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SNI, Surgical Neurology International, an internet journal with Nancy Epstein, is a Senator-in-Chief, and SNI Digital, an editorially selected multimedia information resource, which is new,
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featuring neuroscience innovations, operative videos, expert interviews, and global discussions for the next generation of clinicians, with James Osborn as its editor-in-chief.
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Together with the Latin American neurosurgeons, sponsor the 4th Latin American International Neurosurgery Grand Rounds held on the last Sunday of each month
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SNI and SNI Digital also sponsor the Sub-Saharan African Neurosurgeon International Grand Rounds over in the first Sunday of every month
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The purpose of these international neurosurgery grand rounds is to expose and provide neurosurgeons with information about global solutions to clinical challenges in neurosurgery.
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The Latin American section is organized by Johan Chokev-Valescaz
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with the help of Estrada Bernard Horhey-Losruff and James Ellesman for an international audience
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This speaker in the 4th Latin American International Air Surgeon Grand Rounds is Juliana Agras-Mengi,
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who is a pediatric neurosurgeon working at the Hospital of Duneos of Children in Buenos Aires, Argentina, talking about a rare and unusual syndrome, which is called the Clove Syndrome,
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and the purpose of the talk is to alert you to the fact that not in every spinal mass is a tumor. Latin American meetings are organized by
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Johann Jochia Velasquez, who is a Peruvian neurosurgeon or a researcher, who is interested and interested in several vascular, skull-based neurosurgeon, interventional endocrinology, and
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stereotactic radiosurgery. He's a PhD which he got from the the University of Narrow Surgery at Helsinki.
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and the Helsinki University Hospital in Finland,
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and he's in charge of the unit of neurosurgery in the regional hospital of Cusco, and still continues his research on oncology, neurology, and neurosurgery.
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Cusco is located in the southern part of
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Peru, as you see in this map,
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Peru is a name that was derived from the Quechua word implying land of abundance and is a reference to the economic wealth produced by the rich and highly organized Inca civilization that ruled the
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region for centuries. Country has vast mineral, agricultural, marine resources, and is served as the economic foundation of it, and by the late 20th century added tourism to become a major
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element in its economic development.
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Favorite destinations of international travelers include Machu Piccho, which is located near the city of Cusco, where Dr. Velasquez does his work
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to hand send me an introduction and so on, but basically as you know, we welcome you all. We are a small group today at this particular hours, hour in the morning in our countries, but this is
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the video that will be, is being recorded, will be uploaded at SI and will be seen, we know that as evidence, but by many more people than the one that we are present now, you know, so it is a
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large number of people will watch this video, is that the platform created for the presentation to show the capabilities and capacities of neurosurgery in Latin America.
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This is being created under the ages of two outstanding persons. I mean, Dr. Strada Bernard and of course, Dr. Jim Hausmann, who are the more democratic neurosurgeons I have seen in my entire
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life, and I had a long life, and I have seen many neurosurgeons, right? So everything that you see that you think is not right, is not correct, just voice it I mean, don't be intimidated by the
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heavy CVs of Dr. Osmond or Dr. Estrada Bernard. So for tonight, for today, we will start, if you agree, with Dr. Juliana Agras-Mengi presenting a usual case, a Zebra case, and then Dr.
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Bertorucci talking about hemispheritomy, Dr. Mengi, as she just introduced herself, is a staff member of the fellow in pediatric spine. at Buenos Aires Student Hospital, and Dr. Bertolucci is
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the director of pediatric neurosurgery at Flenny, the great institution in Buenos Aires. So with no further say, go ahead, Juliana. Share your screen and tell us about your trace.
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Okay, thank you for the opportunity to present this case. Today, I would like to share a challenging and educational case entitled, Not every spinal mass is a tumor, addition in a patient with
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blood syndrome. This case highlights the importance of broad differential diagnosis on multidisciplinary decision-making. As I told you, I involved a group with orthopedic surgeons and
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neurosurgeons.
