[Music] so i wanted to uh thank you guys for the opportunity to present an overview of spinal dysrapism something that's near and dear to many pediatric neurosurgeons practice and heart in general and i'll touch on a few of the topics i think you're going to hit in later lectures but not to any meaningful degree so hopefully it'll just scratch the surface and get you thinking a little bit um so uh here are my disclosures uh none of which are pertinent to any of the topics i'll be talking about today and uh just kind of a brief outline this comes from some of the materials i was given so we'll talk a little bit about the pathophysiology of spinal dysrapism and including some of the major embryological processes this isn't going to be like your ms1 ms2 embryology course but just kind of general ideas and themes when you think about neural tube defects as it relates to surgical anatomy and management so we're going to talk a little bit about epidemiology and natural history of the main categories of spinal dysrapism and we'll talk about the diagnostic evaluation not in specifics but in generalities because you'll find for many of these kids the the theme is the same and some other clinical and radiographic features that we look at certainly go along with that we'll talk about some of the main patterns of presentation symptomatic versus asymptomatic and talk about treatment options and specifically when you should not treat and just observe so um when we talk about spinal dysrapism really the term spinal dysre dysrafism is kind of a blanket and for lack of a better term and so it's kind of a past basket term right so uh we think of things like neural tube defects and and when i talk about neural tube defects these are really congenital anomalies with defects in the dorsal midline structures and the dorsal midline structures include neural tissue dura muscle bone skin and along with these blood vessels that are associated with all of these structures and the primary embryological defect or failure is because of incomplete neural tube closure so as you all know neural tube closure occurs really during the third or fourth week of life and with neural tube defects there can be a wide range of presentation and severity and as a result there's a wide range of neurological symptoms and potential deficits and so that's why seeing the patient and evaluating their neurological function is really really important uh these most commonly involve the lumbosacral spine and the incidence of you know again this this kind of uh all-encompassing term of spinal dysrafism is really 0.05 to 0.25 per 1000 live births annually so when you think about the impact of of spinal dysrapism and and what our role is as pediatric neurosurgeons in diagnosis and management you really want to make a a correct diagnosis because that really has implications in terms of surgical treatment and you also want to consider the potential management options the potential surgical treatment and education and counseling on the potential need for lifelong care which is super important when you talk to these to these families excuse me so when i think about things i like to make things as simple as possible um and so when you think about spinal dysravism there's all kinds of categories and uh different ways of thinking about things in terms of embryology and um subsequent management presentation uh cell lines things like that but i like to think of these in a very simple way uh in two categories so open or what you might have known as spina bifida aperta and then there's closed which is spina bifida occulta okay so i think about these things as open and closed and if you think about that from a surgical standpoint it makes things very simple for you so this is a more complicated table but it's kind of been broken down in a way that we look at open and closed so we're going to start off by talking about open spinal dysrapism and the most commonly seen open neural tube defect or open spinal disrupt uh dysravism topic is myelomeningocele and that makes up 98 percent of open spinal dysrafism cases that we see other ones include a myeloma myelocell a hemi myelomeningocele and a hemi myelocell i'll tell you the bottom three i have never encountered in clinical practice or in training um closed spinal dysrafism will go through these categories a bit later on but i want to spend a majority of our time today talking about myelomeningocele so when we talk about normal embryology of the spine the most important process that we talk about is neuralation which is really fancy for development of the brain and the spinal cord when you talk about closure of the open neural tube it typically happens first in the upper cervical region and then it extends down to l1 l2 and then it comes back ross rostrally towards the nasion these these kind of slides here show you that the general uh embryology of this area where you have a flat neural plate that's surrounded by ectoderm and as this process happens that neural plate folds and that ectoderm comes into a position that's superficial or superior and the third plate shows a normal neural tube that's completely closed surrounded by neural crest cells more superficially and then the ectoderm on top of that now primary annihilation describes