Chapters Transcript Cancer Clues For Pediatric Providers Dr. Huang reviews key aspects of relevant chilhood cancers and discusses how to recognize salient features of typical oncology presentations. I'm going to talk, um, about ways to clue in to the possibility of cancer in your pediatric patients, um, and, um, I've set it up, um, as a set of maybe. 5 or 6 clues um that you might encounter um and that you should be thinking of an of an of an oncological um entity on your differential diagnosis um and um I will get going here. So, uh, disclosures, and uh I have none, and objectives. So, um, at the end, you should be able to recognize salient features of typical oncology presentations, um, and you should be able to review key aspects of relevant childhood cancers. So, let's begin. So I put this slide up because it illustrates uh a physical finding um that may be a clue to cancer and you will notice that um if you can see my pointer, um, the top screen, let me just make sure here. OK, um, you should be able to see, um, that there is, um. Um, a beautiful red eye when you are shining the ophthalmoscope. Um, and, uh, here, uh, it's discrepant. You don't really see that beautiful red eye that would suggest that you could see the retina. There's something in the way here. Similarly, this. Example, and here you can see that there um is darkness, um, but you can see, um, something that is not dark, um, and this um is an example of a loss of red reflex, um, here and here and here. And. Um This is another slide that shows that position is sometimes important. Um, if, uh, you look at the bottom cartoon here, you can see, um, Something abnormal on the retina, and if a light shines through the pupil, 2 The retina, you can see that um if that camera, in this case, fires a flash, um, you will not get light bouncing off the red retina, and you will get something in the way, um, often. Um, white But not always. Um, uh, that's the loss of the red reflex. Um, it's also called more medically leukocoria. Um, and if the, The mass is big enough, um, uh, then you will, um, see it from all angles, from the upward angle or the lower angle. Um, but if that mass is small, you might be at an angle where you can still see a red reflex one way, but another way, you will encounter leukocoria, um, or loss of the red reflex, just to illustrate that if the, um, Mass is small, um, it will be very dependent on the angle, um, and if it's big, then it will, uh, really not matter. Um, and this first cartoon shows that, um, there is nothing in the way, there is nothing foreign in there, um, and so you should get a red reflex, um, uh, at all angles of view. What we're talking about here. Um, Is retinoblastoma, but I do want to point out that there are other reasons for leukooria or loss of a red reflex. Um, for retinoblastoma, we may see that as a reason, 20 to 60% of the time, depending on what source you look at, um. If, um, it is not a retinoblastoma, the most common alternative in children anyway is a cataract, um, and, um, it, that can happen as often as 60% of the time, um, and then there are other entities here that are not as common, um. Uh, but are possibilities for why you are unable to visualize the retina properly and therefore have a loss of the red reflex. This is a picture, um, through, um, a camera, um, that the ophthalmologist is obviously wielding. Um, it's of high resolution, and you can see the cause of a loss of red reflex, because there is, in this case, a retinoblastoma. Um, it's actually sitting close to the, um, the retinal uh, uh, the, um, optic nerve attachment, um, and, um, you can see there's a second. Um, mass or retinoblastoma in a different location of the retina, but this is a fairly classic picture, um, in ophthalmology. So, um, some interesting facts about retinoblastoma, um, I obviously wanted to show you how you can be, um. Um, the person to find, uh, a retinoblastoma, um, and that is through leukocoria, loss of the red reflex, um, but some facts about retinoblastoma to fill out your, uh, appreciation of this finding on physical exam. So, it is the most common initial finding for retinoblastoma, that is to say, it is the finding that gives us a clue that we are dealing with a retinoblastoma. Um, it will be the first finding 60 to 80% of the time, you will see other ophthalmologic, um, abnormalities on exam. Um, you can see strabismus, um, you can see proctosis or. Um, balmus or um hypopion, um, these are all findings that are associated with