 Next we're going to be hearing from Carrie Wilson. She's a child neurology resident who's been rotating on the neurophemology service here And she's going to be talking about a case presentation. So let's hear it. Hi, nice to meet you So Thank you. Yeah, my name is Carrie Wilson. I'm a third-year resident, but a first-year pediatric neurology fellow at the U and I'm going to be presenting a pediatric neuroophthalmology case that I encountered Unfortunately, not on the neuroophthalmology month, but apparently they're everywhere So my case is a 17 year old male who does have a history of the Shets disease And he was coming in saying that he cannot see from the bottom part of his left eye he two years prior to this incident had completely lost vision in his right eye over time and he's now presenting with two weeks of Decreased vision in the inferior visual field of his left eye The pain the vision loss was initially initially blurry, but he's had no pain or other symptoms and The only other proceeding event was that he was hit by a car while on his bicycle one week prior to the vision loss He had no loss of consciousness but he developed a headache after that time which has been persisting and actually worsened on The day that he started developing vision loss in his left eye So this is just a quick review of the retinal photos of his right eye You can see the sense of damage there and that was actually Thought to be due to a central retinal artery occlusion so in terms of his past medical history he was Extensively worked up at the time of his right eye right vision loss and at that time almost all of the testing was negative except for HLA B 51 positive which Some of you may remember is associated with Bichette's disease as well as some oral at this ulcers Which is why he was diagnosed with Bichette's two years ago He had a lumbar puncture performed with mildly elevated CSF protein, but no other symptoms or medical history There's no family history in this patient No one else with autoimmune disease. He's been managed on Plaquenil since the vision loss two years ago Which has been managing his at this ulcer is quite well So prior to the university hospital admission. He was admitted to St. Mark's in Idaho Where they started IV high-dose IV steroids to try to decrease some of the inflammation They thought was causing his vision loss in the left eye Unfortunately, he was not responding and therefore start on aspirin Aspirin Trentile and Bramona Dean Unfortunately, they thought that his vision loss was worsening and he was transferred to University Hospital When we met him we almost immediately sent him to the Moran Eye Center for evaluation by one of our neuro ophthalmologists Who had been in contact with one of his ophthalmologists and rheumatologists in Idaho so? consistent with prior exams his right eye showed visual acuity just to hand motion and On the left is 2015 He did have a right afferent pupillary defect color vision in his left eye was normal Slit lamp exam was unremarkable and MRI brain and optic nerves were surprisingly normal on The Humphrey visual field test you can see that he has in fear of visual or In fear visual field defect argue it defect And then if you see it, so this is the retinal photos of his right eye from September This is different from the one that I showed you earlier from two years ago And this one of course is just showing severe optic nerve Pallar and some arteriolar attenuation throughout the posterior pole And we think that the most likely etiology although we didn't see the patient at that time was due to a central retinal artery occlusion So then you look at his left eye and you can see in the superior portion Of his optic disc some pallor as well as mild optic disc edema some scattered hemorrhages Superiorly and otherwise normal arterioles On floracy and angiography. This is 12 seconds in and you can start to see some Well, there's the optic You can see the optic nerve here. This is his left eye only the inferior portion is starting to enhance Early after the dye is injected which is abnormal and even as the chloride continues to brighten The inferior portion of the optic nerve is the only part that's enhancing the superior portion remains dark and as we move through This is a little bit further in again The central retina artery appears to be okay because there's continued enhancement of the vasculature But not the superior portion of the optic disc and it's not till three minutes and finally at seven minutes into this that the optic This really starts to brighten So after discussion With a few different subspecialists It was identified that this appears to be an atypical presentation of neurobashets disease He has a vaso-occlusive pattern in the posterior ciliary artery causing that Decreased perfusion to the superior left optic nerve and then of course his continued optic nerve atrophy on the right so I think why To understand why this is atypical we have to understand what a more typical course of the shet's disease would be and And This is just a review of the diagnostic criteria So usually you'll have recurrent oral ulcers plus two of genital ulcers eye involvement usually anterior posterior uveitis Skin lesions and a positive pathology test about 10 to 20 percent of these bachettes disease cases Will be classified as neurobashets although that number might be higher in the pediatric population So neurobashets is sort of I separated into three different areas You have either central nervous system or peripheral nervous system involvement and within the central nervous system You can either have parankamal involvement, which is typically of the brainstem, but can include hemispheres spinal cord or Meninjo encephalitis One of the typical symptoms of that would be headaches, which this patient did have Unfortunately, well fortunately for him, but unfortunately for understanding