that the term for the spinal cord formation all the way to the lower lumbar level and abnormalities and primary neurolation lead to myelomeningocele formation lipomyelomeningocele formation intraspinal dermoid and epidermoid cysts and split chord malformations all of which i'll talk about later so don't get hung up on the terms too much these typically this process of primary neurolation typically occurs at days 18 to 28 of development the caudal most aspect again below the lower lumbar level undergoes what's called secondary neurallation and that happens between days 28 and 48 of development and this typically is two processes known as canalization and subsequent regression so when we talk about canalization of the spine this is really this caudal cell mass and it forms the distal spinal segments as well as the nerves that encompass and go with these segments of the spinal cord when we talk about regression we talk about involution of partial uh a partial aspect of this caudal cell mass which involutes and it forms the phylum terminale which is really the distal aspect of the spinal cord and it doesn't routinely have function in it so after the phylum terminalis is formed the vertebral canal actually grows faster than the neural tube and so oftentimes a routine question for fourth year medical students and interns is well at what age does the conus medullaris ascend to its anatomic position and typically this happens at about three months so at birth the tip or the bottom of the conus typically occurs at between l2 and l3 can be as low as l3 l4 and at three months of age again as that vertebral column grows but the neural tube is not growing as quickly that changes to its position at l1 l2 which typically stays at for the rest of their life and so that's a common thing to recognize especially as you work up neural tube defects and spinal dysrephism uh to see uh if there's tethering of the spinal cord because you want to look at the location of the conus so let's jump right into open neural tube defects so open defects have deficiencies in the overlying skin in they have bone defects meningeal defects and or nervous tissue which leads to a direct communication between the lesion in the central nervous system and the external environment the most common form is a myelomeningocele and this is where there's a focal segment of the structurally abnormal spinal cord exposed in the midline of the back this is an example of a child born at full term via spontaneous vaginal delivery prenatal diagnosis of myelomeningocele uh elected to undergo postnatal closure and you can see on this image here this is the the neural placode which is really the exposed elements of the uh central nervous system covered by a an arachnoid layer here and there's also some evidence of dysplastic skin in this area as well sorry i just saw someone raise their hand is that something that i need to address now or would you like me to wait and to the end um it's entirely up to you okay how do i do that [Music] uh you can go ahead and uh you should be unmuted now if you want to ask your question hi yeah sorry uh you're just coming in can you repeat yes uh i'm the slides are not visible [Music] he said he's having trouble seeing the slides oh um it looks on my end i can see your slides i'm not sure i thought maybe he's not shitty but uh as he just said now i thought of any problem yeah sorry it says i'm sorry it says i'm screen sharing yeah i can see um if anyone else has any issues let us know um [Music] but yeah it looks i i can see everything you're presenting okay um i can try logging in on my phone and seeing if there's if it's an issue with being an attendee versus a panelist okay do you want me to uh to hold off and wait here for a second um other people are saying the slides look fine so i think it may be an issue on your end i apologize i will try to look into it but why don't we go ahead and continue for now while i uh work on this in the background okay i'm sorry about that okay it sounds good yeah yeah i hope it works out yeah so um so this is the neural placo surrounded by you know this arachnoid layer this is all dysplastic ectoderm which is really unhealthy skin so this is a a really good illustration of a classic myelomeningocele requiring postnatal closure so the birth incidence of myelomeningocele is really 0.1 to 0.2 percent there's a big movement now and it's really wonderful about just really primary prevention of open neural tube defects and fortification of really all all diets across the world with folic acid or folate has provided a significant reduction in the number of open neural tube defects specifically specifically myelomeningocele that we're seeing and the recommended daily allowance for women of childbearing ages 400 micrograms per day should be noted and and definitely something to think about and counseling is that the risk of myelomeningocele is increased to almost three percent if there's a history of a previous child born with an open myelomeningocele as well so when we talk about the embryological origin of this again just kind of speaking generalities that the neural plates fail to fold and fuse into the neural tube and it remains as a flat tissue plate called the neural placode the placode is interposed