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Transcript
Good morning. I’m really honored to be here. Thank you so much for inviting me. I was given two talks, so I’m speaking also tomorrow, and I tried to come up with how best to start the conversation about other potential comorbid diagnoses that can present with a CSF leak patient. I thought it best for today, at least, to sort of describe one of my complex patients because I see a lot of complex patients with a lot of different diagnoses that can sometimes obscure the CSF leak. But I realized after hearing these fabulous talks before me that I probably didn’t have to do that, because they basically describe these patients.
So, this talk just describes another complex patient, frankly, and tomorrow I plan to go into some of the different diagnoses that can explain some of the varied symptoms and some of the obscure symptoms that patients will present with that may not be a CSF leak – or might actually be due to a CSF leak. I apologize for the repetitive nature of this talk compared to the ones that have just been before me, which were excellent, by the way.
No disclosures or conflicts.
So, this was a patient, and I have a whole practice of chronic and complex patients. It’s not a practice of CSF leaks, it’s not a headache practice – it’s just chronic and complex patients that have all kinds of different concerns. This was a 37-year-old male who was referred to me because of refractory migraines actually, which was the specific reason for the referral, but he also had chronic fatigue. He described a lot of different types of headaches that were not migraines and didn’t meet criteria for migraines, but he was described as having refractory migraines, and he had them for five years.
Every time I see a patient who’s had refractory headaches for five years and has already been tried on just about everything, we do for migraines these days, I can’t help but think of the anatomy – that the anatomy is playing a role. He was unable to remain upright for any length of time, which meant that it really impacted his daily life. He couldn’t play with his kids. He couldn’t be in the kitchen preparing his meals. He couldn’t be at the sink brushing his teeth. He couldn’t go for walks. He couldn’t do his job. It really impacted his life, and he had poor quality of life. It was impacting his family life, and so he was very depressed when he saw me.
And I would ask, you know, patients will often say, “I just can’t be upright,” so I think it’s an important question to ask, “What happens when you are upright? What happens immediately when you’re upright? What happens an hour later? Five hours later?” and so on. Usually, they can’t stay upright for that long, but I like to know specifically what they’re feeling. He said he would develop a headache, feel his heart racing, feel bone pain and muscle pain, and occasionally experience paroxysmal episodes of weakness while standing.
He described tinnitus, and I asked, “Was it with your pulse?” He said yes. He had blurry vision, nausea, and occasional vomiting with nausea, though that wasn’t a common complaint. He would flush a lot and said that he would flush even when lying down – it wasn’t specific to when he was standing, but he would flush often. He referred to it as his “nose would leak,” and he had lots of abdominal and pelvic pain, but mostly described lower abdominal pain that was clearly in his pelvis.
Interestingly, along with his headaches, he had neck pain that restricted his range of motion, so he couldn’t look around the room. He had young kids, and he felt that that was a concern, because he had to always make sure his kids were safe. He would describe certain scenarios where he had to abruptly turn his head, and then he would have an abrupt onset of very severe symptoms, that included radiation of pain from his neck down to his shoulders, and his upper back, and his left arm in the proximal section.
He had a history of allergies – a history of atopy, basically – so allergies, eczema. He had asthma as a diagnosis as a kid, but didn’t really have any kind of asthmatic symptoms as an adult, but he definitely had them as a kid. He still had allergies and some occasional eczema. He had a history of two motor vehicle accidents with whiplash injuries, and he also had a history of recurrent infections. As a kid, he had lots of ear infections. He said he had recurrent strep over the years. He was told that he had vector-borne disease, specifically Lyme and, I think it was Bartonella.
He did not consider himself hypermobile. He didn’t feel he was flexible, in fact, he laughed when I asked him that question. Other symptoms, you know on a review of systems, he had paresthesia, he was short of breath, he definitely felt fatigue, he had insomnia, constipation, and after he ate a meal, he felt really horrible. He said his stomach was distended, and it increased the pain. He had leg pain and he had urinary retention, so he didn’t fully evacuate his bladder when he went to the bathroom.
His neural exam was normal. He did have a diffuse rash on exam that wasn’t examined as so; it was a different kind of papular rash. He was told it was a contact dermatitis. His Beighton score was a 5 out of 9. I still do that in the clinic. I’m not a huge fan of the Beighton score, because I don’t think it really tells you about the connective tissue of the patient, but regardless I do it because it is an easy kind of test to do objective that you can record on the chart note. It was a 5 out of 9. He did hyperextend his elbows and knees. He was able to touch the floor without bending his knees. His tilt table test was positive for POTS. His QSART was abnormal. Skin biopsy showed small fiber neuropathy and was positive for synuclein. His labs had an elevated MMP9 and an elevated VEGF. He had normal histamine and tryptase. He did have positive markers for vasculitis. He had an elevated eosinophils, so I followed up with an ECP which was elevated. Whole genome sequencing showed a variant of SCN4A.
