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Neurofibromatosis for Postgraduate Orthopaedic Exams
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Neurofibromatosis for Postgraduate Orthopaedic Exams
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Language: EN.
Segment:0 .
To over to Dr. Matagorda to talk about neurofibromatosis. Hi, good evening, everyone. Are you are well. This evening, I'm going to talk about neurofibromatosis, which is one of the common topic for emphasis exams, both as the MQ Viva, as well as the clinical examination.
Although it is a rare condition, it is one of the topic like by most examiners. So if the basics, you can easily score points on this. Yeah so how I have laid out my talk is a brief introduction to neurofibromatosis, which overlaps with the two main conditions that we come across in orthopedics that is congenital. So the process of the tibia and scoliosis, obviously, because it is a rare condition, I don't have a hands on experience with this condition, so I have tried to gather as much information that is useful for the exam.
But if you have got any questions that I answer, I will refer and come back to you as soon as I can. OK, so the main thing is. Is the exam oriented topic how to approach on this topic? You are going to be asked, what is a neurofibromatosis? These are the minimum things that you need to know.
What are the diagnostic criteria and what are the orthopedic manifestations of a neurofibromatosis? Particularly important is the genetics, which can be an obscure question quite commonly asked, like what are the common autosomal dominant, recessive, x-linked dominant, x-linked recessive disorders? Kefir lesions. How to identify this, or it can come up as a picture or a slide that you may be asked to identify and then the viewer can go on.
One of the favorite topic is McKeown Albright syndrome, so which I'm going to briefly touch. And then again, there are two topics that I'm going to cover congenital foot, autorisés tibia and the scoliosis, particularly in scoliosis. They are going to ask like, what is the dystrophin curve? What are the features and those sort of things? Everything is basic. So I've not tried to cover in depth each topic, but it is just a flavor.
So epidemiology, it is a rare disorder. It is an autosomal dominant disorder when we talk about OK, neurofibromatosis, most of the times it is neurofibromatosis, one that we are talking, but there are other varieties which I'm going to introduce the later. The most common is the neurofibromatosis one, which constitutes about 90% It is because of mutation or inheritance.
About 50% is a sporadic mutation and 50% is inheritance. It is transmitted as 100% penetrance, which means a genotype as if there is a genotype, which is inherited. It has got a particular phenotype. So if you've got that genotype inherited, you will definitely get those features. So the risk of why it is important, particularly in pediatric age group, is the risk of developing malignancy, which is about up to 8% The main defect is the neurofibromatosis.
And if one gene on long on chromosome 17, this is again an mq question. It is a tumor suppressor gene which regulates the protein neurofibrillary, minimal, which I'm going to touch in the later slide. How it works is the chromosome 17 codes for neural fiber protein that regulates Ros protein pathway signaling pathway. Yeah, that are signaling pathway.
Isn't necessary is a negatively control that means if the neurofibromatosis protein is less the Ross protein signaling pathway acts uncontrolled, which promotes multiplication of these cells. As I mentioned, there are different types of neurofibromatosis. The most common ones are in one which constitutes 90% and the NEP two, which constitute about 2% to 10% The others are very rare.
They are segmental neuroma, ptosis and monomers. I have laid out the difference between NF1 and NF two. The characteristic difference that you need to know is for an nrf2, if you remember bilateral acoustic astronomers and neuroma. That is quite important. Again, it can be asked in the MCU question, as well as via the NF1 was first described by one reckoning.
Huston is a German pathologist. As I mentioned, it is due to the tumor suppressor gene mutation and the protein name is neurofibrillary in protein. Whereas NF2 was described by Wishart as Scottish. It is. Gene defect in chromosome 22 that is responsible for modeling protein synthesis. So as you can see, and if one is neurofibrillary protein. And if two is modeling protein.
So these two are quite important for M6 as well as for Viva. In F2, you see multiple benign tumors, which can become malignant, so that is the main feature. So how the neurofibromatosis, which is one manifest itself? The gene defect affects all the three germ layers ectoderm, mesoderm and endoderm, which means it affects most of the systems in our body.
