nourse:There's been a tenfold increase in the last years.
Clare Nourse:In Australia, this is partly been related to an outbreak in the Aboriginal population, in the Northern parts of Australia, but as well as the outbreak, which is a heterosexual outbreak, we also, traditionally we would have seen syphilis in men who have sex with men, especially in the urban centers.
Clare Nourse:But now that has spilled over due to different sexual practices and perhaps less condom use, into the heterosexual population and particularly young and marginalized urbanized women who are often couch surfing.
Clare Nourse:But not only this group.
Clare Nourse:And of course, most of them are, a lot of them are childbearing age.
Clare Nourse:And so, as you mentioned, we're seeing congenital syphilis occur, probably through fetal death, through resulting fetal death, resulting in stillbirth.
Clare Nourse:We're seeing infants born prematurely and unwell and having syphilis diagnosed.
Clare Nourse:And then we are seeing infants presenting at three, four, up to nine months of age.
Clare Nourse:So we really need to be alert to the possibility of congenital syphilis, not only in newborns but in older infants as well.
Justin Penner:Good.
Justin Penner:And I think, um, yeah, the differential at this point certainly includes congenital syphilis.
Justin Penner:And as Clare mentioned, we need to work the baby up for that.
Justin Penner:Um, but I think we also need to remember that, um, STIs travel in packs and we need to not forget about the other blood-borne viruses and STIs that could be transmitted, uh, in pregnancy as well.
Justin Penner:Uh, in particular, the ones that we could potentially prevent so HIV and the viral hepatitides, particularly hepatitis B.
Justin Penner:And what we would not want is this child to also acquire HIV, perhaps because the mum was breastfeeding or but because, uh, the baby was missed, uh, at birth and we would not want to miss a window of opportunity for that.
Justin Penner:So just keeping in mind that although syphilis is definitely highest on the differential from a congenital infections, we wouldn't want to miss any other co-infections as well.
Carsten Krueger:Very good.
Carsten Krueger:Looking into the history a little bit further into electronic medical records.
Carsten Krueger:It appears that the following infectious workup was done on previous admission.
Carsten Krueger:Negative cultures of blood, urine, and bone marrow aspirate.
Carsten Krueger:Negative viral PCR panel from a nasopharyngeal swab.
Carsten Krueger:HIV PCR was negative.
Carsten Krueger:Stool culture was negative for antibiotic resistant organisms.
Carsten Krueger:And the bone marrow aspirate was negative for amastigotes and Leishmania PCR.
Carsten Krueger:You confirmed that the baby received four days of pip-tazo after which blood counts gradually improved prior to discharge.
Carsten Krueger:On review of the admission examination to hospital, there is no mention of rash or skin desquamation but there were scattered petechiae in keeping with thrombocytopenia of 14.
Carsten Krueger:And a normal ears, nose and throat examination, and musculoskeletal and neurologic examinations were also completed.
Carsten Krueger:But on the abdominal exam, there was marked hepatosplenomegaly, which was confirmed on abdominal ultrasound.
Carsten Krueger:The remaining viscera, including the kidneys, ureters and bladder were unremarkable.
Carsten Krueger:The umbilical cord had fallen off by the time of admission, and several small lymph nodes were noted in the axilla bilaterally as well as in the inguinal and in the anterior and posterior cervical regions.
Carsten Krueger:The fontanelle was level and soft and the cranial ultrasound was normal.
Carsten Krueger:And on specialized laboratory testing analysis for perforin, SAP, XIAP functional analysis, granulocyte release assay, soluble CD25, LDH and triglycerides were not consistent with congenital HLH.
Carsten Krueger:Lymphocyte subsets and memory cell panels were normal for age.
Carsten Krueger:And the maximal CRP measured was 41 mg/ml.
Carsten Krueger:You are also able to obtain the results of mums booking bloods in pregnancy at 12 weeks gestation, which demonstrated negative HIV serology, negative treponemal and nontreponemal tests and negative hepatitis B surface antigen.
