 Somebody presenting a case on Seussac syndrome. So this is a patient that has actually been seen in continuity and neuro ophthalmology in retina and uveitis along with the neurology service. So a 27-year-old girl who presented with one week of blurry vision in the left eye. She was originally, she was kind of a poor historian secondary to her neurologic status. After her mom in mid-December of 2014, she had kind of had an episode of dizziness, confusion, had went to an outside ER, had a CT scan. She had a history of migraines, I thought it was maybe an atypical migraine, was treated as such and was sent home. Christmas day of 2014, she developed nausea, vomiting, headache, worsening of her dizziness. Didn't go back in to be seen, it kind of got a little bit better. Then again, shortly after the new year, she again went back into the ER. At that point, she was not oriented to date. She wasn't able to perform activities of daily living, including taking care of her children. Her mom was getting very concerned. They did not admit her at that time, they again thought it was maybe migraines related. She came back two days later, they admitted her again. She was oriented only to person. At that point, she was transferred up here to the university for further evaluation. Her past medical history, so she has a PFO, she had hypothyroid migraine depression, some hyperlipidemia at a young age, GERD, and then gestational diabetes during her second pregnancy, which had since resolved. She'd had a couple surgeries. Her brother had epilepsy, secondary to a hypoxic brain injury, but otherwise her family history was relatively unremarkable, and she had two children. Her list of medications, as you would expect with her medical history. She was admitted to the neurology service here, and then they asked for an ophthalmology consult, so she actually came over to the Moran for evaluation. When she was seen here, her vision was 2020, so it's a little bit small. She did not have an APD, she did not have any proptosis, and her anterior chamber or anterior exam was unremarkable. Her posterior exam, so you can see, she's also visited the glaucoma service I should mention. She does have an increased cup to disk, but otherwise her macula on the right eye looked fairly unremarkable. She had not been having any symptoms in her right eye. And then her left eye, we can dim the lights just a little bit. So again, she has increased cup to disk, but of note, she has this sort of arterial wall plaque that's not necessarily at the bifurcation, but sort of extending along the mid arterials. And then you can subtly see probably here, there's also just this sort of whitening, which you'll see on other sides is some edema in that area of that section of the retina associated with that arterial pattern. This is her OCT finding when she first presented. So you can see, interestingly, if you look, her central fovea actually looks really good, but if you, as you move superiorly into the area where the occlusion of this artery looked to be at, you start to see, you have disruption of the inner retinal layers, whereas the outer retinal layers are still preserved in that area. But you can see you sort of lose the natural architecture of the inner layers of the retina. This was her original FA at presentation. So you can see she does have a patent cellular retinal artery. And then as we move through, we have a lot of pictures, so I'll kind of move quickly through. But as you move through, you can clearly see that she doesn't have good filling of this superior temporal arcade. And that as you extend farther along, she has normal filling of her right eye, but again, even at three minutes, it's still not really filling very much through the superior temporal arcade. So at this point, the questions that we were asking was, what should we consider in terms of our differential? What do we think she has? Is there any other testing that we would recommend just from our findings with her associated neurologic symptoms and what recommendations would we make to the primary team? So her differential is, I mean, somewhat extensive. So she is looking at her findings on her FA. She has a branch retinal artery occlusion in a young patient with these other associated neurologic findings. So you're thinking most likely of potentially something that could be causing these branch retinal artery occlusions and maybe a similar process in the brain. So you have to be thinking about vascular conditions but also some infectious inflammatory conditions as well, potentially. So the things that she got done when she presented, she had an MRI which showed these subcortical lesions and multiple vascular territories and most notable in the corpus callosum. We'll see the images in just a second. And then she also had some leptomeningial enhancement. She had a normal ultrasound. As you remember, she had a PFO. So thinking, did she have a clot in her legs that was then going up into her arterial system, which was fine. She had a normal CTA. She actually got a cerebral angiogram. They were wondering about a vasculitis, which she did not have. This was actually done prior to when she had her imaging done here at the Moran. And then she had a fairly significant coagulation workup, all of which was unremarkable. She also had a lumbar puncture, which did not show any signs of infection or inflammatory component. So we felt based on all of this workup, as well as our discussion with the neurology team, that she likely had Seussac syndrome. So just quickly a review, and then I kind of wanted to go over her case and follow up. Seussac syndrome is an autoimmune disease. It was first described in 1979, although kind of the major paper that describes it was in 94 where he has a large series of cases