between this superficial cutaneous ectoderm which really can't meet in the midline and the mesenchymal elements which typically act as a barrier and protectant both structurally and physically are not present so the bone the cartilage the muscle they're unable to migrate because they're not getting the correct signals and they're subsequently absent so interestingly enough the exposed dorsal surface is the interior of the spinal cord because of that flat nature of it and i'll show you this in a cartoon the exact embryological cause is really multifactorial likely due to multiple factors environmental genetic potentially and so we don't exactly have the answer to this but when we look at a cartoon and and kind of display this this is a really a wonderful cartoon here you can see this is a surgical cartoon indicating the scissors and a knife here but this is the neural plaque code and you can see that it's flat and this outer surface that's exposed to the to the world is the inner surface of the spinal cord and so you can see these plates this neural plate has not folded properly to to form a tube these are nerve roots and they may be normal they may be this plastic we're not quite sure um and you can see there's absence of the normal bony structures the vertebrae ends really in the pedicle here there's no articular pillars there's no facet joints uh you can see that there's an absence of cartilage and the muscle is is atrophic in this area as well so when we talk about management um you know antenatal diagnosis is really the mainstay given the technology and access to prenatal care that we have today maternal alpha fetal protein or afp is sampled by blood testing typically done during the early portion of the second trimester an elevated afp level can be predictive of a higher chance of a neural tube defect now there are certainly other congenital anomalies that can have an elevated afp but if the predicted risk is higher than a specific threshold value and that is typically 1 to 500 then high resolution ultrasound is performed ultrasound or fetal mri ultrasound can identify the level of the lesion the presence of lower extremity deformities and actually movement chiari 2 malformation and hydrocephalus all of which i'll talk about so don't don't get too caught up on that right now so when we talk about counseling after an antenatal diagnosis of myelomeningocele counseling is is very important and this can be carried out by obstetricians and maternal fetal medicine physicians but typically it's it's done by pediatric neurosurgery and the reason is is because we're the ones caring for these children after after they're born and so for for parents that choose to carry to term the long-term morbidity and specifically the neurologic and morbidity should be understood and clearly delineated first and foremost is hydrocephalus hydrocephalus uh you know where there's an increased amount of cerebrospinal fluid in the brain and difficulty with drainage of this whether it's overproduction or under absorption um you know it's it's a condition that needs to be dealt with and treated if it's present and this can require um either placement of a ventricular to peritoneal shunt which is the most common treatment most historic treatment and now there's newer treatments including endoscopic third ventriculostomy with or without choroid plexus cauterization so this ultimately in up to 90 percent of children with myelomeningocele will require attention at some point and it's a very important topic lower extremity dysfunction this is typically based on the level of the lesion so prenatal ultrasound and fetal mri are really wonderful at telling us the level of the lesion and based on this we can make educated guesses and predictions and in fact ultrasound can be quite accurate in determining the level of function that a child has just based on routine ultrasound urinary continence and incontinence um you know based on the level of the lesion whether or not the child will have any semblance of continence and if not what that looks like for long term in terms of clean intermittent catheterization um and subsequent need for monitoring for kidney disease and things like that same deal with fecal incontinence um in terms of the neural structures uh they're intimately related with both of those phenomenon kr2 malformation is a is a chiari malformation which is herniation of the cerebellar tonsils and tissue chiari 2 is very specific to children who have myelomeningocele and um so there are certain implications associated with this including brain stem dysfunction um ventilator dependence uh in in very severe cases cranial nerve dysfunction um sleep apnea things like that and cognitive impairment so there's lots of things that need to be discussed very openly with the family when it comes to myelomeningocele so when we talk about perinatal care things that we want to know are the size of the lesion and you know how big is the defect is it is it one by one two by two um if the child is born and the sack or the plaque code is ruptured many centers will initiate antibiotics though i think this may be a little more of a historic practice you want to cover the area with a moist dressing and you want to keep it as clean as possible until closure