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Transcript
Thank you very much for your kind introduction, and I’m happy that I can talk about the part of the disease that I know most about, which is the clinical presentation of SIH. I have no direct relevant conflicts of interest. Our research in SIH is funded by the Amsterdam UMC with an innovation grant. My other research funding is nonrelated to the topic.
I’d like to discuss with you the spectrum of spontaneous intracranial hypotension by presenting some cases we’ve seen in the past five years. The first case is a 50-year-old woman who presented to the emergency room of another hospital with orthostatic headache and bilateral horizontal diplopia. She had an unremarkable medical history, and at the moment she was presented, she told she had two weeks of orthostatic headache. She woke up with it in the morning, felt normal, got out of bed, got a terrible headache, got back into bed, and was completely normal again. She was kind of puzzled by this because she felt fine when lying down, but the moment he got up, she got severe headache.
She had no prior trauma or other significant events. And after one week of this headache, she noticed when she looked to the left, she had double vision. Her husband noted she got a bit slower when speaking and responding. She’s usually a very active person. She’s a manager in a very good company. She’s married, has two kids, is very active in running and sporting. And at that moment, she was quite slow.
Neurological examination showed she had her eyes closed but otherwise followed commands and was oriented. She was a bit slow, bradyphrenic, and she had a bilateral abduction disorder caused by abducens nerve palsy. The CT showed bilateral subdural hygroma and also signs of brain sagging.
So if we look if this is a typical presentation, there is a very nice review from Wouter in the New England Journal of Medicine from three years ago or four years ago. And actually, when you look at the table of clinical symptoms in this very nice review, you see the most common symptom is actually headache, and almost all patients have headache. Orthostatic headache is the most common form. But what we see also is that during time, if the disorder exists for a prolonged period of time, it can transform into a more continuous headache. And also, reverse orthostatic headache has been reported. Because of traction on the vestibulocochlear nerve, I think the symptoms of the vestibulocochlear system are also quite prominent, with dizziness or vertigo, muffled hearing, ear fullness, tinnitus. Well sounds can be either too soft or too hard, with the hypo- and hyperacusis. And other relatively common symptoms are nausea, vomiting, neck pain can occur, fatigue, and also visual symptoms.
And there is also a category of very uncommon symptoms, and actually this combines disease presentations like superficial siderosis — which is not actually a complaint — but other things like back pain, trouble smelling, they’ve all been reported but quite rarely.
However, if we think about SIH, you always have to think: how do you define the disease? And in Wouter’s article, I noticed it was classified by the classification of the International Headache Society. And to fulfill the criteria for spontaneous intracranial hypotension, due to these criteria, headache is an obligatory symptom.
In my experience in the past years, we quite frequently see patients with spontaneous intracranial hypotension without headache. My estimate would be it’s about 10% out of 200 patients we’ve seen in the last years. The presentation can be orthostatic symptoms — but then tinnitus or hearing loss, gait disturbance of course bibrachial amyotrophy, cognitive impairment — but also patients who only experience a transient loss of consciousness with Valsalva maneuvers. And in such patients, the diagnosis is usually made after the MRI scan, and then it’s an unexpected finding. We relatively frequently get a patient from the ENT physicians who come there with progressive hearing loss, and then the MRI shows signs of spontaneous intracranial hypotension.
So about the clinical presentation, we always ask whether something occurred at the moment the symptoms started. And also, a very nice article by Wouter. It’s a bit small, sorry for that, but it shows that in two-thirds of the patients there’s no precipitating event. So we ask about it, but usually people kind of get scared. They think, “Well, I just picked up something and then it started, so I shouldn’t pick up things anymore.” There are actually quite normal activities that can elicit these symptoms. And if you categorize it, there are three categories that are associated with the start of the leakage, which is positional change — like picking up empty bottles — Valsalva maneuvers like choking during laughing or uncontrollable crying, which are both ends of the spectrum I guess, and also minor to moderate trauma, with both a literal roller coaster ride and a figurative roller coaster ride.