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Just to talk a little bit about the background, as you might know, the blood syndrome the rare disorder with an estimated incidence of around one million individuals. The
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acronym stands for congenital reformatose overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities. So, take this part of the talk account for the
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posterior parts that we will discuss a little bit of the differential diagnosis. So, it belongs to the spectrum of the disorders caused by somatic activating mutations in the
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PIK3CA pathway that is an abnormal tissue growth and complex vascular abnormalities. Spinal involvement is really uncommon, but when present. It may create significant diagnosis and therapeutic
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challenges, and this is what we are going to see now. The objectives of the talk is first to report the case of spinal cord compression in these kind of patients to discuss the diagnostic pitfalls
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and surgical management and to review a little bit of the pathophysiological and clinical spectrum of this condition. So this is the case I want to share with you Our patient was a 15-year-old girl
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with long, long syndrome and refused lymphon comatosis since she was born. She had a genetically and clinical-established diagnosis with multisystemic enrollment and previous treatments for vascular
8:38
malformation and you might see in this image of the patient.
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Her previous history was significant for vascular disease. since she was very little, beginning before the first year of age. She developed a record reading into cystic vascular cavities, as you
9:02
may see in the right image, that is an MRI, especially in the right vectorial vision, as you may see in the picture. And it's associated with the larshments of this mask And, of course, with any
9:18
little baby. Because of this, she had undergone selective embolization of thin vessels and stage blemcing embolization for these lymphatic malformations, that is the diagnosis of deletions that you
9:37
can see here. And this already reflects the tranecum for aggressive, multisystemic vascular burden of this patient.
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The phenotype of our patients as we might see clinically, we can see an asymmetric heat, thoracic overgrowth, axillary masses, combining fatigue and capillary malformations, hyperpigmentation and
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recurrent skin and soft tissue infections.
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She also has a
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septic shock due to infection of these skin lesions that we can see here.
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She also had a complex scoliosis with a main thoracic curve that you can see of nearly 70 degrees and associated curves like proximal thoracic curves on
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the number that are with a lower degree, but not less important because this makes it really complex. Scoliosis in this syndrome is a tero-schenius and may result from multiple mechanisms,
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including asymptomatic.
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the lateral and soft tissue overworld, vertebrae, or with more information. And of course, a neuromuscular imbalance. That's what makes it complex, particularly. She also had visceral
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involvement. As you can see in this image, with masses in the metastatic vessels, so pleuropominary nodules And also, the adenexal and ovarian lesions. This patient was followed in a
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multidisciplinary group that we have in the hospital. It's a group that during one day, the patient arrives there and different specialities arrives. And toplighter make the necessary studies and
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so But despite having these kind of facilities, the patient have a really irregular follow-up. So treatment with systemic medication as it is seralimos was not initiated.
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So when the patient arrives to the hospital and the pediatricians make the consultation, she presented with a three-week history of progressive progresses worse on the right side
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Neurological recognition showed bright lower limb strength, two out of five, left lower limb strength, three out of five, loss of ambulation, bright leg, hypostician prosthetias, at these six
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sensory levels, urinary incontinence, hyperreflection, clonus, and babinsic signs.
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So this was like a clear picture of thoracic spinal cord compression, and of course an upper motor urinary involvement. So, the question here was, what would be the most appropriate diagnostic
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approach in this kind of
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patients? I don't know if you want here, like, a discussion or shall I continue or we can talk after?
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You
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know, a question is there's one case out of a million This patient must be unique in your experience.
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There probably aren't many, right?
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Yes, it's not easy. The first question
13:28
is the place where this is affecting the patient in the spinal cord and, of course, what is the thing that it's affecting it So, I will go around with what we do, like the image worker.
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One. Yeah. One. One. The brief question. Did. Did the patient had a prenatal diagnosis or when the patient was born? No.
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The patient was born with other previous diagnosis and she was diagnosed during the first month
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of life. Okay, interesting, yeah. The prenatal care of the country, yeah, okay. Go ahead, continue, Juliana. Dr. Patrick, one more question Dr. Patrick, have you seen it in your lifetime
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experience in any case like this?
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No, I don't, is it
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the first time for me? I've never seen this. No, no, no, no, no, me neither Not
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Okay, well.