The main ones are the skin, eyes, nervous system and skeletal system. So the common presentations are in spots, which I'm going to show in the picture later on. It's about 90% of the patients demonstrate co-pilot spot and then multiple fibroblasts. These are the small subcutaneous or deep seated tumors, benign nerve tumors and then less nodules on the iris, which, again, is about 90% There are additional features like learning disabilities, axillary pricking optic gliomas.
Lexi, from neurofibromatosis, scoliosis, Chouinard being displaced and it goes on, but the main features I'm going to show you with the illustration. If you divide the manifestation according to the system involved in the skin, you can see it's part. Interpretation is trickling that is axillary prickling, which can be in the axilo or in the groin or in the memory region. Why it is important is if you get a failed spot in the exam, then you need to look for under the axilo and in the groin because then the examiner thinks that you are thinking in terms of, you know, even if there are none, but you should be able to pick up.
OK, I'm looking for the axilo to pick up if there is any axilo distracting. So these are the things that are quite important. And then the five members can appear either cutaneous, subcutaneous or diffuse, involving the segment of the limb in the eyes, lift nodules, optic glioma and also visual disturbances. In the nervous system. Most of these patients have got learning disabilities and cognition problems.
They also can suffer from Caesar depending on where the location of the tumor. And also common problem is headache because these patients can have due relaxation. The skeleton, it can be so the traces of scoliosis back to excavate them. Captain atom. Limb hypertrophy as it goes on. How they present.
This this slide summarizes how they present at what age, usually cafe alert spots are present by 3 to five years, and if they are not present beyond five years, it is very unlikely that they appear after like that optic glioma up to seven years it can present. And after that, it is very unlikely. But the list of deals maybe there may not be diagnosed up until late adulthood.
Similarly, skin trickling. Neurofibromatosis, scoliosis pseudoviruses and malignant peripheral nerves from this, you appreciate that it is not a unique presentation it can present, it can be diagnosed by an eye examination or an examination of the lower limb. Then you look for other features of neurofibromatosis, so you can diagnose as a bowing of the tibia. Then you look for the neurofibromatosis, so you can imagine what are the systems involved?
It involves ophthalmology, it involves a general practitioner. It involves orthopedics. So it could be a hearing problem. So US specialists, one of these can diagnose because it is such a varied presentation. How to diagnose the Cafarella spots. Yeah, these are mainly found on the trunk and they have got a regular margin.
And it is a pigmented patch. And usually it is multiple it can cross mid line and it has got a regular border. The other differential diagnosis, for copilots part, is Mexican outbreak syndrome, fibrous dysplasia, tuberous sclerosis, Fanconi anemia and silver Russell syndrome. If you look at the illustration, this summarizes the main features of neurofibromatosis, the cafe light sports.
As you can see, this can appear as a slide in the exam both in the MCU as well as in the wiwa, and then the discussion goes on with the details of neurofibromatosis. The neurofibromatosis can be. It is a benign tumor, which is either subcutaneous or it could be deep. It could be multiple. But as the plexiform is, it involves a segment of the limb, usually with massive.
Axilo prickling is a multiple small cafe like sports in the axilo region or in the groin R&D in the region. Optic gliomas, these are the brown, hyperpigmented hematomas patch that is present on the iris. And as you know, skeletal manifestation could be scoliosis 2.0. This is the summary of the slide that I just explained.
These patients are prone for hypertension, so it is necessary to measure blood pressure because it could be a renal vascular problem, or it could be due to few chromosome item, which is another common association found in neurofibromatosis. If you come to the neurofibromatosis to, this constitutes about 10% of the total variations, it is also autosomal dominant neurocutaneous disease.
There's approximately about one in 25,000. Mutation is on chromosome 20 to kafala, its parts are less numerous when compared to neurofibromatosis 1. But the characteristic feature here is bilateral vestibular monomers. So if you get an exemption where bilateral vestibular astronomers think of neurofibromatosis two, they can develop in other cranial nerves, spinal nerves and cutaneous nerves.
Now they can also double up meningiomas gliomas slit lamp examination is quite important because it can reveal subscapularis lengths capacities in children. So it is one of the screening tests that is used and multiple lymphomas can be seen on the trunks, thighs and distal arms. So if you look at this picture here, you can see. The spinal tumors, and this is the acoustic neuroma that is.