Carsten Krueger:Hepatitis C serology was not available as it's not typically done in the UK during pregnancy.
Carsten Krueger:Antenatal serologies were not repeated in the later trimesters as is standard in UK guidance.
Carsten Krueger:The child was born by spontaneous vaginal delivery at 39 weeks and one day gestation with no complications.
Carsten Krueger:The initial postnatal course was uneventful and they were discharged at about 24 hours of life, where the newborn discharge exam did not document any abnormalities.
Carsten Krueger:You're able to contact the family and arrange to see them in the pediatric infectious diseases clinic this week.
Carsten Krueger:What are the next steps you wish to take in investigating the child for potential congenital syphilis?
Justin Penner:Yeah.
Justin Penner:So clearly this child was admitted under a hematology team because he's had some, or she has had some quite extensive workup from a congenital HLH perspective.
Justin Penner:But, um, certainly there seems to be some more kind of simpler things that, uh, we as infectious diseases doctors probably would have sent at the beginning.
Justin Penner:Uh, but again, this just demonstrates in these complicated cases, really the importance of, uh, multiple teams being involved.
Justin Penner:I think at this point, probably we can talk a little bit about the, the workup for congenital syphilis in this child.
Justin Penner:And I think one thing is that syphilis is, can be quite a confusing, uh, bug to work up.
Justin Penner:I think the differences in the treponemal test and the non treponemal tests can get quite confusing.
Justin Penner:So I think at the first, uh, point in time, I think the important thing to do is which has already been done, which is really good, is going back to mum's initial prenatal bloods to seeing if she was negative then.
Justin Penner:And then repeating her current bloods to see if she's seroconverted throughout this time.
Justin Penner:We can then do a paired, uh, serological assays with the mom and the child.
Justin Penner:So the more important serological assay in this sort of circumstance would be the non treponemal test, so the RPR or what used to be used more commonly is the VDRL.
Justin Penner:Uh, however they're often thought of as kind of interchangable.
Justin Penner:We can then compare the titer in the, the mum and the child to see if the child's titer of RPR is, is quite significantly higher than the mothers, particularly if it's four times higher than the moms.
Justin Penner:Other things that I always do in these sort of circumstances as well is I would ensure that we think of all the other systems that can be involved in congenital syphilis.
Justin Penner:So I would certainly repeat that CBC to make sure that the blood counts, particularly the platelets have normalized, and liver enzymes and the bilirubin would also be important to check in this circumstance.
Justin Penner:Thinking of other kinds of organs that could be affected, we think of the eyes and both anterior and posterior disease in the eye as well as hearing loss.
Justin Penner:So involving the audiologist to make sure we get to some good ABR uh, examinations would also be good.
Justin Penner:I think in this sort of circumstance, we need to really highly consider doing a lumbar puncture to make sure that this child doesn't have a meningeal process involved as well, as it can be quite tricky, as we all know as pediatricians, to differentiate this clinically in a child of this age.
Justin Penner:And certainly this would make a difference with regards to treatment and follow up in this child as well.
Justin Penner:Although it may be hard to convince this mother, I do think that it's something that would be important to do.
Justin Penner:When it comes to treponemal specific tests, I don't find them as helpful in these sort of circumstances.
Justin Penner:So that would be your TPPA or TPHA or any of the tests that would stay positive after an infection in the mum.
Justin Penner:As we all know, the, those antibodies will be transferred to the baby through the placenta.
Justin Penner:So the baby will certainly still be positive, uh, all the way up until about, at most 18 months of age.
Justin Penner:Uh, so the non treponemal tests in this sort of circumstance would be the most important.
Justin Penner:I'm sure Clare probably has some stuff to add as well.
Clare Nourse:Yes, no Justin, I would take a very similar approach.
Clare Nourse:I mean, I, in my mind, I usually have two steps.
Clare Nourse:One is, has the child got congenital syphilis, most likely?
Clare Nourse:And then if so, then what additional investigations would I do?
Clare Nourse:And to make the diagnosis of congenital syphilis in my mind, I have sort of five, five aspects to it.