rettino, um, blastoma, um, it is due to a mutation involving the RB1 gene, um, on chromosome 13, um, and, um. As far as the genetic mutation, there are two forms of it. There's the non-heritable form, um, and the heritable form. The heritable form is, as you can imagine, passed down and Uh, um, from a parent, um, uh, and that's about 40% of, uh, retinoblastoma cases, um, 60% of the time it's non-heritable, so what does that mean? That means that one of the retinal cells decides, um, that it's going to, um, act funny, um, and not. Behave itself, and the retinoblastoma gene, the RB1 gene, somehow becomes mutated in that retinal cell and becomes a retinoblastoma. So, it is only in the child's, um, retina, but not in the child's, um, body. Um, that is to say, every cell of the body. Um, if you have the heritable version, um, and that means that it's everywhere, um, in every cell of your body, this RB1 mutation, um, it will be an autosomal dominant, uh, mutation. So, that means, um, you have a fifty-fifty chance of passing it on to your child if you have the mutation. Um, as a germline mutation, um, that means that there is a fifty-fifty chance that the child's parent, who also has the RB1 gene mutation, um, and has a history of retinoblastoma, um, will pass it on to their child. Um, there is an entity known as trilateral retinoblastoma, that's a reference to you can have a unilateral retinoblastoma, one eye, you can have a bilateral retinoblastoma, both eyes, and then, so what's a trilateral retinoblastoma? We don't have three eyes, most of us anyway. And that would be a retinoblastoma, um, uh, that also includes involvement of the uh pineal gland, and that you develop a tumor known as a pineoblastoma, um, in addition to a retinoblastoma, and we refer to that as a. Um, a, a situation with, um, a trilateral retinoblastoma, the risk is increased when you have the heritable form of retinoblastoma, that seems to make sense, because you have to have the mutation in, in the, in the pineal gland cell, um, but it only happens about 5% of the time, um, if you have the heritable form of retinoblastoma. And I would like you to, uh, keep in mind that unfortunately, retinoblastoma may not be the only cancer you develop, um. It's a, a cancer of young, uh, patients, generally, but when you survive it, um, uh, and you are an adolescent, or at least an older child anyway, you can develop, uh, an osteosarcoma, which is a, a form of bone, um, cancer, um, and, um, it turns out that in addition to osteosarcoma, there are other cancers. Cancers that you can develop late, um, as a uh as a consequence related to uh retinoblastoma, and those include other soft tissue sarcomas and melanoma, interestingly enough, and this is because those cancers in part are driven by RB1 mutations and so what can set you up for retinoblastoma can set you up for those kinds of tumors as well. All righty, that's the first vignette. Um, let's go on to the second vignette. Um, and, um, here, um, I picked two pictures to illustrate a scenario, really, more than anything. Um, and this is, um, the top, um, picture is one of the mother bathing her baby, um, and her hand happens to be on, um, uh, her baby's, um, belly. Um, and, uh, in the bottom picture, this, there's a a medical provider, um, and she has her hands on her patient's belly. And the idea here is that during these activities, it might be possible to palpate a mass. And what do you have to think about if that happens? So, I have a table here um of, uh, that illustrate the various causes of pediatric abdominal masses, and it is organized by organs, so, in this set of diagnoses, uh, it, you know, the kidneys um are um involved here, the liver is involved, and then in this column, the adrenal glands, and then. Um, gastrointestinal tract, pancreas, spleen, and genitourinary, and in each list of diagnoses, under every organ, is, um, the things that can cause an abdominal mass arising from that organ. So, um, you can see here where my pointer is, um, Wilms tumor, also known as a nephroblastoma, um. Uh, as a, as an important tumor that can be found, um, and then in the liver. Hepaoblastoma. And then the adrenal glands, neuroblastoma, and then in the other organs, other kinds of cancers, but I highlight Wilms and hepatoblastoma and neuroblastoma because they're the three more common um causes of abdominal masses that are oncologic in nature. Um, but it is a helpful table, um, to refer to, um, if you are palpating and feel a mass and think that