that he presented. In most times, it affects females between the age of 20 to 40. There's a large female to male preponderance. Interestingly, just as a consideration, this is a very similar age range to where you see patients presenting with multiple sclerosis. And you'll oftentimes see there's a chance for misdiagnosis of Seussacs as multiple sclerosis based on MRI findings and sort of obscure neurologic symptoms. The classic symptoms is sort of a triad of brain, eye, and ear, typically. So the biggest thing is they usually will have this headache and sort of mental status confusion. They may also have associated personality changes as well. And then the eye is usually visual changes related to having recurrent brain and retinal artery occlusions. And then they also often will have hearing loss that's bilateral or associated vertigo as well. So if you are in clinic and you're starting to see this sort of conglomeration of pictures, particularly with the unusual mental status, things that you want to consider. This is a really great paper that reviewed all of the reported cases as of 2013. So just of note, they had 304 cases. So you'll see the numbers here on the left are of the cases that they looked at, how many of them actually had data, and then the percentage of that. So of note, again, primarily 80% are female. Most of their patients were Caucasian. And then the age is usually in the kind of young mid-30s. Also of important note, just from a prognostic standpoint. So about half of the patients had a monocyclic or sort of one-time incident that then they did not have recurrence with treatment. But close to 50% had sort of a polycyclic or multiple recurrences. And if you looked at this set of patients, so they had 201 which had relapses. And the mean of that was about two and a half relapses, even though they were on treatment. So there is a pretty significant risk for relapse. And so one of the questions is, how can you best predict who might relapse and who may need more aggressive treatment so that they do not relapse? Yes? What is their sampling by? I don't have a great answer for that. I don't know. These were mostly all American studies. There was a few that were outside of the US. But a lot of them were US studies. So there probably is somewhat of a sampling bias. In terms of clinical presentation, I think this is an important thing just to note is that if you look at presentation, only 13% of cases had the complete triad at presentation. The majority, about 2 thirds of them had CNS involvement. And then about 40% had either ERI involvement at presentation. Throughout the course of their disease, almost everyone eventually had all three, 85% had all three. But it's just important to know that they may not have all three at presentation. So you kind of have to keep this in your differential. This is a very busy slide. But again, just pointing out the fact that from a CNS standpoint, broadly described, about 75% have an encephalopathy of some sort, with about 50%, kind of presenting with these sort of vague confusion or somewhat cognitive impairment that's somewhat difficult for patients to describe, and thus often sometimes difficult for us as physicians to pull out if we're not patient in our history-taking. In terms of clinical findings, so she has the really classic retinal findings. What has been termed as a gas plaque, because he was one of the first people who wrote about it. But this sort of yellow-white retinal arterial plaque. And importantly, it usually does sort of think of branch artery occlusions that occur at the bifurcation when they're from a cholesterol or other emboli. These usually are not at the bifurcation. They're sort of mid-arterial and in between the bifurcations. The MRI findings, so this is our patient's MRI findings. And the biggest thing to note is it does commonly affect the corpus callosum. Usually in the active phase, they describe them as these sort of snowball lesions that then evolve into these sort of punched out lesions. So this is her follow-up MRI a year later. And you can see there's almost these punched out lesions in the areas of the corpus callosum. But you can see how this pattern could somewhat be confused with sort of the Dante's fingers associated with MS. They do look different, but something to consider. Almost universally, the cerebral angiogram will be negative because the vessels that are affected are too small to pick up on cerebral angiogram. So if you have a really high suspicion, actually, fluorescing angiogram is a better screening and also, obviously, way less invasive for the patient. And then as we talked about, the OCT, I mean, it should show classic findings of a branch retinal artery inclusion, so you will see the disruption of the inter-retinal layers. So that can be helpful as well. The treatment, there's a wide variety of treatments that are used, but most of these people end up getting high-dose oral steroids initially and then some sort of immune-modulating therapy during the first one to three years, depending on how active their disease is. Cyclophosphamide and mycophenolate are the kind of the two most classic. There's a few descriptions of some people using neurobiologics, but most people still prefer cyclophosphamide or mycophenolate. And then you can also use IVIG as a therapy for disease that's breaking through conventional IMT. The pathophysiology is still somewhat unknown, so it is affecting these small arterioles. And there's some thought that it's some sort of endothelial dysfunction, but it's not well understood still at this point. And the prognosis, unfortunately, is really difficult to tell patients at their presentation. So as we talked about, 50% of people will have one episode that'll get better, but close to 50% will