his pathophysiology He had a negative MRI, but we did have this history of elevated CSF protein And then there's also a Separate entity within CNS disease, which is the neurovascular bachettes disease and there's some debate as to whether or not this is just Symptom of the vasculitis that we know is involved in bachettes Versus is this actual central nervous system involvement, but at this point It's still considered neurobashets if you have a form of arterial occlusion like our patient did and you can get stroke like symptoms from that or optic nerve Decrease perfusion of the optic nerve like in our patients and Then to remind us of the typical ocular manifestations of bachettes disease since the eye is one is the number one organ involved that Typically, you'll see uveitis that can be anterior or posterior And posterior uveitis is actually seen in 75 percent of pediatric cases Vasculitis or a periflebitis is seen in approximately 80 percent of bachettes patients And you can see edema especially for example on fluorescein and geography You can see edema vascular leakage vascular wall staining with forms of obliterative vasculitis macular edema is a common complication and Neovascularization is often seen with episodic vaso occlusion So none of these eye findings were actually seen in our patient, which is part of what makes him a more atypical presentation so understanding why he had this arterial occlusion if it's not a form of vaso occlusion or spads or a Vasculitis or spasm There are theories in looking at the pathophysiology of the shet's disease That's still under review that it could be an immuno-goblin and complement deposition within the vasculature It could of course be a clot secondary to endothelial damage and inflammation with his autoimmune disease and as we know he had this head injury and How that exacerbated his symptoms it certainly correlates in time and his symptoms, but it's unclear if this was How much of a problem you know how much of a cause this played for this patient's symptoms So moving forward with our management of him the general goals of treatment of the shet's disease is during an attack of course you want to decrease the acute inflammation if it's present and Moving looking forward you want to decrease severity and frequency of attacks as well as decreased complications related to them Some patients for example if there's anterior uveitis you might be able to start with topical steroids if there's more significant symptoms or posterior uveitis or Symptoms like our patient presented with you'll start with systemic steroids with a very slow taper Unfortunately, our patient did not respond to IV steroids and therefore the next step would be moving towards immunosuppressive or immunomodulating therapy So for our patient MB We started in flip semab after consulting with our rheumatologists as well as neuro ophthalmologists This is a TNF alpha inhibitor and it's been shown that in some case in many cases of the shet's patients Do have elevated serum in aqueous levels of TNF alpha, which is why they think this might be a new or more effective therapy for many of these patients with severe symptoms and The goal is to decrease frequency of attacks Which this has been shown to do in many of the patients, but of course it's best in combination therapy and This poor patient is going back to Idaho on in fliximab Methotrexate aspirin a steroid taper plaque when they'll promote edema and Trento He of course has close follow-up with his rheumatologists and a neuro ophthalmologist So overall just reminding us to think about the shet's disease especially Since the eye is the most commonly involved organ typical symptoms are oral ulcers genital ulcers vasculitis in any part of the body and typically uveitis Steroids are a first-line treatment, but often in severe cases you have to move to him, you know modulation and Especially in the pediatric population Well, you don't want to go testing everyone for HLA B 51 for every headache often in the pediatric realm Neurologic symptoms could be the first presenting symptom of one of these autoimmune diseases or bachette's disease And so thinking about neuro bachettes in any patient with headaches Yeah, you know stroke at a young age Intercranial hypertension sinus venous thrombosis or under other unusual neurologic symptoms so and working with colleagues in rheumatology and neurology and ophthalmology you to Utilize the multidisciplinary team approach is best for the patient So these are some of my resources and that's it it is Right Not much of it. He was on as a therapy before I came in. That's right. We switched it to methotrexate 17 Do you want this? Yeah, sorry, I can't point. Oh Hopefully oh, I didn't he's white English Scottish background not typical Yeah, what you'd think kind of that silk row of the Shets disease Which is also interesting looking trying to look up information because the majority of the research is not necessarily being done here Where we don't see it as commonly? Japan Turkey In the middle of Idaho Yeah, it's a tricky diagnosis to make And I think just to go back to your initial question about the prognosis for this patient and it certainly because this is such an unusual Presentation of bishats. It's hard to know, you know, just what else sort of he could have a schemia to and why of both of his eyes been involved, but Once you start having eye disease and if you're a young age and if you're male, these are all poor prognostic Factors and it's unfortunate for him, but it's I Mean, that's why I think we're doing such aggressive treatment at this point is to try to save what? You know the quarter of his vision that he has left and the visual acuity is still good thankfully on the left eye, but I think 75% of bishats patients once they start having eye symptoms are blind within three to four years And it's usually bilateral Thank you