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Yeah, it's a challenging case through the audit, just this initial presentation is, what am I gonna do, and what am I gonna do first? So tell us what you did. Okay, as you said, the first
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question was, were it's located the compression, and what it's doing it, and diagnosis differences, as you might remember with the acronym of this, of this syndrome is really broad So first of
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all, we realized we made an MRI of the spine, and it was like the key study to define the level of the spinal cord compression. And of course, to characterize the lesion, if demonstrated a
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progressive dorsal epidural lesion, then I will show you, we made a CT, and it was useful to assess the ocean anatomy for, of course, to see if there was any involvement, and also to make a plan
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for the surgery that we were thinking about, but it's another history for later. We also did a subject to post-prime radiology because clinical education was had
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this balance in the
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coronal and social things. And of course, we know that this syndrome was associated with choliosis
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So we did this to evaluate the
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global deformity. And finally, to these kind of patients, we need a multidisciplinary involvement and with the
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theatrics and vascular surgeons and stuff. So this is the MRI of the surgical and normal spraying that shows no relevant. So I'm just going to
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take you to a third neurological presentation that we might see
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this transformation, that sort of information in superpreneas.
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issue, that are the ones that we can see clinically and it's illified dermatosis. The key finding was on
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the thoracic MRI, it demonstrated a lung fever, epidural vision, it's that being from approximately people to 28, more to
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labulated and predominantly hyperintense on two weighted surfaces as you might see here And it produces a numerical theory of displacement and compression of the thoracic spinal cord. So as you may
17:17
see, like very little CSF can throw us over there, the addition up here to
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scan through the neural framiness, you might see the actual sequences. And
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we have here this C, sorry,
17:37
okay always to hear the city that was useful. to see the birth of rhinotomy is we
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need to take an intervention on this choliosis of this patient or in this vision. As the bloke syndrome is associated with vascular malformations, we
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decided
18:05
to realize that I am not clinical, digital and geography and in this case we include vertebral, subclavian and bilateral and docosal arteries from G3 to G2, and we see no spinal artery or venous
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malformations, faecilla or abnormal shunt. So at this stage, we ask ourselves what would be the leading diagnosis or differential diagnosis diagnosis in this case, what do you think?
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If we
18:49
forget that it belongs to a complex mathematical formation and that as a neurosurgeon, I see this image and without the help of the radiologist, I mean, the one, the collateral, right? It
19:06
enhances with the contrast. I will think my first impression, and I didn't see the engine very well, but no need to show will be that this is a form of. is it a tumor, I mean, I will consider it
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to be a tumor, a mass, a tumor, a mass. There might be a pidermoid, one of those nature Forget in that you see that the child has another syndrome, no? In the context of the syndrome, you'd
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have to consider whether it could be. some form of lipomatosis, but you'd expect that
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there
19:50
would be lipoma would be bright on T1 and T2 weighted images. So that would steer me away from lipomatosis. But that doesn't tell me what it is. And it does enhance, does it not Dr. Mingi? No,
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it does not enhance, okay. It does not enhance. We see like around the
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mask,
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some vessels are the one that you can see here, but not the lesion itself. Okay. Of course, we consider fibrous tissue masses, we consider in comatose lesions, as you might think, due to the
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syndrome. Of course, I agree with Dr. Lassarif about this point I think if you don't know the scene from the first thing that you think about this, you know, plus a mass. So these were all the
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questions we made, the Genshe graphic study and we see no vessels there that come as a mission, a chance. So now we need to think what should we do with this vision? How can we manage? What is
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this strategy that we will conduct
21:09
here? Well, it
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looks like we're in these
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stations, that's a progressive neurological deficit. Sorry. No, I was going to go and say it looks well circumscribed. It's an epidural, it looks like it's likely to be a benign process because
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of that
21:36
There are some congenital cysts.
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could fit
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that profile, but I'm
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at the last to give you more definition. Yeah, the caveat here, I don't know if Julianna is addressing later, but it's a
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child, I mean, it's a baby, and you're thinking of a thoracid laminetomino, and
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you have to think how to stabilize that, either do a laminotomy, if possible, but how can you fix the piece anyway? That's not to be by the main concern. And as in the context of scoliosis. In
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the context of that? Yeah, that's right, yeah. That was the point we took all these points of view into account. We make multi-disciplinary discussions, and the decision was a surgical treatment
22:39
treatment of people who are very surgical. spinal cordic compression because the patient had a neurological progressive deficit and we should address that. We need a submission of this section.