So this patient, she was diagnosed with spontaneous intracranial hypotension. We performed, at the other center, an autologous epidural blood patch, which only helped for two days. One week later she got progressively slow in her mental status, and she actually almost went into a coma. She was transferred to our hospital. We did a digital subtraction myelography that showed a leak at the thoracic 4-5 level. By the way, here are the increasing subdural hygromas. Here is the epidural longitudinal CSF collection. She was operated on, and two weeks later she completely recovered and wanted to go back to work. And six weeks later, when I called her to ask how she was doing, she was already walking in the Alps again.
So another patient with a common typical presentation. I’m not sure whether you experience this, but as a neurologist specialized in also CSF hypotension, we regularly have patients in the waiting room who are just — you call them and then someone gets up from the ground. They’re just lying flat because getting an inch above the ground actually exacerbates their symptoms dramatically. So this patient was lying on the ground in a waiting room. I transferred him to my room where he was lying on the examination bed, and he told us he had severe orthostatic headaches for three weeks. Changed hearing. It started when he was swimming lanes, and his partner noticed that he slept a lot ever since the headache started. He slept for 20 hours a day, had apathy, and the MRI was consistent with spontaneous intracranial hypotension. An epidural blood patch was performed on two levels, and he completely recovered within days.
So those are the real typical and common presentations. But I’d like to move on to the less common but typical presentations. So this is a 36-year-old male who got progressive paresis of both arms since five years, and he was diagnosed at a neuromuscular clinic with segmental spinal muscular atrophy, which is kind of similar to ALS but located only to the torso, to the arms. He had no headache, no arm pain – which can be a differential diagnosis of amyotrophic neuralgia. But because there was no pain, no sensory symptoms, it was thought it was a motor neuron disease. The EMG showed denervation, which was positive for the criteria for ALS. But also, a cranial MRI was performed, which showed subtle signs of intracranial hypotension. The spinal MRI showed no abnormalities. And the myelography showed the CSF-venous fistula. So we performed an embolization, and his symptoms stabilized, and he had a little bit of recovery.
So this is a less common but very typical presentation of SIH. In the past five years, we had 11 patients, of which most were male and with bibrachial amyotrophy, and only two of them remembered an initial episode of headache.
I looked back at the presentation Wouter gave two years ago in Hawaii, and they had 20 patients in 16 years there. So it’s relatively rare, but we see it – well, I think relatively often. That’s maybe also because we have a large neuromuscular clinic. The symptoms are a progressive paresis of both arms, mainly proximal, with muscular atrophy fasciculations, and almost all of these patients initially had a diagnosis of neuromuscular disorder. Because of that, the symptoms — well, it takes a long time before it gets recognized.
Nine patients had a SLEC – longitudinal epidural CSF collection. One had a CSF-venous fistula, and one patient had a Myazaki syndrome, meaning that she had a ventriculoperitoneal shunt which was over-draining. This caused increased swelling of the venous plexus in the neck, leading to a myelopathy and symptoms of the bibrachial amyotrophy.
Another less common but typical presentation was a 70-year-old man who presented to us with a progressive gait disorder and hearing loss. He had a bilateral subdural hematoma 12 years or 10 years before, but also at that point, no headache. He was sent to us from the ENT specialist, where he was for the increasing hearing loss, where they saw superficial siderosis – which can be seen by the black layer surrounding the pons. And also, you can see on the susceptibility-weighted imaging that there’s quite a lot of black artifacts, which is all blood.
He had a longitudinal epidural CSF collection. We performed the myelography, which showed a leak at the T3 thoracic level. He was operated on. His hearing did not improve, but his walking did. And this is his MRI, which showed a very extensive black layer on the outside of the spinal cord. Here you see the epidural CSF collection here on the axial images. And this is a bit difficult to see, but the leak was here.