is performed from a neurological standpoint a detailed exam including cranial nerve dysfunction or function is is really important lower extremity function we want to know exactly what muscle groups are noted your pediatric neurosurgery staff are going to ask you what level of the lesion is anatomically and what the level of the lesion is from a function standpoint and this is very important because it pretends what kind of function they'll have later in life life specifically their ability to ambulate versus not do they have good rectal tone how is their fontanel feel what's their head circumference from an orthopedic standpoint you want to look at lower extremity movement uh look if there's any deformity uh clubbing of the feet scoliosis any gibbous deformities which is a significant kyphotic deformity in the back as that can have ramifications when it comes to care for the child in the supine position excuse me sorry and then urologic dysfunction so you want to uh if the child is not thought to be continent and you want to talk about getting a clean intermittent catheterization routine or schedule initiated and uh routinely a renal ultrasound is done as a baseline and urodynamics can be performed to look at the bladder contractility its ability to fill its ability to empty things like that so closure so what's our role here well if a child has an open neural tube defect you need to close it the reason is is because you want to create a barrier between the outside world and the central nervous system and the the primary goal of that is to prevent meningitis and further neurological decline this is typically done 24 to 48 hours after birth there is some evidence that waiting longer than 72 hours increases bacterial colonization by a significant amount and it's also crucial to preserve neural tissue and vascular supply as the tissue is fresh as it becomes more friable and exposed to air it can cause these things to subsequently necros and and you know cause further damage so from a technical standpoint the goal uh whether you're doing fetal closure or post natal closure which is what i'm referring to now is to close as many anatomic layers as possible so starting on the left you look at this cartoon here you see separation of the placode from the arachnoid layer and the ectodermal elements and you see this is often done sharply minimizing cautery to prevent any loss of blood supply once you're able to release the placode many people will actually reanimate the plaque and what i mean by that is actually turn this into a tube and this is done by placing one or two simple monofilament non-absorbable sutures to reanimate or recreate the neural tube the next step is really durable closure now remember the dura is actually involved in this tissue out laterally here and it often blends with potentially fascia or muscle fibers out laterally as well so the goal is to really harvest whatever dural tissue you can and provide a closure of this area some centers may augment with a patch to help close this as well and that's really up to the surgeon's preference the next thing is to close the the muscle and the fascia as much as possible and to close skin uh as well so when we talk about post-operative management for these children um this is you know for the most part this is pretty regimented across centers you may see some variation but in general patients remain in the prone position for about 48 to 72 hours a barrier dressing or a mud flap is used to prevent any urinary or fecal contamination i typically get daily head circumference measurements to monitor for hydrocephalus and routine ultrasonography is done as well again routine bladder catheterization if indicated and both orthopedic and neurological evaluations are performed this is just a screenshot of a a an algorithm that's followed uh in a neonatal unit you can see the the uh you know essentially this care is quite protocolized with very little variation across centers so when we talk about comorbid conditions um you know we touched on a few of these before so hydrocephalus is a major one it really develops in 60 to really 90 percent of myelomeningocele patients that undergo postnatal closure and up to 10 have evidence of hydrocephalus at birth most children who are going to develop hydrocephalus do so before six months of age and why do you think hydrocephalus can develop after myelomeningocele closure well when you're that really shining star on your fourth year medical student sub eye you can say well it's because you've obliterated a connection and leakage of spinal fluid and brought it into a contained system which can cause a resultant buildup of cerebrospinal fluid and cause elevation of the intracranial pressure bulging of the fontanelle increasing head circumference etc now treatment of hydrocephalus and infants with myelomeningocele can be quite variable there are some centers that that treat right away there are some centers that wait quite a bit and i think that's probably you know coming more into favor as we learn more about the thresholds for treatment but in general treatment for hydrocephalus in in infants that have an open neural tube defect include apnea or bradycardic episodes symptoms of high intracranial pressure which those are a sign of