have a recurrent course, and it's hard to predict at onset who will be which one. So I just wanted to provide some follow-up for this patient. So she presented. She was started on oral prednisone and oral cell sept. She actually did quite well with that. She had improvement in her neurologic status. She did do some physical therapy. And she was really quite stable. She was on a gradual prednisone taper. We saw her in March. At that point, her exam looked pretty normal. We did a wide field FA, which I think will be a really useful modality looking forward in the future. But interestingly, what you saw is you got to the later phases in her wide field FA, though she was asymptomatic, she did have these areas of peripheral retinal vascular staining, which could likely indicate there's still some level of disease activity at that point. But she was completely asymptomatic from a neurologic standpoint and from not having any new visual field defects. So our service here had discussed these findings with the neurology team who was managing her, suggested that it did look like there was maybe still some activity, but it wasn't overly significant that they may want to adjust the IMT. The neurology service took those considerations into effect. They continued to decrease or offer oral prednisone and just keep her on the dose she was on. And she actually did really well. She didn't have any recurrence of her symptoms. She missed two follow-ups for follow-up wide field FAs. And then she presented in November of 2015 with new onset symptoms in both eyes. At that point, she had decreased down to five milligrams of oral prednisone. And when we saw her in November, she had a new cotton wool spot over in this right eye. And then she also had this small cellular retinal artery occlusion that was sort of right near her phobia as well. And again, in this FA, you'll see she has very extensive retinal vascular involvement in both the right eye and the left eye. You can see on her OCT, this new area of arterial occlusion and disruption of the inner retina. So she was again admitted. She was started on oral prednisone, cell sept, and then initiated on IVIG therapy. And then since that point, she's had stable vision. She came in in January to a clinic here. Her pre-auth was not done for FA, so she did not get one. Then she missed her January appointment, so she hasn't had to repeat FA. And the plan from neurology standpoint is to taper off her prednisone until she gets to 20 milligrams and then probably maintain her on that dose. And potentially, if she has recurrent starter on cyclophosphamide as well. So the questions that I had from this case that sort of came up in my mind were, I think the wide field FA is actually, it's not described anywhere in the literature as a possible screening mechanism for SUSEX, but I think it may be, I'd be curious about both retina, uveitis, neuro-ophthalmology's perspective on using it as a monitor for active disease. And if we're seeing changes like we did in March, should we be more aggressive in our recommendations to the neurology team who's monitoring her immune modulating therapy and be more aggressive and encouraging them to either not taper off the steroids or start her on additional therapy at that point? So I'd just be curious. And then the other thoughts were, what's kind of the best service for these patients to follow up at the Moran? This patient's been seen in retina and uveitis and neuro-ophthalmology at various times has missed appointments in all of those services. It seems like it would be good for them to have sort of a consistent person or group to go to. So I would open it to the floor for comments. An area of team approach that you've seen by ENT to follow their hearing. I think they should probably see uveitis and neuro-ophthalmology both. And then neurology. And then the three teams have to put their heads together and say, you know, is the treatment we're doing right? Is it appropriate? What are we going to do? And communication between the services to determine the best course of treatment. This is a rare disease. And so none of us in neurology or retina or neuro-ophthalmology or ENT have enough experience to say, what's the best treatment for a particular patient? And that's why it's best that you need all the information you can get from all these different services. How's the patient doing retina-wise, hearing-wise, neurology-wise, to determine whether or not your treatment's working or not? Part, thanks for your heads. Russell, with the cognitive issues you mentioned, the patients, the no-shows are kind of a red flag in this kind of patient that needs somebody, either a responsible family or something assigned to a writer, because it may not be just a symptom matter. I didn't show up for the appointment. Maybe. I forgot. I didn't remember coming to an appointment. Exactly. Maybe a really sad state of affairs. Yep. You didn't jump on that. Yep, absolutely. To that cognitive issue, when she initially presented in the outside hospital, had she a prior history of cognitive dysfunction? No, she hadn't had a prior issue. No, she had not. They, correct. She had prior history of migraines, and they thought that it was maybe an atypical migraine. But they felt confident with their normal CT scan, and they didn't find any other neurologic deficits. We never wanted to actually arterial wall. There's a lot of updated trinkets of information that we got from that lecture. And I think that updating neurology and BNT and having those discussions, like Dr. Katz mentioned, people can bring in their own up-to-date, and those can be sent papers and data and educate our colleagues about these things, too. All right. Thanks, Dr. Grum. Thanks, everyone. Thanks, John. Thank you. Thank you.