you're able to, um, uh, focus in on a particular organ. So this is a table from a paper, um, and it was published in 2002, so nearly a quarter of a century ago, but it still is very, very helpful. Um, the Children's Hospital of Oakland, um, tabulated, the number of abdominal masses that Ended up becoming, um, or later discovered to be a cancer. This is, uh, over a period of, um, 17 years, I think. And, um, you can see that, uh, Wilms tumor and neuroblastoma, um, Were, uh, by far the most common, um, identified, um, and Wilms, um, was also fairly common, but not nearly as common, um, and, uh, and a, a variety of rare tumors, um, I, I point out hepatoblastoma before and, um, that almost equals the number of, um, Wilms tumors, um, and, uh, so, um. Certainly, Wilms and neuroblastoma are things to think about. Um, this same paper then. Uh, tabulated the number of times the cancer. Um, was actually palpable on initial exam. Um, and again, if you look at Wilms, it was palpable 96% of the time. Um, neuroblastoma, the second most common cancer, um, that they found in their series, 85% of the time, hepatoblastoma, 89% of the time. So, these three cancers, um, are very, very appreciable on physical exam. Certainly other things can be palpable, um, but, um, these are the more common ones. So, I wanted to create a table in which um it's uh in which um this, uh, it provides a summary of the differences um at presentation. Um, and, um, I put down Wilm's tumor and. Neuroblastoma because they're fairly common, um, and, um, I put the features here in the left hand column and the differences of those features in the next two columns. And so if we look at age, we can discriminate. Um, between a Wilms tumor and a neuroblastoma, um, by, um, how old they are, for the older you are, the more likely you have a Wilms tumor. The younger you are, you are more likely, um, to have a neuroblastoma, um, and so, um, the median age is about 44 months for a Wilms tumor, um, and it's 19 months for neuroblastoma. Uh, if you look at mass as a feature, Wilms tumor tends to be more, um, circumscribed, um, uh, but if you were to palpate, um, a neuroblastoma, uh, it, they, it tends to be a little bit less clear where the margins are. If you look at, um, whether it crosses midline, a Wilms tumor is less likely, um, and a neuroblastoma is more likely. Um, uh, the feature of hematuria on presentation is more common with the Wilms tumor. That would make sense, um, and it's less common in neuroblastoma. Um, alternatively, if you look at calcifications within the tumor. Let's say, by imaging, um, it's less common in a Wilms tumor more common in a neuroblastoma. Um, and so, these things can help you, um, maybe favor one entity over the other, um, until, of course, the diagnosis is confirmed with a biopsy. Alrighty, so, um, that is, um, the 2nd vignette. Let's move on to another vignette here. Uh, this is a video, um, and it's going to, um, Let's see here, I may have to put it back on. Pointer. Let me see here if I can get it to work. Um, Well, It looks like. Uh, I apologize here. Let me, um, See if I can. Get it 2. Work here. OK. Um No. Unfortunately, I cannot get this to work. One second, please be patient with me. OK, here we go. About 30 seconds of video and I would like you to. Just note in your brain what you're saying. It's, it's clearly a A young boy. And The Doesn't like to look at the physician. There's something going on with His eyes. But more obviously, There are abnormal movements going on. OK. Let's look at another video. This is another video, it's about 30 seconds long, or, or I take it back more like 15 seconds long. There was a hint of this in the other. On the other slide on the other video, but this focuses on the eyes. OK. So, um, This is. These are 2 videos that illustrate. Bioclonus in the first video. And obsoclonus in the second video. So, myoclonus, as you know, is a rhythmic jerking, generally of the extremities, um, and, um, obsoclonus is sort of random movements, um, can be conjugate, can be disconjugate, um, and, um, but often it can be rhythmic as well, um. I think that the first slide. Not only had myoclonus a little bit, but really was more ataxia and and whole body ataxia, truncal ataxia. Um, and so, the two, videos illustrate something called opsoclonus myoclonus syndrome. And um let me put on my pointer again. OK. Um, and, um, believe it or not, opsoclonus myoclonus syndrome, um, or opsoclonus myoclonus ataxia syndrome is, um. Uh, not only caused by