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After Soloshika Ben knows this, that can give us some too of what we were dealing with and the evaluation of collaborative spinal stability, as you say here. That's why we make this team when you
23:09
are searching and not searching, because it's not
23:14
just the compression and the intersection of the mission, but also we have a pre-existing scoliosis and this is a little bit more difficult in this place. So this is what we did. The patient
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underwent surgery and the general station, composition, interpretive neuromonitoring in a multi-modal fashion we need a T4 D8 exposure.
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with this final thing, we consider in that point if the anatomy was enough to set the lesion and to see if we were doing. we were
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generating much instability and that's fine. We didn't need to go for lateral India approach So, first of all, the phasochons were inter in the procedure, so we consider not to stabilize the
24:17
patient in this phase because if we had to stabilize to put screws on this spine, we not only needed to stabilize the segment we did in the anatomy. But to treat all these choliosis, you know, was
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a 70 degree court. So, as you might see this image, When we make the anatomy, we encounter an extradural violations, five re-vascular lesions in the spinal canal. We make a careful
24:53
micro-surgical section with a good blend from the grower. As you
25:00
could see, the images, you told this to me later. The
25:05
lesion extended bilateral into the foramia, we could take out this component with a space we have of the laminectomy, where we move it on block, or we send it to pathology.
25:18
The multimodal neuro-surgical
25:25
monitoring remains stable for the surgery, and the patient was extubated and self-intensive perioli.
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So this is the question. What was it?
25:36
The histology demonstrated a fever's tissue containing multiple abnormal vascular channels,
25:43
with thin walls, under it, with thin walls, more caliber vessels, but the
25:49
diagnosis was a combined vascular malformations with capillary, in fatty, that's why it exists in the
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MRI, under two venous components. So
26:10
it was not just our two venous malformations, but I lymphatic malformations also, and that's why in the MRI, I don't know if you remember, it's not like I put it again, the deletion was with a
26:18
smooth and big cysts inside it, and it was really a resampling deletion that she had on this spontaneous tissue.
26:28
Let's see it again a little bit.
26:32
So this part of the deletion has some similarity with the then saturations she had on the secretaneous tissue.
26:47
So, the outcome of the patient, she did really well on the postoperative, she improved neurologically, she regained better lower limb strength, was able to see time with assistance, the pain was
27:03
controlled, and she was discharged with a structured plan of rehabilitation Of course, we did a follow-up, we did a variety showing the expected process for the changes, the lesion removal, and
27:17
the decompression of
27:23
the canal.
27:27
Did you do a fusion and surgery of some kind? No, not in this way, not in this part. And this is kind of the question I would like to talk about, how would you follow this patient, because as
27:43
you might be thinking, okay? Is this patient stable? Is the curve progressing? What should we do here?
27:52
We should follow it clinically, which kind of images
27:57
should we do a systemic therapy?
28:04
Did she have any trouble healing from the surgery? Was there a connective tissue disorder or some other thing that was a problem or an healing or did she heal normally? No, she healed normally.
28:20
This part was doing really well. She had no problem
28:25
with that. Of course, we fear that she had these conditions and the history of the skin infections. It would be really hard that
28:36
luckily she was doing well.
28:41
Strata this is your area of expertise. So what do you what do you do with this this fine? I mean, that's And this is interesting interesting that you you ask and I've done this I've done
28:55
Lamenotomies and lamino plastic in a lot of patients with Dorsal with Dorsal lesions and the in adults and pediatric patients and it's much easier with pediatric patients and it might make some people
28:57
nervous but basically just
29:19
doing Sequential Lamenotomies using the B-1 attachment on a mitus Rex and maintaining Well staying just medial to the facet joints on either side maintaining the inner spine as ligaments and then just
29:33
retracting those elements off to one side Yeah, and when you when you're done just just just putting it back, and they heal well. I mean, they heal very well, and pretty much,
29:47
and followed up when patients like that, you pretty much have the
29:52
full structure healed in, especially in pediatric patients. But I've even seen that in adult patients. So, I mean, the approach that was done was great, and I mean, it wasn't in the scoliotic
30:04
curve, and as you say, you'll have to monitor it, but I mean, that's just an alternative approach that I would have considered. We talked about laminotomy, but we had some doubts about the
30:17
possibility of accepting the lesion fully, because we didn't know if it was in fact a lesion, extension of the neurofromina, we were adapting that. So, we decided to laminectomy at that point.