rapid or progressive ventricular megaly and this is either detected on ultrasound but more typically on clinical examination based on a rapidly rising head circumference or ofc if there's csf leak from the closure site um you know certainly you want to eliminate any technical problems that may have been available but um typically this is a sign that the uh pressure head from the cerebrospinal fluid is uh increasing and it may be a sign that the child requires csf diversion if there's significant hydrocephalus in the setting of a symptomatic qra2 malformation and again i'll talk about the chiari 2 coming up here which is a really important category to talk about and if there's a presence of a spinal cord syrinx which tells uh neurosurgeons that the the cerebral spinal fluid may be looking for an alternative pathway um to exit into and and intraspinal creating a syrinx can be associated with neurological dysfunction so if that's starting to happen then placement of a shunt or treatment with etv cpc would be a reasonable thing so someone had posed a question about survival when you talk about survival without treatment meaning without closure the survival rates are low and the reason is that uh significant meningitis and neurological decline can can set in um when you talk about um in modern day techniques and surgical closure there's nearly 85 to 90 survival rate but 10 of those children will will die before six years of age and this is becoming more rare and this is typically due to a symptomatic chiari to malformation and late mortality in in patients with myelomeningocele is typically due to shunt malfunction and more commonly uh in the setting of sepsis uh or or kidney failure uh due to chronic hydronephrosis in the setting of urinary dysfunction so when we talk about neurological function fifty percent of myelomeningocele patients are ambulatory with bracing and nearly 75 to 85 percent of patients are able to achieve satisf satisfactory dryness with clean intermittent catheterization and nearly three to ten percent up to ten percent have normal urinary continence and it's important to remember that that's why it's so important to understand the continuum of disease that that myelomeningocele and open neural tube defects bring uh to to the clinical table so i've talked uh in in depth uh a bit about the chiari too so on the left this is an example of a sagittal t2 mri scan um in a child with uh myelomeningocele who underwent postnatal closure and you can see the significant herniation of the cerebellar tonsils into the subaxial cervical spinal canal and associated with this is herniation of the brainstem contents and that's unique uh to to qra two patients in general you can certainly see it in the setting of what's called a chiari 1.5 but it wouldn't concern yourself with a nuance like that on the right this is actually a patient that has a open neural tube defect that was closed postnatally and doesn't have a krit malformation so you can see that there is a wide range here and the reason that a chiari 2 malformation is is really significant and causes morbidity is because the brain stem as you all know is really the relay center for for everything and it can control the respiratory center our cardiovascular center and several of the brain stem nuclei are in this area too so if there's any kind of molestation in this region and and that includes abnormal csf dynamics compression of the foramen magnum it can cause dysfunction in one of these areas so children that have a symptomatic chiari too and they're typically symptomatic with lower cranial nerve dysfunction and require ventilate ventilatory to support or support they suffer from central sleep apnea and they may even be trach uh or vent dependent these kids can can get very sick um if their chiari too uh kind of rears its its head and in what's called a chiari ii crisis so those kids in my mind are very sick and need urgent attention if those come to your to your clinic or your er when we talk about shunt malfunction and failure you know we we tell people that within five years fifty percent of of children who have a shunt require some kind of shunt operation now that may be a bit lower uh now based on some of the more recent data that's published but in general this is still a number that's very commonly used and uh children who have myelomeningocele who require a shunt are often very shunt dependent this is an example of a teenage boy who a right-sided scan showed a well-appearing scan you can see small ventricular spaces the left scan shows a very ill teenager same kid in the er nausea vomiting bradycardic and concerning for acute hydrocephalus and you can see there's not much change in the ventricular caliber or size and you might look at this and say no this looks okay you know look at another source but it's always important to look at a failure scan and and and see what a baseline scan looks like and this child was taken to surgery and was under significant pressure underwent a shunt revision and was discharged home in completely normal condition the same day so shunt failure can can present quickly it can present rapidly and sometimes fatally and so you have to have a high index of suspicion in in these children when we talk about other late chronic