Clare Nourse:As you mentioned, one is, is there, are there any abnormalities in the clinical examination and this child has in a way typical, sort of, syphilis mimicker, um, abnormalities.
Clare Nourse:We had a very similar case where a child presented and was thought to have congenital leukemia because of the anemia, thrombocytopenia, sepsis-like presentation, very large liver.
Clare Nourse:So I go clinical features.
Clare Nourse:Then, as you mentioned, the RPR.
Clare Nourse:Is the RPR four times higher than mother's?
Clare Nourse:That's almost diagnostic.
Clare Nourse:Not always the case.
Clare Nourse:We use IgM here.
Clare Nourse:Um, I don't know if you do, but um, it can take a week to come back.
Clare Nourse:But there's surface IgM in the baby.
Clare Nourse:I would also look at, um, th the percent and other.
Clare Nourse:And this isn't often available at it, won't be available probably at three months, but even if, um, if the baby was younger, we would always look at the histology of the placenta and do syphilis PCR.
Clare Nourse:And then the last thing we are doing here in Queensland and because of the high incidence is looking at the adequacy of maternal treatment.
Clare Nourse:And if mum hasn't been treated, um, or has had treatment less than four weeks before delivery, like very recent treatment.
Clare Nourse:We almost err the side of caution and consider the baby may have congenital syphilis.
Clare Nourse:So those five aspects.
Clare Nourse:And then as you mentioned, if the diagnosis is likely or confirmed, then we go on to do eye assessment, skeletal survey, lumbar puncture.
Clare Nourse:Are the main extra investigations.
Justin Penner:And I'm really glad Clare that you brought up the placenta.
Justin Penner:Cause I think we often forget about that and if we can get our hands on it, it's, it's often a very important thing, which we can do molecular and histologic tests on it as well.
Justin Penner:It's the only other thing that I forgot, and this is certainly a, probably a little bit of an older child, so we wouldn't likely see it, but if this was a younger baby that had skin lesions or a hemorrhagic rhinitis, the other place that we can often isolate, uh, molecularly, the syphilis, is by doing a PCR sample of the nasal secretions or of the, uh, skin lesions themselves as well.
Justin Penner:So that's just another thing to keep in mind.
Clare Nourse:Absolutely.
Carsten Krueger:So the mother reluctantly agrees to return for a lumbar puncture of the baby and has blood work drawn the day of the clinic, which demonstrates for the baby, TPPA qualitatively positive, RPR is 1:128.
Carsten Krueger:The mother's TPPA is also qualitatively positive and has the same RPR 1:128.
Carsten Krueger:HIV PCR is negative.
Carsten Krueger:Hepatitis B surface antigen is negative.
Carsten Krueger:Hepatitis C PCR is negative and toxoplasma serology is negative.
Carsten Krueger:The complete blood count has a hemoglobin of 108, platelets of 168, and white blood cells of 8 with an absolute neutrophil count of 5.1 and an absolute lymphocyte count of 2.6.
Carsten Krueger:The ALT is 23.
Carsten Krueger:The total bilirubin is 6, and the lumbar puncture reveals a total white blood cell count of 7 with protein of 0.54, glucose of 3.6, and the CSF RPR that's pending.
Carsten Krueger:Long bone x-rays are normal.
Carsten Krueger:The ophthalmologic exam is normal.
Carsten Krueger:And the audiology is also normal.
Carsten Krueger:How would you go about discussing treatment for the mother at this point?
Justin Penner:Claire, do you want to start this one off for us?
Justin Penner:I know we've had lots of discussions about treatment and congenital syphilis, so I'd be curious what you, how you would start with this child.
Clare Nourse:Uh, so with the child.
Clare Nourse:So look, I think for us, we would give this baby, this infant full treatment.
Clare Nourse:Um, because the mother hasn't been treated at all during pregnancy and, you know, we are treating quite a few infants, where we may not have absolutely confirmed a diagnosis of congenital syphilis with a positive PCR from the baby or positive PCR from the placenta or positive IgM.