He was diagnosed with hypermobile EDS. He was diagnosed with MCAS. He came to me actually with a diagnosis of MCAS already. He diagnosed with POTS, orthostatic intolerance, small fiber neuropathy, eosinophilic vasculitis, idiopathic intracranial hypertension, suspected CCI with IJV compression, and possible hypokalemic periodic paralysis. All of these diagnoses, I mean most of them, I will go into more detail tomorrow. But these were his diagnoses.
So, we did a bunch of imaging because, again, when he was referred to me because he didn’t respond to any of the medications for his headaches, and that really was a prominent complaint of his.
So, I did a brain MRI with and without. There was pachymeningeal enhancement. The cervical spine without, which was done on a separate day – because these were – I just sort of put together several different visits with this patient – showed CCI, where the C1 sat, there was suggestion of compression of the internal jugular vein. That was confirmed by a CTA. A total spine myelogram was without an obvious leak – it was read as normal. A CT cisternogram, which was ordered by a different doctor, an ENT actually, showed suggestion of a leak at sphenoid. An MR of the lumbar spine without contrast showed a tethered cord, and that was read by a different doctor as well.
So, we had repair of the cranial leak, which improved symptoms but did not resolve symptoms. His SFT for his tethered cord was successful, but he developed horrible post-op complications that kept him bed-bounds for months. He had a CSF leak at the site of the SFT. He felt worse. He ultimately got better. He re-tethered. He had repeat SFT with a prophylactic patch this time. He felt better, but symptoms still persisted. His ICT (invasive cervical traction) was positive for pathological cranial cervical instability. His ICP bolting was with increased pressure readings that were greater when he was lying down versus sitting versus standing. But all were increased. His transcranial dopplers showed low velocities.
The patient underwent a C1 shave for decompression of the internal jugular vein compression. Intraoperatively, the surgeon noted what he referred to as a “chunky styloid,” and that was resected as well during that time. Symptoms further improved post-operatively, though not as severe, returned three months later. He considered fusion because he had never actually had the surgery for the cranial cervical instability. He had only had surgery to correct the internal jugular vein compression. But he did not, at that point want any further surgeries – and who can blame him? So, he decided to proceed with pharmacological management and other non-surgical kinds of management.
These were just a list of the medications that he was on at the most recent visit. We had tried a ton of different medications, and there was a lot of trial and error. Sometimes they would work for a brief period of time and then they would stop working, and sometimes they didn’t work at all. He would sometimes have side effects. We’d have to try compound some meds – but as you know, not all meds can be compounded. He went for injections for the CCI because he really wanted to correct that, because that was the leading thought contributor to most of his symptoms. Those injections don’t’ correct the anatomy, as I always tell patients that. I think that they can sometimes minimize the symptoms by theoretically improving the tone of the ligaments that are holding the joint together, but they don’t correct the anatomy. So sometimes patients have some relief following the injections, but he wanted to avoid surgery, so he went for the injections, and they did not help.
He did all kinds of other modalities. Ultimately, I did get him approved for IVIG, which did seem to help. He’s still on it, but it also plateaued in terms of its benefit. He also went for several rounds of plasmapheresis. So he improved for four months, but symptoms returned. An MR of the total spine of the myelogram again showed a leak at T6 to T10. The reason why I had ordered this at that time is because he came with a decent additional history. He was moving boxes and then all of a sudden had an acute onset of pain and then he had symptoms. So, I thought, okay, well let’s see if he popped a leak – so he did.
An MRV of the abdomen and pelvis around that same time – again, these were over several visits – showed a left iliac vein that was compressed by the right iliac artery, so he was diagnosed now with May-Thurner syndrome. He had a blood patch – no improvement. He had a second blood patch. He had improvement. He had improved headache, fatigue. He was able to be upright for longer periods of time, though he still had some symptoms, but mainly due to the other diagnoses that existed. Continued pharmaceutical management added mitochondrial protocol because I had done a muscle biopsy at this point and had found some problems with his electron transport chain. So we added some mitochondrial support. He was referred to a vascular surgeon for the May-Thurner syndrome, and the current plan is stenting.
He is currently doing okay. He’s continuing to manage all of his comorbid diagnoses, including the IIH and neuroimmune dysregulation. He has had flares and has had repeated imaging for a leak twice, but no leak identified. And that is the description of that very complex patient. You can sort of see how this journey goes. It’s sort of never this just one you know “we figure this out, oh here’s the problem let’s fix it, and now you’re all better and all ready to sort of enjoy life.” Because that just does not happen in the complex patient population. It’s always a lot of monitoring and surveillance. These comorbid diagnoses often present a lot of the disability that they exist with on a daily basis.
And so, I think as an overall plan, it’s important not only to correct whatever anatomical diagnosis you find, including the CSF leaks if they exist or if you can identify them, but certainly any other of the non-anatomical diagnoses that really do impact their daily life. So, that’s the description of the patient. Like I said, I’ll go into further detail tomorrow, but I thought that was a good way to start.