They so this slide is quite important because of the varied presentation. And it can present at various stages. For diagnosis, the National Institute of Health has made certain criteria. For neurofibromatosis, five bombers, one type 1. There are at least two of the following six to seven characteristics that should be present at least six elite sport.
If it is pre prebuttal, it can be millimeter more than millimeter or less than 15. But if it is most pivotal, it has to be more than 15 to fit into the criteria. It could be neurofibromatosis. It can be multiple or it can be one plexiform neurofibrillary, which is involving a segment of the limb and then axillary prickling the groin prickling that I mentioned optic nerve glioma, at least two little nodules and distinctive Usher's dysplasia like the tibial pseudoviruses or this P0 dysplasia and then affected first degree relative.
But as for the new role for Obama to. Either a or b, if it is a bilateral acoustic nerve mask, which is diagnosed either by CT or MRI. That is enough to make a diagnosis of neural tube. Or it could be the other features like first degree relative and associated unilateral acoustic neuroma, neuro meningioma, glioma Sonoma and then subscapularis lens opacities.
So how are you going to diagnose the diagnosis is mainly clinical once you identify are suspected is an 05 rumor, then you investigate, depending on what is the presenting symptoms. In terms of investigation, the common investigations that are routinely used and helpful are the CT, MRI scan, PET scan biopsy of the but usually is not necessary unless it is a variant where.
You have not come to a diagnosis or suspicion of a diagnosis of the program, then you can do a biopsy. You can do mosaic diagnostic testing with this capability, but that is where it is necessary biopsy of the needle fibroblasts are also not necessary unless it needs excision because of the symptoms when you can send it for biopsy. And then genetic testing, molecular testing of the RNA based NF1 mutation.
This is to confirm the diagnosis and also differentiate from other similar disorders like lygia syndrome. One of the common differential diagnosis are the exam question is mcewan Albright syndrome here also you see kefaya late spot, but these are irregular. And if you look at it, it is quite large and they don't usually cross the midline and their bodies are irregular, as you can see here.
Yeah, it is also the coast of Maine, whereas the copilot's parts in Europe number one coast of California, where it has got regular margin. It is the other features are apart from the copilot's parties, precocious puberty, all your fibres, dysplasia and it is related to DNA is one gene locus in chromosome band 20. Again, this is an obscure question. So some have to remember these are all factual and you have to remember some of the other differential diagnosis is the lygia syndrome Noonan syndrome, facial cutaneous syndrome ring chromosome.
But one of the buzzwords to mention, if you are stuck is how are you going to manage? Then you have to mention it is a multidisciplinary approach. If you don't know anything or nothing comes to your mind just mentioned, it is a multidisciplinary approach because it has got such a varied presentation. So you need to have multiple specialists involved to give a comprehensive care.
The multidisciplinary team in usually neurosurgeons, spinal surgeon, you name it, most of the because it affects almost all the systems in the body. Yeah with regard to treatment, there is no cure for neurofibromatosis. The only thing that we can do is detect early monitor for symptoms and then do symptomatic treatment that is absolutely necessary. They are routinely monitored even if they are not symptomatic, and annual examination is recommended because it is.
It happens to be common in pediatric group presentation, so it needs to be monitored till they attain skeletal maturity or at least annually. The growth and development, monitoring, ophthalmology examination, neurological examination, hearing tests, blood pressure and scoliosis examination, these are the minimal that you need to do with annual examination. With regard to the treatment, if it is turning out to be cancerous or suspicion, then you confirm the diagnosis.
And you can treat with chemotherapy and radiation therapy, which is beyond the scope of this talk. And with regard to surgery, certain tumors need removal because of the pressure effect, or it could be because of the malignant transformation. And most of these patients need genetic counseling. Now we need to have a system how to prevent from patients getting neurofibromatosis.
It's just not possible because in 50% of the cases, it is spontaneous mutation. But those who have got neurofibromatosis, they can be counseled and primary prevention can be applied. For example, avoidance of conception, if they don't have children, they don't pass it on. And if one parent has got the problem, the other person can have a donor to achieve the conception.