conditions uh spinal cord tethering and this is something we'll talk about in depth with some of the closed neural tube defects as well but i wanted to introduce the topic here by definition children that have undergone a closure of a myelomeningocele their mri has the appearance of a tethered cord meaning that their conus is going to be at a low lying level because of their congenital abnormality so you this this is a picture of a child on the right a sagittal t2 mri scan you can see the conus medullaris it's a little hard to make out probably on the screen but it ends really towards l4 l5 and so when someone undergoes an mri and say they have a tethered cord i don't particularly jump because tether cord is not just a diagnosis of radiographics it's a clinical diagnosis and you'll hear that through and through your neurosurgery training moving forward symptoms of spinal cord tethering can be can be quite broad they include scoliosis or curvature of the spine changes in muscle tone weakness spasticity changes in urinary function or bowel function and things like that so when we see children in a multidisciplinary spinal clinic or spinal anomalies clinic as it's called in some institutions these are all things that we ask about it's not just oh do you have headaches how's your shunt working let's take an mri scan it's a myriad of symptoms that really require both a clinical evaluation and radiographic confirmation or adjunct more than anything i just want to spend a few minutes talking about fetal surgery in the setting of myelomeningocele i think it's important in today's training setting that you know most people will train at a center where they do some aspect of fetal surgery or they're developing a fetal surgery program it's becoming popular and and because of that i think having a general knowledge about it is really important so fetal surgery for myelomeningocele the the advent and wide adoption of fetal surgery is really based on a multi-center randomized control trial so this is level one evidence not something we have a ton of in neurosurgery but this is one thing that we do have um this uh this is based on the two-hit hypothesis that that was uh really made uh popular by by dr mcclone and and uh fetuses with myelomeningocele are at risk for losing additional neurological function and this is called a two hit hypothesis so the first hit is thought to be this um congenital anomaly and uh that there's uh basically herniation of these spinal elements and then the second hit is that the neurotoxic intrauterine environment causes further neurological decline so the thinking is that fetal surgery in some way can can prevent this so in carefully selected patients fetal surgery can decrease the risk of hydrocephalus preserve lower extremity function and increase the the chances of ambulation when compared to post-natal repair this was the mom's trial criteria which is the randomized trial that i'm referencing and if those of you who haven't looked at this i would encourage you to at least read the abstract and become familiar with it because it's really a seminal paper in pediatric neurosurgery you can see the very strict inclusion and the even more strict uh exclusion criteria for this study so these are very carefully selected moms and fetuses that that are candidates for surgery the tenants of fetal surgery are the same as postnatal surgery so you want to achieve a multi-layered watertight closure um it's important to understand and realize when you're counseling that fetal surgery is is not a cure for myelomeningocele myelomeningocele is a congenital condition that requires lifelong care and it's important to convey that when you look at the combined fetal and neonatal mortality after fetal myelomeningocele repair it's three to six percent at experienced fetal treatment centers fetal surgery increases the risk of many things including pregnancy related complications premature labor premature delivery uh the hysterotomy needed for open hysterotomy closure for fetal repair can increase the risk of rupture in the third trimester and in subsequent pregnancies which is a life-threatening complication for the mother so some factors to consider is that at screening fetuses that have severe ventricular enlargement and lower extremity uh function that's poor are really poor candidates for fetal surgery because they get all the risk and are unlikely to get any of the benefit despite the benefits of prenatal surgery postnatal surgery is still the safest treatment option for both mother and fetus and prenatal counseling by experienced neurosurgeons is really critical in treating these these patients so prenatal counseling if mother and fetus are both good candidates then counseling should include fetal surgery it's best to use a shared decision-making model which really focuses on the individual self-determinism and the approach allows patients to pursue participate and understand their decisions and have a voice in their own care it recognizes really that people have differing needs and values and risk tolerance when it comes to these things and so an informed decision can be made this is an example of a treatment uh sorry a counseling algorithm for prenatal diagnosis of myelomeningocele and and i think it