30:17
Because you have such a ability for the lateral
30:38
aspects, And then that does.
30:42
And as we say,
30:47
we were working in the bishop, the bishop part of the spine,
30:53
and it's 248. We were not going to send you a ritual for sex law spine. We take a watch out, it's not so nice in the spine. Of course, we go there with school sports, and we can prepare to do so
31:09
but we were very keen on it
31:17
So what would be your plan for follow-up of the skeletal structure and integrity over time?
31:31
Of course, when you go
31:37
up to the x-ray of this planet at the time, just your surgery, and then evaluate
31:43
the first couple of levels and see if there is any progression, until the moment you have no progression of the first,
31:51
what was one month, six months, and then a year And, of course, we follow the patient community, the serial neurological examination, we see before knowing session about that, of course, we
31:58
follow the patient's experience, and it's more of the degree.
32:16
doctors that are specialized in these kind of pathologies, because the question was, if the patient should be sort of a mental therapy, like a sewer named, for example, as we said before, but
32:29
it's too little difficult for the patient. For the world, it's not the best one to be parent, doesn't go to the hospital, the amount of time, people like to follow up, it's not as great as we
32:48
want. So in our country, this vacation is not cheap, we're in a public hospital, and it's not easy to
33:01
have this medication. Spring is the patient doesn't go, and that's an attempt to be hospital to bring your follow-up
33:12
Yeah, you see one.
33:15
And I see we have a duet of brilliant UCLA medical students. And I don't have to actually say, but it's brilliant. The other one is Stephen Liu. And with Stephen, we are working on the family
33:30
response to complex spinal cord congenital diseases, no? Particularly doing a fantastic work with Chinese patients, patients in China And what was the family response? Did they have expectations?
33:47
Did they want or they were these wonderful families of
33:53
complex malformations?
33:56
The family was tired, you know? The family was tired, you know? For medical control, to the hospital, they were far away from the hospital going there. It was not easy for them. They also had
34:14
like more kids and mother told us you know entire I need to take care of my other kids too and that's why it was difficult to support the family to to help them you know because
34:32
in the end we have more resources to offer them
34:37
yeah that's right from the word from far away from Buenos Aires right yeah no I mean they are from
34:48
Buenos Aires but not capital Serans that it's a capital city you know but it like two or three hours by bus because they have no means to come here by Tara and it will be the keys here so we have like
35:03
social and economic barriers also to treat the patient yeah again this is although it's at the at the rare case and I remember when I was at UCLA. My letters in pediatric neurosurgery were called
35:18
zebras, because I think that we learn a lot from the zebras. It's not just that the question from the horses, you know. And everybody knows, I also have, Chantin Fetch and all those things, but
35:30
this is a case of the zebras. And the two students who will profit from this, Savi Agarwal, he's looking at the barriers, the economic barriers to care, to diseases, and Stephen is looking at
35:46
the impact on the family, so the family respond to a congenital disease, you know, which are the sequels that the child will have less sequels.
35:59
Can we expect for her to have an independent life?
36:05
The patients, like the way we are following it, when we show her last time being put on a chart, She had a deficit.
36:15
that shouldn't be the assistance to respond, to walk down business, you know, so the expectancy in that time.
36:27
Yeah, I don't know if it's like, will it be impossible?
36:34
I say, okay. So I may have missed it, but did you indicate typically what the timing would be for starting drug therapy with the serolimbus? Also, for people who may not be familiar is also known
36:54
as the brand name is Rapamycin. It's been used to reduce reduction of
37:04
renal transplant rejection issues. But so would you just, the issue would be to just follow this along Would there be a. plan to begin
37:18
the serolimba's therapy at a certain time.
37:26
The therapy for serolimba was brought to the station a long time ago before all these years, but
37:39
the patient didn't come to the hospital from the rain that was falling free, so it wasn't continued, I mean she started and she didn't follow it. So now, to start again with this program, I don't
37:53
think it's really possible as we were talking with the get team, you know Those are the expense,
38:03
they didn't
38:08
attach to the program, it was funny,
38:11
so we have to help
38:15
So, we gave relief therapy without the
38:20
support of the family. I don't like to come before. So, that's
38:27
the problem.