neuroblastoma, although 50% of the time it is, um, but it can be caused by infection. Um, you can have cerebellar ataxia for various reasons, um, infections, specifically a meningitis, um, or, um, a brain tumor of. Some other kind that um actually affects the cerebellum specifically, um, or you can have an encephalopathy of some kind, maybe toxic or metabolic in nature. Um, but we often think about neuroblastoma and less frequently about infection, usually post-infectious as the etiology for Oopsoclonus myoclonus. So, a little bit about this syndrome, um, I think this is easy, generally to appreciate on physical exam, um, but it is Doctor Him, I don't wanna interrupt you, but there are a few people in the chat that are requesting to replay the videos if you could. I'm not sure when the best moment for that would be. Yeah, you want me to do it now? I think I'm doing OK on time, hopefully. Sure, you're doing great on time. OK, good. Um, let's, let's do it now since it's relevant. Um, let me just make sure that I turn my pointer on so I can control the video. All right, here we go. We're backing up here. This one, I'm, it will take about 30 seconds, but, um, observe the. Um, ataxia, probably, and there may be some rhythmic movement in here, um, but maybe overshadowed by the opposite, uh, by the, um, by the ataxia. Here we go. There's a little bit of obsolonus too, uh, but because the child looks down, it's not very, um, appreciable all the time. And here is a moment of respite, um. Not moving or rhythmically jerking, um, as much here. I must admit it's hard to appreciate the rhythmic nature of it, but, um, I think that if you stare at the head and the hands, particularly, you can see it. Um, and then let's move on to this video, and this is the obsoclonus. This is much more evident. Um, I'll go ahead and play that one. This child primarily has conjugate movements of the eyes, but it can't be disconjugate, the eyes moving in different directions. I think this is paired, mostly, but you can see the jerking of the eyes. And it's completely random. OK, there you go. I hope that was helpful seeing it for the For the second time, um. So, um, the oxoclonus myoclonus syndrome often has an infectious prodrome, um, but it is more common to have the infectious prodrome, um, as a post-infectious entity, um, with neuroblastoma, you don't have to have that, um, in neuroblastoma, uh, you will have obsoclonus myoclonus about 2% of the time. Um, uh, and, um, these symptoms when they do occur, sometimes precede the diagnosis of neuroblastoma, sometimes you diagnose neuroblastoma first and then later you develop symptoms consistent with opsoclonus myoclonus, um, but it's more common, um, before the neuroblastoma diagnosis is made, the symptoms, as one can imagine. Um, you have obsoclonus, you have myoclonus, but as we pointed out, ataxia is a part of the syndrome, irritability, um, developmental plateau, so developmental delays can occur, um, and, um, this is a clinical diagnosis, there isn't, um, a laboratory test per se, um, uh, you just have to recognize that you've got all the elements here, um. If you have it, um, it's mostly supportive care, um, uh, and then, obviously, treatment of the underlying cause, um, in the case of neuroblastoma, treating the neuroblastoma, um, can make it better, sometimes it doesn't, um, uh, and, um, sometimes, um, you will have to provide a little immunotherapy to make the, um, Obsolos myoclonus better or even uh resolve it um and so I mean by immunotherapy steroids, which is a common uh modality um intravenous immunoglobulin or IVIG um or even rituximab, which is an antibody against um CD20 which is expressed on white cells with so, um, so any of those things can be effective, um. The prognosis, um, is not great. Um, there are a lot of patients that will have residual impairment. It, it might be, it might be better, but it may be longer-lasting. Um, they can be motor in nature, or they can involve the speech or cognition or behavior. Um, and, um, so, uh, The neuroblastomas that are um that are often associated with obsequonus myoclonus tend to be uh of a low risk nature, and so the the treatment of the neuroblastoma is often very successful. They're. um, but the obsoclonus myoclonus, which is not common, but does happen with neuroblastoma, um, is harder to resolve and can sometimes be permanent, um, better, but permanent of some, in some way or another. OK, let's move on. Here is. A picture, again, illustrating something. Um, and