encompasses really all the contingencies that we need to think about and when you talk about fetal closure again i told you it's very similar to post natal closure with the exception that you're operating on a fetus from 23 to 26 weeks of age in a gravid woman and it takes a considerable effort to get this done including maternal fetal medicine really quarterbacking things pediatric cardiology pediatric surgery obstetricians uh in place and and really you're planning for the worst case scenarios and all all of these things so it really takes a concerted effort and i can't highlight that enough so i want to kind of finish up the talk probably the last 10 or 15 minutes or so and hopefully we'll have some time for questions as well on closed neural tube defects um so going back to this initial slide that i had previously talked about closed neural tube defects or closed spinal dysrafism really kind of boils down to different categories and again i like to think about things really simply so when i think about a closed neural tube defect i'm going to ask the question okay is there a dorsal subcutaneous mass or is there not a dorsal subcutaneous mass so those with a dorsal subcutaneous mask include those with a lipomyelomeningocele a lipomyelocell terminal myelocystocele and a meningocele without a dorsal subcutaneous mass you can have what's called a lipoma which is different than a lipomyelomeningocele though they probably occur along a continuum and among lipomas there is a lipoma of the phylum terminology there's what's called a chaotic lipoma which is interspersed with the nerves and there's a dorsal lipoma there's a tight phylum terminale and disorders of the notochord include a persistent terminal ventricle a dermal sinus tract a dorsal enteric fistula a neuroenteric cyst a split cord malformation there's caudal regression syndrome and then segmental spinal dysgenesis so we call talk about occult spinal dysrapism one term that i'm gonna just throw out there and and again all of these uh occult spinal dis dis rafism cases they're characterized in general by an intact epithelial layer so they are closed so there's not an urgency to take care of these things unless there's leakage of spinal fluid or things like that so spina bifida occulta you're going to see this term seen a lot on radiology reports on console requests and things like that and it's a commonly seen abnormality where there's an absence of a spinous process or lamina of l5 or s1 it's an incidental finding and there's really no action needed when you think about closed neural tube defects what you want to keep in your mind is there are reasons to intervene and there's reasons to observe the reason to intervene is if there's a meningitis risk in the setting of let's say a dermal sinus tract where there's a punctate connection and lesion with the outside world and if there's spinal cord tethering or concern for spinal cord tethering i'm going to talk about a few of these things kind of in in case based form here to finish out the talk but what i want to bring your attention to is is tethered spinal cord syndrome can occur in a congenital sense so in the setting of a myelomeningocele a lipomyelomeningocele a spinal cord lipoma a fatty phylum terminale or a split cord they can also occur because of a spinal cord injury so in the setting of trauma they can also occur in the setting of a tumor metastatic tumor or primary tumor they can also occur in the setting of an infection bacterial meningitis tuberculosis fungal meningitis they can also occur in the setting of ionizing radiation or post-operative adhesions so there's lots of causes for tethered spinal cord syndrome so just some just because you've diagnosed someone is having a tethered cord doesn't mean they have a congenital problem and vice versa okay so clues to diagnosis so you can see cutaneous features that that really appear in the midline and this can include in the setting of a lipomyelomeningo a subcutaneous lipoma a sacral dimple is typically a sign that there's some kind of abnormality underneath that needs to be investigated hypertrochosis or a hairy patch in the area skin tags or a cutaneous hemangioma this is an example of a young girl who has what appears to be a cigarette type burn in her lumbosacral area but this actually upon further evaluation was actually a what's called a meningocele monkey or an atretic meningocele that had involuted but there was an abnormal connection and she actually presented with signs and symptoms of tethered spinal cord so when you talk about the neurological symptoms associated with tethered spinal cord there can be a wide variation in symptoms so you need to keep a high index of suspicion symptoms of tethering include lower extremity weakness radicular pain sensory deficits hyporeflexia which can appear to be asymmetric spasticity baller bladder function and non-radicular pain other signs include scoliosis as i mentioned previously upper motor neuron signs typically come from ischemic core damage from tethering so they're typically mediated a little bit upstream versus lower motor neuron science can actually be from local compression or nerve entry so anomalies in the bone can can include bifed vertebrae laminar defects hemi vertebrae sacral aplasia and