Clare Nourse:But if it's a suggestive history and if the mother hasn't received any syphilis treatment during her pregnancy, then we would treat the baby.
Clare Nourse:And our treatment is 10 days of IV crystalline penicillin.
Clare Nourse:Um, we hardly ever used the benzathine IM option.
Clare Nourse:And whether the baby has, um, neurosyphilis or not, and the test we use is VDRL in the CSF.
Clare Nourse:Um, it's a little bit more sensitive than the PCR.
Clare Nourse:So whether that's positive or not, we still give the same 10 day course of intravenous penicillin.
Clare Nourse:If the baby does have a positive VDRL in the CSF, then we would repeat that CSF at six months of age.
Clare Nourse:And if it's still positive, retreat the infant.
Justin Penner:Yeah.
Justin Penner:I, I completely agree.
Justin Penner:I think you have to err on the side of caution in these sort of circumstances, the mum had clearly has evidence of syphilis and so does the baby, uh, without any treatment in pregnancy.
Justin Penner:And certainly we don't want to miss this, in this sort of phase, and then have other signs or symptoms that develop later on in life either.
Justin Penner:And I would treat it exactly the same as, as you would Clare and I think that it is important to do the lumbar puncture in this sort of circumstance.
Justin Penner:I think some people at this age would consider the IM benzathine penicillin dosing regimen, but certainly if there was evidence of, uh, CSF involvement, then that would not be optimal treatment in this baby.
Justin Penner:I think it's, it's quite interesting in that, um, this baby clearly made a quite good recovery after their short course of penicillin based antibiotics in their initial investigations and admission under the hematology team with piperacillin-tazobactam.
Justin Penner:So I do wonder if, whether the baby had been kind of partially treated or even fully treated with the pip-tazo, but I don't think that at this point we can rely on that as an optimal treatment regimen.
Justin Penner:And certainly your regimen that doesn't classically, uh, thought of as crossing the blood brain barrier, so if they did have neurosyphilis would not be equally reliable.
Justin Penner:Um, I do know that, um, some guidelines which we would consider giving a dose of IM benzathine penicillin at the end of the 10 days of crystalline penicillin G.
Justin Penner:Although that's not universal, but certainly something to consider.
Justin Penner:And I think interesting point that Clare brought up about repeating the LP.
Justin Penner:As with most congenital infections, there's, uh, differences in practice.
Justin Penner:I think the safest thing to do is to repeat the, the lumbar puncture, uh, as Claire stated at six months of age, although some of the guidances, uh, particularly the CDC guidance, is kind of going away from that, uh, and going more on clinical grounds.
Justin Penner:Which as we all know, again, babies are quite hard to determine, but certainly if there wasn't serological evidence that this baby's, uh, RPR decreased with treatment, then I would certainly do a repeat, uh, LP.
Clare Nourse:Thanks, Justin.
Clare Nourse:And interesting about this single IM dose.
Clare Nourse:As you were mentioning a slightly different scenario to what we sometimes use it, which is at the end of a full treatment of IV penicillin.
Clare Nourse:But, um, and I know in the US CDC guidelines, there is an option for infants who are sort of a low suspicion of congenital syphilis, but can't be completely excluded, of not giving them the 10 day IV treatments.
Clare Nourse:So these are ones where you don't really suspect it, but it's possibly possible.
Clare Nourse:Sorry, I shouldn't, I should clarify.
Clare Nourse:If you ever have any suspicion, we should treat the infant fully.
Clare Nourse:I guess we have some situations where, we believe the infant doesn't have congenital syphilis, but we know that we're not going to be able to follow up the infant.
Clare Nourse:It's likely they won't come back for their checks, serologies at three months and six months.
Clare Nourse:And in those situations, we might give one dose of the benzathine penicillin IM.
Justin Penner:And again, just shows the importance of followup in these children and repeating their non-treponemal serologies to make sure that we're seeing that adequate decrease, because if we're not, we need to, we need to think outside of the box as well.
Clare Nourse:Yeah.