And pre-implantation diagnosis, where you either examine the sperm or the Rover and make sure that it is mutant pre before fertilization. Yeah, and the antenatal diagnosis. Suppose that if the conception has happened. And if you detect that this patient, this child is going to be born as a neurofibromatosis, then you terminate the pregnancy, that is how the primary prevention works.
But as the secondary prevention is to identify, monitor and treat the manifestations, it is mainly by neuropathy from our specialty clinic. It is set up both national as well as the local level with support groups. In UK, we have got the neural foundation, which monitors these groups. There is a neutral imaging, which is available presymptomatic, particularly optic glioma to identify and then IQ and psychological testing is also done in school.
School children. Which is as a screening procedure. Why genetic monitoring is required is to provide accurate medical and genetic information and dispel the common myths. This neurofibrillary clinic, it has got multidisciplinary specialists who are going to achieve this. They are going to monitor.
There will be a detailed examination and documentation of pain, neurology and then the growth, the cognition. All these are monitored and documented, it is entered on the database. This is how annually the patients are monitored. This needs to go on the record all the visual symptoms head circumference, height, weight, people, pubertal development, blood pressure, cardiovascular.
The cardiovascular system is also important in children because they are prone for congenital heart disease pulmonary stenosis, then skeletal examination examination of the skin. This kidney examination prior to school enrollment to identify the late spot. The clinicians need to be aware of all the manifestation to identify these in early stages.
That is why these are specialty clinics and run by the specialist. The IQ testing is generally recommended, and the recent recommendation is to have a whole body MRI scan to know the tumor burden. Particularly in children, when they are going to become adults. And these patients are also prone for breast cancer and poor prognosis.
One of the screening program is to introduce mammography or MRI at around 30 to 30 years of age. Screening is not necessarily only for the patients and the families, it is also for first degree relatives because they could have undiagnosed clinical features. So all first degree relatives should be screened skin and slit examination, slap examination is performed and determine whether the case is familial or sporadic, where you can avoid and take primary prevention measures.
Counselling is very important because this is a condition which you cannot cure, so family and the parents are worried. So psychiatric counseling is quite important and social support groups. And also, it focus on the prognosis. Genetic risk of future offspring and also psychosocial adjustment. Some of the trial drugs that are going on at the moment. As you can see, they are quite long.
Mitogen activated protein kinase kinase inhibitors, orally administered muscle blockers. They've got some promising results, but none of them have been quite successful to recommend by the FDA. The prognosis the prognosis can be because of the varied presentation, it can be good or it can be worse, but it is a stressful period where it can progress.
And there is always a risk of things going wrong, things becoming malignant and symptomatic. These patients usually die before the age of 50 years because of changes to malignancy and also cardiovascular problems. Now, that is the brief introduction to the neurofibromatosis, but about orthopedic problems that we encounter as surgeons and scoliosis kyphosis.
Atlanta axilo instability in about 2003 of the patients with neurofibromatosis 026 is present in about 5% to 6% hemi hypertrophy of the limb in 1.4% fibroblastic. 25% limb blending inequality 7.1% some rare conditions, like plane pesca was telepaths doing dysplasia, but this exoskeleton and can be present. Well, here, one of the common questions that is asked in the exam waiver is what are the orthopedic problems that you can encounter with patients in europe?
That is why I put in this slide. It's quite important. The orthopedic manifestation one of these could be very slight. And the why was slide and the discussion goes on. There is the further the orthopedic manifestation of the neurofibromatosis, I'm going to cover two topics briefly. One is congenital sodertalje seems to be, again one of my favorite topics of the examiners and the scoliosis congenital through the traces of the tibia.
Is one of the most challenging and misunderstood condition. It's about one in 250,000 incidents. This manifests usually before two years. The etiology is unclear. It can develop spontaneously or after a terrible trauma, usually diagnosed as a pseudo process or nonunion of the tibial fracture. It happens in distal plastic segment of the tibia, which is usually the distal tibial type.
It is found in about 6% of the patients with neurofibromatosis, but. In about. 55% of the patients with congenital disease usually have neurofibromatosis. 15 percent, it could be due to fibrous dysplasia. The association of pseudoviruses with neurofibromatosis. It doesn't affect the outcome. They behave in the same way, which is a difficult problem to treat.
