 So thank you guys for giving me the opportunity to talk. I'm Nick Gambo. I'm one of the neurosurgery interns. And I'm going to present a patient of Dr. Warreners. So this is a 45-year-old right-handed woman with the history of cartaginous syndrome who presented to a clinic with one month of constant mass of headaches with vertigo and one month of worsening memory. I've noticed she'd had basically chronic headaches her whole life that were whole cranial and occipital quality kind of varying and acutely worsening. She rated them as 7 out of 10. In clinic, they were ranging from 5 to 8 out of 10. She also noted one month of whooshing sound in her ears which she'd had before and said her brain felt like an etch-a-sketch. She also reported a couple of recent episodes where she was having some synesthesia, basically seeing colors when she heard music. So past medical history is pretty extensive here. The things to take away here are cartaginous syndrome, notably the sinus inverses, her congenital hydrocephalus from aqueductal stenosis, her panoply of VP shunt revisions, third ventriculostomy, and an aqueductal stent. She had chronic headaches, optic neuropathy, seizures, some psych history. And that's pretty much all I mentioned. Social history, not contributory. And again, lots of medications for anxiety, for pain, for headaches, and psych meds. Her general physical exam was pretty much basically normal. Neurologically, she was anodotinous 4. Cranial nerves were all intact, except for what I'll mention in the opto exam. Motor and sensory was intact, and reflexes were 2 plus throughout. Tenometry was equal in both eyes. She did have this afferent pupillary defect in the left eye. And that's some slight anisochorrhea. Oh, not technically. On slit lamp exam, she had some trace injection and temporal pinguecula in the right eye. And she had some nuclear sclerosis in both eyes and also had anevis at 7 o'clock. And then on fundoscopic exam, she had basically some pallor temporally in the left eye and a cup-to-disc ratio that was slightly less in the left eye here. This is her visual field testing. And I'll show you her previous visual field testing. But this is actually improved from previously. She has this partial arcuate defect in the right eye. And then this was actually, you can see it previously, more of a quadrant defect on her previous exam back in 2015. So her vision was getting better. That's basically her OCT-RNFL that was largely unchanged from her previous exam. You see basically some retinal thickening bi-temporally, as well as superior and inferiorly, bilaterally. And this is her MRI of her brain. So you can see here that she's been surgeries pretty extensively. And I'll show you some kind of snapshots of all her shunt tracks here. So these are kind of her current shunt. So she has a right frontal shunt that kind of goes into the temporal lobe here, where she had developed a cyst previously. And then she had also a right frontal approach catheter. You can see the entrance of the ventricle here. It's just for your curiosity, since we are talking about Cartagena syndrome and primary ciliary dyskinesia, you can see the classic findings on abdominal CT of cytosine versus. So I'll talk a little bit about Cartagena syndrome briefly here. So Cartagena syndrome is actually a subset of primary ciliary dyskinesia. It's characterized by triad or tetrad in some patients of cytosine versus chronic sinusitis, chronic bronchiectasis, and infertility. And actually only represents about cytosine versus is only present in about 50% of patients with PCD. It has an autosomal inheritance pattern in kind of taking you back to your medical school days. This is actually due to a defect in the dynein protein that is responsible for ciliary function. This is an animation of that protein that basically shows kind of transports these vesicles towards the nucleus as opposed to the kinasein that transports it in an enterogrid fashion. And it's kind of said to walk like a drunken sailor here. So demographics, it's a very rare disease. It represents a prevalence of, sorry, about 1 in 20,000, 40,000 kind of upper estimates of 1 in 120,000 is what I saw. Has no male or female predilection. And the natural history really, they talk the most in the literature about bronchiectasis and kind of the chronic progression of that disease, as well as the chronic sinusitis, which a lot of the fatigue and headaches that these patients have and present to medical attention for. A lot of their symptoms are attributed to this. There are some patients that have been shown to have hydrocephalus from cartaginous syndrome and PCD. And basically, the thought is this is due to impaired ependymal cilia. There's other associated findings like infertility, which is classically more common in males. But females also have about 50% infertility rates due to impericiliary function in the fallopian tubes. And then again, recurrent otitis media. So they have a normal lifespan, typically. They have kind of a more chronic or slower progression course of their bronchiectasis when you compare it to other diseases like cystic fibrosis. So again, the treatment of cartaginous syndrome, because it's so rare, it's really based largely off of cystic fibrosis literature. And they really focus on chest physiotherapy and those basically symptomatic control. So I'll talk about a couple studies briefly. So this is a study out of UCLA back in 2002 that basically postulated that this clot in one protein, which they found to, it's a structural protein involved in tight junctions, typically. Well, they found it to be highly expressed in the retinal pigment epithelium cilia. And it wasn't present in other cilia, like in the gut, in the airway. And so they postulated that this might be important for retinal development. That kind of has sparked some other projects that are not as convincing. But this is a case report, basically, of a 55-year-old patient who had chronic-angle glaucoma. They had some glaucoma just copying drusen and retinal pigment changes that were consistent with macular region. They thought that this actually, these ophthalmologic findings, is kind of poorly supported in their discussion. But they attributed these findings to the patient having Cartagena syndrome and kind of referenced back to this article for the development of the retina. And this is another paper that also kind of referenced this original article. This is a small case control study in 2011 by Hoffman et al. that basically looked at the nerve projection fibers from the optic nerve in patients with KS and PCD. So their thought was, is because the clotting protein was expressed at such high levels and so exclusively for retinal pigment epithelium, that obviously patients with KS and PCD would have differential projection fibers. And so they looked at visual evoked potentials. They basically calculated the difference in the potentials and looked at the tractography, essentially, of the visual system. And they found no significant difference, but still published the results. So kind of back to the original case, there doesn't really seem to be a whole lot of convincing evidence that Cartagena syndrome is actually significantly associated and predictably associated with ophthalmologic findings. In our patient, I think that the most likely explanation for her visual field deficits was due to her multiple shunt failures, about 15 in her lifetime. She'd had multiple surgeries for those shunt failures. She'd had complications from those shunt failures. So I think that was probably the likely contributing factor. And with reference to her headaches, her presentation does sound a lot like a shunt failure, but she had actually had a shunt tap in clinic neurosurgery that had an opening pressure of about 18. So even though this is kind of a classic presentation for patients who come to the ER with shunt failure, but kind of the gold standard is tapping the shunter, getting an LP with an opening pressure. So we think that a lot of her headaches were probably due to basically chronic sinusitis and her history of chronic migraine. This is my references.