So we see this also quite regularly – about 5% of our population. Patients with hearing loss, mainly cerebellar syndromes, pyramidal or other long tract signs. They usually present to us at older age, have a long anamnesis of years. And of course, there is a differential diagnosis in these patients with vascular malformations, neoplasms, and if you look at the older literature, most of them are idiopathic. But I think many of them have undiagnosed spontaneous intracranial hypotension.
Next less common but quite typical presentation is a 50-year-old woman. She was referred because of headache and cognitive decline. She had apathy, lack of initiative. She needed help in her activities of daily living from her 80-year-old parents. She was disoriented, lost her way, and also lost her emotion. She couldn’t respond in an emotional way to anything. Neurological examination showed severe bradyphrenia. She didn’t know what day it was. She could repeat some words but did not recall several moments later. And she had a cognitive screening test, the MOCA, of 22 out of 30, which actually classifies as having a dementia. We performed a neuropsychological evaluation, which showed she mainly had short-term memory problems with severely reduced memory imprinting.
And then we performed the epidural blood patch, and she was completely normal again cognitively. She did still have some headache, for which she was later on — we proceeded to the myelography, and it showed a type 2 leak here at the L1 root level. She was operated on and improved substantially, although not completely.
So cognitive disorders in CSF leaks — I think they’re also — well, out of these 200 patients we’ve seen so far, we had this at least five times. It’s now called brain sagging dementia. And important symptoms are fatigue/hypersomnolence, behavioral disinhibition, patients can have severe apathy, loss of empathy, and also hyperorality — if you want to put stuff in your mouth. They can have repetitive behavior, and often the clinical picture can be confused with the behavioral variant of frontotemporal dementia. But of course, it’s good to realize that this is a reversible cognitive disorder. And I think it’s getting recognized more often, especially since everyone at the dementia clinic gets an MRI nowadays.
Finally, I come to the less common and also not very typical presentations. This was an 80-year-old woman who had vertigo and hearing loss but no headache. She went to the ENT doctor. She got an MRI. It was consistent with spontaneous intracranial hypotension. And when she got the epidural blood patch, her hearing returned for a week, and then it got worse again.
In this patient, we performed two myelographies but did not find a leak, regrettably. And every time we did the myelography with the infusion of the saline and the contrast, her hearing got better for a couple of days and then it went down again. So now we performed a new epidural blood patch, which caused direct improvement, and — well — still we’re kind of struggling with this story, but it was very interesting to me that hearing loss can be reversible in such a short time when it’s due to spontaneous intracranial hypotension.
Another not very typical presentation: she had orthostatic pulsatile tinnitus and hearing loss as the only symptom of spontaneous intracranial hypotension. No headache. And when she was lying down, she did not have any symptoms. Just the moment she got up, she got this tinnitus, and her hearing got muffled. The MRI again was consistent with spontaneous intracranial hypotension. Epidural blood patch did not work. We did find a CSF-venous fistula at the thoracic 5 level, for which she could not receive embolization because of the local vasculature, and she was treated neurosurgically and is gradually improving. Just going to show you the video of the myelography. She has many cysts, but the fistula is actually over here.
So to conclude, the clinical spectrum of SIH – you have typical common symptoms, which is a subacute orthostatic headache, which is usually accompanied by hearing and equilibrium disorders. Sometimes there are other symptoms like fatigue, somnolence, apathy, and difficulties concentrating. That is the most typical common presentations.
Of course, there are typical but uncommon presentations like the bibrachial amyotrophy, the superficial siderosis, and the brain sagging dementia. In my experience, headache is not a prominent feature in these patients, and often it’s very slowly progressive. So it takes a long time to diagnose. Often there’s a delay in treatment and diagnosis in these patients.
And the last cases I present you are quite untypical and uncommon, but I would say if the MRI shows spontaneous intracranial hypotension signs, it probably is. So with that, I’d like to thank you for your attention and hope you enjoy the rest of the course.