I hope you can appreciate that they're not happy children, um, and they, and it's because they have a headache. Um, and so, with headaches, there are numerous causes of headaches, but I put this up here because headaches may reflect. An oncologic process. Um, I just want to point out that headaches can be primary, which is to say, um, they're headaches, um, uh, for headaches' sake. But headaches can also be due to, um, something else, and that's a secondary headache, and, um, in particular, um, a non. Vascular intracranial disorder, uh, which is, you know, a, a fancy way of saying, um, that there is something going on inside your, uh, brain that is causing, um, your headache, and in, in my case, we're really referring to brain tumors, um, uh, malignant or benign, um, but you can see that, um. It can also be trauma or injuries. Um, it can be something of a vascular nature. So, um, those are other examples of secondary headache, but brain tumors are, are a worrisome, um, cause of secondary headaches. OK, so, besides headaches, um, because they can often be, um, uh, a part of the presentation, um, it's often not, my apologies, it's often not, um, the sole, um, presenting feature. Um, so, let's break it down, uh, into two age groups, uh, infants and young children. I apologize. Let me put my pointer back on, because it's a lot easier to see what I'm referring to. Let's. Break it down into children, um, that are young, infants and young children less than 4 years of age, and then older children, um, and adolescents in another column. The signs and symptoms can be different. Uh, if we are talking about younger children, especially children who Um, uh, um, whose fontanels, um, their sutures have not closed, um, then, uh, you can see macrocephaly, um, nausea and vomiting because of the increased intracranial pressure, um, and, uh. The, um, uh, signs and symptoms of irritability and lethargy. Um, and then, of course, you can have gait abnormalities. Um, you can have weight loss or poor growth. Um, I referred to with macrocephaly, if you're young enough, less than a year of age in general, you can have bulging fontanelles and, um, You know, open sutures, um, you can have seizures, um, pappilledema on exam, um, and headaches, which can sometimes be hard to really, um, Be sure about in younger children, in older children, definitely. Headaches are a very common presenting sign. Um, again, um, they can share with younger children the signs and symptoms of nausea and vomiting, abnormalities in gait, or coordination, seizures, papilloedema, uh, and other signs of increased ICP. You know, I'm not convinced that headaches is only 10%. I mean, that's because it's, that they can complain about it. I think that sometimes irritability is really pain that they can't tell you about as a headache. So, it may not be that discrete. Between the two age grade, uh, two, age groups, but I think that there are certain things that are certain, that are, that are clearly shared, um, as signs and symptoms, but these, um, features should clue you into, along with headaches, the idea that, uh, maybe it's a central nervous system, uh, tumor that is the cause here. Um, so, um, as I pointed out, headaches are very rarely the only feature. You have to think about the other things, um, that along with headache make you worry that there's an intracranial process going on. We talked about signs of Increased intracranial pressure, you know, that is, of course, headaches, but you can have nausea and vomiting. Um, you can have cranial nerve deficits, um, with increased intracranial pressure, specifically of 6, but also of 3 and 4. Other neurological. Deficits we mentioned, um, cerebellar deficits, um, as one example, um, are things that come along with headaches, uh, that are usually present for several months. Um, the headaches don't always have a temporal fashion, uh, pattern, but they can. So what I mean by that, um, the timing is worse when, um, the timing is more, um, associated with, um, um, when you're, um, the patient is, um, waking up, um, and it's worse at that point, um, and, um, so if you're lying down, one can imagine that, uh, the, the cerebrospinal fluid, uh, and the, um. That the mass itself, um, really, um, are at their maximum. But when you are awake during the day, um, gravity pulls everything down, um, and relieves the pressure, and so you may not have headaches, and that explains the temporal pattern that you can sometimes see with the headaches. Um, they