Justin Penner:And Clare, now we're on the topic.
Justin Penner:I'm just curious what your thoughts are of non penicillin based treatments.
Justin Penner:I know that some people would use ceftriaxone or other antibiotics.
Justin Penner:Although I know classically, we think of penicillin as the only and gold standard treatment for syphilis.
Justin Penner:And I think that's what we would normally do, but perhaps times will change at some point.
Clare Nourse:Yes.
Clare Nourse:Yes, it's interesting.
Clare Nourse:And it's something it'd be great to have better evidence of activity of some of the non penicillin alternatives, especially the third generation cephalosporins.
Clare Nourse:I mean, both for treatment of the mother and of the infants.
Clare Nourse:We're very strict on it.
Clare Nourse:So for going back to treatment of the mother, if a mother is allergic to penicillin, we will try and bring the mom in and desensitize the mother so that we can give penicillin treatments and not opt for alternative agents.
Clare Nourse:And it may be that they're effective, but I don't think adequate evidence is there for crossing the placenta and treating the fetus at the same time.
Clare Nourse:Um, with regard to the baby, again, we're pretty strict about the penicillin.
Clare Nourse:We only use penicillin, although we've had the same experience in newborn infants who present with sepsis, often premature, and are given our empiric antibiotic regimen of penicillin and gentamycin or ampicillin and gentamycin, and seem to improve a little and then a diagnosis of congenital syphilis is made.
Clare Nourse:And then we would revert to treating them with, with IV penicillin.
Carsten Krueger:That was an excellent discussion.
Carsten Krueger:So the baby undergoes a full 10 days of treatment as you only received the CSF RPR results on the ninth day of treatment, which turns out to be negative.
Carsten Krueger:As previously stated, the ophthalmology examination is normal as is the audiology exam and the long bone x-rays.
Carsten Krueger:The mother's GUM results come back negative for hepatitis B, C , HIV, chlamydia, and gonorrhea.
Carsten Krueger:And she's treated for syphilis uveitis herself with 10 days of IV penicillin G .The baby is discharged from hospital in good condition with pediatric infectious diseases follow-up.
Carsten Krueger:Is there anything else that our guests would like to discuss or final thoughts they'd like to impart?
Justin Penner:Yeah, I think this, you know, it brings up lots of good points.
Justin Penner:I think there's been lots of good discussion.
Justin Penner:One of the things that we need to remember or think about is whether or not, we, especially in certain populations, need to be thinking about third trimester testing for syphilis and other bloodborne viruses in pregnancy.
Justin Penner:I know in the, uh, populations that I work with, uh, in the regions up north, syphilis, HIV and hepatitis B are all screened for three times in pregnancy, and then again at birth.
Justin Penner:Just because of the such high risks in our indigenous populations, as that perhaps would have caught to this, uh, case a little bit earlier and brought it to the attention of the medical staff.
Justin Penner:Now, with that said, I think there's also just a couple of things to keep in mind with regards to false positives, as well as false negatives with syphilis testing.
Justin Penner:So we do know that, women with a new early disease may not be caught depending on when their syphilis serology was done.
Justin Penner:If they just acquired syphilis, you know, days before they were tested, that might not serology up in their psychology just quite yet.
Justin Penner:And on the contrary, if they have an overwhelming burden of disease, you often also get a prozone effect where the result may be falsely negative as well.
Justin Penner:And you may be falsely reassured when in fact, actually the burden of disease is very high.
Justin Penner:Similarly from a false positive effect, um, which we do see sometimes in our immigrant populations from different parts of the world.
Justin Penner:So we know that the, uh, non syphilitic treponemes, the most common being yaws, but there are a couple of other varieties like bejel and pinta.
Justin Penner:Depending on which part of the world they're coming from, uh, especially, international adoptees, we see this sometimes, uh, where there is really no way of differentiating between syphilis and the endemic treponemes.
Justin Penner:So just something to keep in mind.
Justin Penner:And then lastly, I guess, just to note that, although, at this age, and in this sort of scenario, um, this was clearly acquired peri natally.