38:30
Okay, I ask a question. Dr. Petrie, have you ever seen a case? Not like this, but I mean, this is an incredibly complex case And if you have in your experience, have you ever
38:45
seen anything with this kind of complexity?
38:54
I don't know. If I understand, I never seen a patient with this complex syndrome.
39:08
It's incredible. Fernando Palacios,
39:15
if you've ever seen a skull vase case or anything with this kind of complexity.
39:22
No, I never seen cases like this. This is the first time. My hospital is for adults. We
39:31
don't have too much
39:35
children's, but in this case,
39:40
I think it's a special case that's very difficult, but we didn't see a page like this. Anybody else on Marcello or Marcello,
39:55
do you ever see anything like this
39:59
thing? I have never seen a case like that, never really. It's a very unusual and complex patient. But also, one interesting thing, and then we can go to the
40:12
Marcello in a lot of time
40:16
Before today, I mean, briefly yesterday, that roughly only 200 cases have been reported in the Italy territory. Being at a population of billion and being one every million, you would expect that
40:30
at least 3, 000 cases or 4, 000 cases are somewhere lost in the world And what happens to those patients, how those zebras are not because, yes, is rare, is one in a 1 million, right? But
40:41
still, so it means that in the.
40:49
United States should be three hundred cases,
40:54
you know, in one million, but Andre, have you ever seen anything like this?
41:04
Okay, never the issues.
41:07
That's so incredible. You have to be congratulated for for undertaking this. And what was this? Did she have any other she had a deformity in her pectoral region, I thought. Yeah, but were there
41:21
any other areas that needed to be addressed, Juliana?
41:27
No, just to
41:30
take home messages, like remember, the explainant involvement is rare. Mostly, I would like to highlight that. The flow syndrome was before part of the graph syndrome that is patient in the
41:45
states that provide this overall patient.
41:49
So probably, it's kind of a deal to see if you want a machine growing, if you want to say. So probably, we have under-diagnosed pollution to a machine growing. And probably, according to this
42:04
other problem, we need to
42:11
think, of course, in these complex cases, we're not simply very aware, try to work in games And, of course, not only
42:23
think of
42:30
us getting sales and investigations. So, I'm sorry, one last question. Was, I'm sure, when everybody just in case must have been discussed widely. Was there any recommendation or that they
42:42
should do nothing and just leave the patient alone?
42:47
It was really difficult to lose power.
42:58
that thing will be reacted to him also, because they say, OK, this is a syndrome. This will happen again if she doesn't receive the systemic education we were talking about, because of this, if
43:05
we are a follower. Is
43:09
it really useful or necessary to treat this? We are right to the conclusion that it was a progressive, really, brought to you, progressive neuroscientists, and the only chance we had to make the
43:25
lives of patients are really a little bit better, was to try this surgery. Of course, to take into account not to do more than it was needed, but not less. So we can't deserve the same function
43:43
or better function what she was talking about, and prevent this from.
43:50
to make a progressive military force this deficit. But it would explain to me that this has happened
44:02
again, that this has happened again, and to all of you, that's not a problem for this to come again, because of the syndrome, that we don't know the extent of
44:21
the treatment that we can't get first next time. All right, do you have any comments about that?
44:26
Or, hey? No. I mean, I just say that, basically, I'm going, but that's why I asked in the beginning that whether that the kid had a prenatal diagnosis that would have decided some conduct or
44:41
not. I don't, I believe, is legally in Argentina this type of tell about the abortion, if it's called tell about it.
44:52
then the second point again is saying that this is not a fatal disease. It's not that if you don't treat that the child, that the child will die in the next month or so. So it's prolonging the life
45:06
of the child. So I'm not if I am answering the question directly but as Madamara once said, you don't answer that the question they ask you, you answer that the question you wish they ask you.
45:29
Hey, very good. Any other questions? We go, we go to Dr. Bertolucci then, Bertolucci. Yeah, here Okay, thank you very much. I mean, we, as we said, Cesar Petre, I are the older.
45:49
Juliana is the yanter and Andrea Servio and Marcello are the Turks. Are
45:60
the guys running the show, no? And Marcello is the director of the
46:08
yanter neurosurgery at Fellenie and also works at the National Hospital Garham and he runs the epilepsy program in both hospitals. Marcello,
46:15
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