can be. Aronous, they can be tension type. Um, there isn't always, um, a given, um, for the kind of headaches you have associated with brain tumors. There is a great website. I put the, uh, the, uh, address up at the top. Um, I think in the interest of time, I won't go through the, um, The website, but it is great, um, you can plug in um the kind of headaches you have or the symptoms, um, depending on your patient, if your patient's a baby or a child or a teen, um, and you can match up. The symptoms and determine whether you need to be thinking about a brain tumor. This is a lovely website that I think, um, for those who are not neuro-oncologists, um, will, will find very, very helpful, um, and it's easy to navigate, um, so it's great. Um, OK, let us move right along, um, think about another vignette. This is another video, so I'm going to turn off my pointer here, um. All right. Um, this is a very short, maybe 15 seconds, and I want you to observe what's happening here. She's gonna turn around and come back. Just look very carefully. And I will do, I'll play it one more time. It's more evident walking away, walking towards, it's still there, maybe not as evident there. OK. Let me put my pointer back on. So, I think, I hope you can appreciate that what I'm trying to illustrate here is a limp. There's a limp going on in this patient, and when a patient presents with a limp, one possibility is, um, um, a tumor, uh, toddlers, um, we don't often think about cancers as a possibility, um, but it can happen. I think it's more difficult because toddlers may not always, um, have an adult gait. Um, uh, and, and if you're young enough, you're, you're not walking, and so it's hard to present with a limp if you, if you don't, if you haven't learned to walk yet, but certainly in a child and an adolescent, um, tumors are definitely high on the list, adolescents, um, it's reasonably high on the list. You're, you can see other diagnostic possibilities here, um, but tumors are certainly, um, something to think about. Um, this, uh, these are X-rays, and I just want to point out that, um, here. You can see. Some, um, linear abnormalities close to the epiphysis, the growth plate, um, in particular, here you can see the same thing, there are. Some linear abnormalities here, and this, it's probably more subtle here, but here, here, here. And those are leukemic lines, um, and, um, it's, it's actually, um, what it's more formally called metaphyceal bands, um, but because you can see it in leukemia, um, it's more often referred to as leukemic lines, even though there are things that. Um, you can have that don't cause, um, that can cause leukemia, um, that can cause leukemic glands that aren't leukemia. So, um, this is another paper, and, um, in this table, this institution pres um presented, um, all the symptoms, um, of tumors related to the musculoskeletal system, uh, I take that back, symptoms related, complaints related to the muscular system in patients who had ultimately leukemia, and you can see that in 12.3% of patients, they presented with a limp, um, who had leukemia. Um, in this table, they presented, um, the radiological findings in patients who had, um. Um, Uh, uh, leukemia, and that they found that, um, tayal bands were, um, present 10% of the time. Now, Some studies, other studies have, uh, had limping up to 30% of, um, presentation of leukemia patients, and up to 42% in some studies for, um, an abnormal, an abnormality, um, and, um, specifically metahocele bands. So, um, there's a little variability. These are institutional studies, so, you know, um, you're gonna get a little variability here, but, but not, not, um, unknown. Um, Limp and leukemic lines and their, um, association with leukemia, um, definitely persistent lymph. Sorry to interrupt you again. I don't know if there's a way to fix this, but the slides are really blurry, um, and someone else in the chat just let me know, like we can't see the letters even. I don't know if it's just a connection problem, uh huh. Is it clear, yeah. Sometimes we can see them, like, it's a little clear right now. I can see the title at the top of this slide. Um, do we have permission to send out the slides at the end of today's session? Yeah, I'm sorry that you can't see it. I mean, can, is it blurry, but you can read it, or is it just? At right at the moment, at the moment we can read it. Sometimes we can't, but since we have permission to send out the slides, um, absolutely. OK. My apologies. I, I don't