It is a segmented displays here, usually results in anterolateral bowing of the tibia. One of the exam question is differential diagnosis of bowing of the tibia that is anterolateral bowing and remedial bowing, both from medial bowing. So you need to know a few conditions which affect these different bowing of the tibia. So anterolateral bowing is characteristic of neurofibromatosis.
When you get this in the exam, which is a possible because it is a painless condition, look for other manifestations of neurofibromatosis, that is what the examiner is looking for, looking for its part. Let's not yield axilo reflecting neurofibromatosis. Yeah once the fracture occurs, there is a little scope of spontaneous healing, or sometimes even with multiple interventions.
There are surgical methods. Once it is fractured, usually the treatment is invasive, but there are some non-invasive novel treatment, which is coming up in the form of electrical stimulation and BNP. Which is adding to the success rate of the invasive treatment. What is it pathogenesis? The bone Assad is weak mechanically, and also it's osteogenic capability is less.
Why? because. In this little part where the keratosis site is. The tissue is vascular. There is abnormal tissue in the PTSD that encroaches on the bone. It has got high, osteoclast resorption, very poor osteogenic potential. This leads to reactive changes in the rest of the bone, causing the position of the trabecular bone.
That's why you see thickening of the cortex sclerosis of the medulla. And also, excess resorption lead to systemic changes. Impaired vascularization is the main cause for decreased osteogenic capabilities. Sometimes it is also called the buzzword hematoma test tissue. The so the histopathological, it is the fibrous hematoma, which is the culprit here.
They love feet. Strangled the pedal steel blood vessels, which becomes fibrotic and vascular. That is one of the hypotheses that is to explain the pathogenesis of. Sort of process, there is variable mixture of fibrous tissue, fiber, cartilage, hyaline cartilage with evidence of some disorganized and classification at this site.
As you can see here, that is a girls team that is the bone. Whereas the parietal tissue, which is the serratus tissue, encroaches onto the bone. That is causing a vascular atrophic boom. Yeah, the appearance causes strangulation of the bone with a atopic and vascular tissues developing, and it surrounds the tibia causing compression or stabilizes cyst formation.
And so the process. The clinical manifestation, what you need to look for if you see a Boeing, which is usually a trilateral Boeing, is skin dimple there is a small dimple. If you look closely at around the apex of the deformity, you'll see a small skin dimple, which is a telltale sign. It could be neurofibromatosis. And they're a little Boeing. And most of the times you will end up in leg length discrepancy because of the Boeing, as well as because of the dysplastic bone.
It can end up in 0 trust present as it utterances are only Boeing. And also, it could fracture with without trauma or with a terrible trauma. Look for other features of anterolateral Boeing association like lateral ray deficiency while his foot. Some of the features associated neurofibromatosis and fibrous dysplasia you need to look for. So these are the conditions where, where and if you see a patient with an collateral Boeing, you look for manifestations of neurofibromatosis.
What are the investigations, usually the X-rays X-rays shows cortical thickening fracture, medullary sclerosis, atopic bone osteopenia, sharp bone deformity, the joints above and below. Magnetic resonance imaging is helpful to know the extent of the disease and also helps preoperative planning to know how much to restrict. And also, it tells about the morphology of process taken Petrus's team, and they are decent soft tissue if there are any neurofibromatosis fibroblasts that are associated.
The other helpful investigations very rarely used our CT scan and bone scan. There are several classifications, as you can see the difficulty in the management, the more complex it is. Everybody comes up with a different classification to make the treatment simple. There are Anderson, Boyd, Crawford, pally, etc., but no one classification.
The simplest is proper classification, which is not dysplastic and dysplastic. It is four types in non dysplastic. They enter lateral bowing with increased density of the cortex and sclerosis of the medulla, but there is no fracture. Whereas in type two, which is dysplastic and there is a little Boeing with failure of the tubular aviation, as you can see here, the tubular is affected.
I think there are systemic changes and is Frank slap. Our treatment, the diagnosis is not difficult, but the treatment is the main thing, which is very difficult. The aims of the treatment here is to excise the pathological tissue because as long as the pathological tissue is there, it is not going to heal. And to get to excise the pathological tissue, you will be left with a segmental defect that you may have to stabilize.