Justin Penner:But in children and older children, for that matter too, we must never forget of sexual abuse or abuse as, uh, another mechanism of transmission of syphilis as well.
Justin Penner:Claire, do you have any other clinical pearls?
Clare Nourse:Great.
Clare Nourse:Yeah.
Clare Nourse:Great points Justin.
Clare Nourse:In each one of those topics that you brought up, warrants and could have a long and interesting discussion about them and I'm glad syphilis is such infection interesting and fascinating infection.
Clare Nourse:Isn't it?
Clare Nourse:Um, yeah.
Clare Nourse:So on those points, we here in Queensland, which is in the north of Australia, do encounter patients with yaws.
Clare Nourse:On some of the islands surrounding, some of the islands north of Australia, yaws is endemic and fairly common.
Clare Nourse:And so, uh, but yaws is also found occasionally in our Northern, especially the indigenous population in Northern Australia.
Clare Nourse:And so we have been referred children with supposed syphilis as an older age.
Clare Nourse:Where, as you say, based on the epidemiology and risk factors, not on the serology we have assumed that this is due to yaws, which is syphilis Treponema pallidum pertenue.
Clare Nourse:So the other point that you brought up, which is so important, and we're undergoing a review in Queensland at the moment is about antenatal testing.
Clare Nourse:And that is the key to preventing congenital syphilis.
Clare Nourse:And it's difficult.
Clare Nourse:I think risk-based screening of women as to whether they warrant additional syphilis investigations during pregnancy is very, very difficult.
Clare Nourse:Many of the babies we have encountered with congenital syphilis, have moms who wouldn't have any particular risk factors for acquiring syphilis.
Clare Nourse:And hence in Western Australia, they've introduced routine testing at 28 weeks.
Clare Nourse:In Queensland, we have a sort of a multi-tiered testing regime.
Clare Nourse:If you are from an endemic area or an outbreak area, I should say, you will get up to five tests during pregnancy.
Clare Nourse:This is the Aboriginal population in particular, if we do identify risk factors in the mother, we will do between two to five tests during pregnancy, depending on their risk, but that's a flawed method.
Clare Nourse:And we are considering introducing routine 28 week testing.
Clare Nourse:Although that will still miss some, some mothers.
Clare Nourse:So I think it's so important to have public education and awareness amongst clinicians of thinking about syphilis in mothers or pregnant mothers or congenital syphilis in infants.
Clare Nourse:And just to say, syphilis, as you mentioned is such a great mimicker.
Clare Nourse:In older children, now we need to be aware that they may come in with, um, the classical signs of inflammation in their teeth and nasal bridge, the rugaes around the mouth, where they get inflammation, bowed legs, frontal bossing, the mulberry molars.
Clare Nourse:All of those are the classical ones and sepsis!
Clare Nourse:Especially an infant under 12 months of age, if they present with sepsis and aren't responding, although we usually give a penicillin based antibiotics, so they might, think about congenital syphilis.
Carsten Krueger:Thank you both for these closing remarks.
Carsten Krueger:Uh, one thing that I wanted to highlight is that it's not indigeneity that it creates the risk of congenital syphilis, but rather the underlying structural determinants of health and historic and ongoing systemic racism that creates disproportionate risks for First Nations and indigenous people in Canada and abroad.
Sara Dong:Thanks Carsten.
Sara Dong:Well, again, I'm so grateful to Carsten, Clare, and Justin for joining us for this talk on congenital syphilis.
Sara Dong:Please stay tuned for the rest of our Curious Congenital Conundrum series.
Sara Dong:You can find the introduction and the prior two cases in our previous episodes, and then be on the lookout for our fourth and final case in two weeks.
Sara Dong:Our usual disclaimer, all presented patients on this podcast are inspired by patient experiences, but cases are constructed or significantly altered and de-identified for learning purposes.
Sara Dong:Don't forget to check out our website, febrile podcast.com to find the consult notes, which are written complements to the show with links to references as well as our library of ID infographics.