know, uh, it may be the connection on my end. We're obviously doing it online here, but, um, I'm sorry, um, I hope that you were able to see some of the, um, the, uh, X-ray findings. That's really probably more important, but, um. So, um, if, you know, the thing about a limp is it, it definitely, you know, warrants additional information, uh, evaluation. Uh, I, I hinted at the fact that metaphysal bands or leukemic lines are not always leukemia. Um, so, um, that's one, Uh, etiology, yeah, infections can cause metastasal bands. It could be a normal variation in some kids. Um, illness can cause it. Neuroblastoma, interestingly enough, can cause it. Um, and growth arrest, um, uh, for any reason of the bone can cause it. Um, because, basically, it's an interference of the growth plate function here. The bones that are most commonly involved in include the distal femur, the proximal tibia, the proximal humerus, the distal radius. So, um, limbs, uh, that are more rapidly growing, and there's activity of the growth plates tend to be the, um, the sites of where leukemic lines, um, are more, more evident. While we're on the topic of abnormal radiographic findings, this is not related to leukemia, but I thought I would throw in there that there are other radio, you know, plain film findings that are, um, that are, um. Um, very classically associated with, um, malignancy, so with osteosarcoma, it's a kind of brain tumor, um, you can see a starburst pattern and hopefully you can see that, um, here is the starburst surrounding abnormal bone here, here's a side view of the, of the same bone, uh, this happens. To be the, the, um, fibula, um, and then here you can see, um, that, um, there is starbursting going on here, it's a little more subtle. This is Ewing sarcoma of the bone, and you can see, um, in the femur here, um, this line that is separate. Maybe I should point out my, put my pointer on. You can see a line here outside of the bone, and this is onion skinning. You can also see here, you can see maybe multiple lines or hints of multiple lines here. It is not a singular, um, uh, cortex here, but just onion skinned cortex here. That is. Supposed to be more suggestive of Ewing sarcoma, but. The reason I bring that up is because it might be a board question, um, and, uh, so I've pointed it there. This may be the last vignette, um, and so, um, I am returning to eyes, um, and to, this is a little bit more subtle than the loss of red reflex, um, and, um, I just want you to look at it for a second. Um, and see if you can discern the abnormality here. Uh, obviously, we're looking face on, um, at children who have this finding, and, uh, if you look carefully in this first panel, here is an eye. The other eye. Has a pupil That is more constricted. than the other. And if you look here, it's also very evident, you have a pupil that is smaller, um, and here, you have a pupil that is smaller. Um, Just for reference, it might be very difficult to tell, this is the normal eye, so what you're seeing here is a more constricted pupil, um, and so we call that meiosis, um, and meiosis makes you think of Horner's syndrome, only because Horner's syndrome is also seen in. Um, particular cancers, um, and, um, so Horner's syndrome here has meiosis often as the. Most prominent feature, um, ptosis, and I'm gonna go back, cause I want you to appreciate it, is another feature. So, on the affected eye, I want you to look at this eyelid, and I want you to see that this eyelid is drooppier. Here is the eyelid on the unaffected eye, droopy. Eyelid That's normal, droopy. So this is the 2nd feature of Horner's syndrome. All 3 children have it, and that is ptosis. The 3rd syndrome, the 3rd finding in this syndrome is anhydrosis. They like their osis words, and I think that's why they picked hard, uh, words to characterize this syndrome, but, um, anhydrosis is lack of sweating. Um, you're not gonna be able to see it on the previous slide, um, because, um, it, uh, you're gonna have to get worked up into a sweat, um, in order to appreciate that the affected side does not have sweat, um, and so that's a very, very difficult situation to encounter, um, but I wanted to show you in this cartoon that starting from the hypothalamus is one nerve, um, in the spinal cord. Um, As the origin is um it finally leaves um the spinal cord and the ganglion um and that is um. The second nerve, and that 2nd nerve then is um connected to all the way out to control of the eye, um, and um that is the 3rd um order