sacroiliagenesis and oftentimes these are associated with tethered spinal cord and we can also see them in the combination of foot deformities i get a lot of consultations from my pediatric orthopedic surgery colleagues because kim's kids come in with uh limb length discrepancies lower extremity atrophy toe walking limb pain and scoliosis and oftentimes it's a harbinger of of a an occult spinal uh dysgraphism anal rectal anomalies can also be associated with uh closed neural tube defects and associated anorectal and urogenital disorders can happen in 10 to 15 percent of all patients with anal rectal anomalies and this can include colloidal uh extra fee and imperforate anus bladder bladder extra fee and vader syndrome which you all know what that is so i'm gonna just spend the last few slides just going through a few cases and then hopefully we can spend some time talking about some of the questions that you all have so this is an example of a lipoma so this is a dorsal um lipoma in the setting of an 18 month old male who presented with early onset scoliosis now he was seen by our orthopedic surgery colleagues and they did their scoliosis films and in addition to the scoliosis they found that there was several levels that included a hemi vertebrae and this in this red arrow kind of indicates this right here and the dorsal lipoma which is bright on this t2 sagittal image as they uh always are and he was diagnosed with a dorsal lipoma with a fibro fatty phylum terminally so this child not only had a low lying conus but also had a dorsal lipoma and setting of scoliosis as well we chose to de-tether this child by removing the lipoma and sectioning the final terminality so meningocele so this is an interesting case this was a newborn male with no prenatal diagnosis of a neural tube defect born via spontaneous vaginal delivery and it was found to have a large fluid filled mass on the posterior neck so this is a image of the the mass itself and you can see here uh it it does appear to be fluid filled kind of a pedunculated mass on the aspect the dorsal aspect of the spinal midline spinal column there and subsequent mri image demonstrated this so this would be a dorsal a closed neural tube defect with a dorsal subcutaneous mass and you can see here the mri was performed to ensure that there was no neural elements involved in the mass itself and this turned out to be a simple meningocele which was resected on day of life 3 and the baby did very well and continues to do well with no neurological deficits to date this is another example this is a child who presented to me from a pediatric surgery colleague an eight-month-old female with anal rectal stenosis who was found to have a tethered spinal cord and a small syrinx and a fatty phylum terminale on screening mri of the l-spline without contrast you can see on this sagittal mri which is a t2 weighted image you can see the small searing within the spinal canal and at this level here on a t1 image you can see this bright white area here it's probably a little hard to appreciate on zoom but that's indicative of fat and this child had a fat phylum terminality which we sectioned to de-tether this child due to the presence of a cyrics split cord malformations this is another closed neural tube defect that will likely present later in life secondary to spinal cord tethering there's two types of split chord malformations type one is where there's two dural sacs and a osseous or fiber spur and these children are usually symptomatic in the way of scoliosis uh or spinal cord tethering urinary dysfunction lower extremity dysfunction pain dysesthesias things like that type two is where there's a single drill sac and this is a complete or incomplete core division and these children tend to be less symptomatic a dermal sinus tract this is a closed neural two defect that does require treatment uh at some point and this is really to prevent uh connection with the outside world so this was a newborn with a dimple in the lumbar spine above the coccyx it was uh investigated with an mri scan you can see an anomalous connection here basically this yellow area showing you a tract with uh basically continuity to the outside world as uh you can see here on this axial mri which is t2 and in addition uh on day of life 2 there was actually occasional clear fluid that was draining from the tract and so this child was taken to surgery for obliteration and removal of that tract and primary closure of the neural tube and defect in the dura and to prevent further meningitis so uh i ended a few minutes early here so in conclusion spinal dysrapism is a really interesting topic there's really a wide continuum of pathology you can think about these things very simply as open and closed i would consider the signs and symptoms of neurological dysfunction and take it in conjunction with imaging findings regardless of treatment whether or not you they require surgery children with spinal dysgraphism require routine surveillance and care and at this point i'm happy to take any questions and i'd like to thank you guys for inviting me to speak today hey everyone ryan rad here from neurosurgery training.org if you like that video subscribe and donate to keep our content available for medical students across the world