nerve here, so there's a 1st, 2nd, and 3rd order nerve on the pathway all the way from the brain to the eye, and you can, um. Um, appreciate that, um, impairments of any of these nerves can lead to a Horner's syndrome. Um, most often, um, you will, um, see it here, um, in the, in a third order nerve, um, and that is because things. Um, around the spinal cord here it's the cervical spinal cord, um, and then the ganglion, um, and then all the way out to the third order nerve leading to the eye, um, are impairments that can happen, and specifically in this situation, we're thinking about, um, um. Cancers, um, neuroblastoma is the classically associated, um, tumor associated um um associated with uh Horner's syndrome. So here is a table that breaks down, um, congenital Horner's syndrome, which is, um, Horner's syndrome. Diagnosed within 4 weeks, um, and acquired, um, Horner's syndrome, which is that, um, that is, um, Horner's syndrome diagnosed after 4 weeks and, um, you can see that neuroblastoma is, um, present, um, as, um, a possibility. Um, for those that are very young, as well as those who are older, um, besides neuroblastoma, um, you can have rhabdomyosarcoma, um, uh, and, um, brain stem tumors, so other oncological entities can certainly do it, um, you know, it's more common, um, in, um. Just see here, here we go. It's more common, um, in the congenital, um, um, age, um, to see neuroblastoma because that's usually a younger aged tumor. Um, rhabdomyosarcomas and brain tumors, um, can happen in older children, and so you can sort of see it as the cause for Horner Horner's syndrome in, in that age group. This is a CT, um, and I use this example because this was actually a patient of, um, of mine, um, many years ago, um, and you can see that this is not normal, um, you can see lungs here, heart, diaphragm, stomach, arms, um, and, um, this would be the neck and you can see right around the cervical, um, spine. Um, that, uh, there is a mass, and it turns out that this mass is neuroblastoma. Here is an axial view, you can see the spinal, uh, cord, and then maybe a third order nerve is sitting out here, or a 2nd order nerve that's sitting out here on its way to go up to, uh, the eye, and, um, so, um, this tumor is pushing. Unfortunately, um, on those nerves and, uh, gives you, uh, will, will give you a Horner's syndrome, and that's what this child had. I don't have a picture, unfortunately, of the, um, child with the Horner's syndrome, but this child had a Horner's syndrome, and, um, because of this mass, um. And um it turns out that this mask was the reason that this child came to us, but we als, everyone, including the emergency room, also appreciated that this child, besides having a mask, also had a, um, a Horner syndrome. Um. So, um, with, with regards to Horner's syndrome and neuroblastoma, so let's take those who present with neurobla with with Horner's syndrome or those who have Horner's syndrome, primarily, um, 8% of the time, if you have a Horner's syndrome. You have a neuroblastoma, OK? Now let's take the reverse. If you have a neuroblastoma, 4.6 or 5% will have Horner's syndrome associated with it. So, um, maybe a little bit more common, um, in one versus the other with how you are primarily presenting, um, if you have a Horner's syndrome, there are many who say you should get a chest X-ray, um, and maybe also get you on catecholamines to be sure. That the reason for the Horner's syndrome is not due to neuroblastoma. Now, for those who present with a neuroblastoma, or at the same time clearly have a neuroblastoma with their Horner's syndrome, um. I want you to um appreciate that um although um there are 45, 46, maybe 50% that will present with Horner's syndrome at the time of diagnosis with a neuroblastoma, and believe it or not, the other half of those who are gonna have Horner's. Syndrome with a neuroblastoma present later um in their course, um, sometimes after treatment, um, uh, or early after treatment, um, and, um, so, um, it's something to keep in mind, it doesn't always have to precede neuroblastoma, the Horner syndrome that's associated with neuroblastoma. Um, and, um, I think that is it, um, for my scenarios. Um, I just wanted to give show some credits of some online images, images that I had, and I am finished with my presentation. I hope I have some time left if y'all have any questions. Created by Presenters Frederick Szujuei Huang, MD Cancer (Oncology), Blood Disorders (Hematology), Pediatric Cancer View full profile