You have to create an environment for the bone to heal. So biological bridging, which is autograft or fibular graft vascularized. And the aim for long term bone union, because these although it can heal, it can form a full bone. It is subjected for real practice, so you have to protect it till they become adults. There are associated problems that you have to treat it, just not excision of this process and getting the bone to heal.
There are deformities associated which you need to correct. You need to look at the soft tissues giving the coverage to the area, soft tissue lesions nearby joints like the ankle and the knee if they've got any deformity you need to address. The main thing here, if it is only bowing the treatment, is prevention of the fracture and also if a fracture is up as it happened and you have treated and it has healed is to prevent the fracture.
There is no single treatment, which is widely accepted. You can try any sort of acceptable treatment. I'm going to narrate for you the success claims have been variable from 30 to 100% As you can see, these are the things that have been tried. This is an intermediary rod, which is a telescopic rod where you exercise this lesion. Put a bone graft. Correct, the deformity performance tenotomy and then fix it with telescopic rod as the child grows.
Once the fracture heals. It gives that stability as well after the union and prevent fracture. If there is associated deformity, it is one of the fixator. Elizabeth fixator that helps to correct the deformity that is associated. So the treatment options are bone grafting, which is common for any associated treatment that you offer along with the interval or inhaling or external fixator, usually vascular is fibular graft is used at a later stage, not as a primary treatment treatment in some cases, you have to go for amputation when it has failed.
And the other operative treatment is electrical stimulation and the BNP, which is an adjuvant. The surgical time, when are you going to operate the epos, the European pediatric orthopedic society recommend surgery after age of five years and they categorically say you should not perform below before a third birthday, basically because the size of the child is small to take a major intervention and also difficulty in harvesting the graph and the fixation of process will be very poor.
You won't get a stable fixation. Usually when there is the sort of traces of the tibia, 2/3 of the cases that will be associated tubular stresses as well, it is necessary to treat the fibula through the process as well with the tibia because you need to have the optimal alignment and also sound healing. The success rate will be high. If you treat both.
If the fibula is unaffected, then you may need to do fibula osteotomy when you treat the fibula tibial. There is higher incidence of healing when you treat both these utterances together. You may need ankle stabilization for in one synthesis and distal tibial fusion to prevent the deformities. Some of the instruments that are used, you need to be aware of the telescopic rod name of at least a couple of the routes that are used, like Sheffield rod, which which has got male post, female post.
And then it expands as they bone growth. The other one is fussier. Dual rod Bailey double Charlie Williamson. The advantages of the intermediate is simple, cheap, reproducible, provide stability, prevent fracture because it can be left in the bone. Negligible donor site morbidity, it can be combined with other modalities like BNP and bisphosphonate.
The disadvantages are in children. You have to cross the ankle joint and also slap subtalar joint. It can lead to joint stiffness and fracture after removal is a common. But exclude fixator. The advantages are the same as with any external fixator, it can allow correction of the deformity Lackland. It allows the extension of the proximally and distally to correct the deformities of the joint, and you can simultaneously do correction of all the associated deformities and discrepancy.
And it gives a better axilo angular and traditional stability, particularly lesra, for early mobilization. But of course, it has got its own disadvantages, like a long time in the fixator. It is cumbersome and may not be like the patient's vascularized fibular graft. One of the treatment that you need to know is what arteries examiners can be to give you that extra mark from seven or eight.
They may ask, what are the arteries that are involved? So you need to know a tibial arteries and uttermost to the baronial artery subpoenas when is an estimate to the baronial vein? The advantages of tubular graft is you can take if the segment of the same bone the fibula is not involved. You can use the lateral or you can use the contralateral. It offers a good biological environment, which is an autographed.
It has got a high success rate, both as a primary procedure as well as for revision surgeries usually needs a secondary bone graft if the ligament discrepancy is more than 5 centimeters and the resection is more than three centuries. Most of the times it is not used as a primary procedure because it is costly and needs the technical expertise. A it is subjected for a refractor against that risk of refractor is always there, and it may not correct the discrepancy and deformity, which you may have to use the other modalities treatment.
Amputation is one of the recommended treatment for certain process if they have had multiple surgeries and none of them have managed to get a functional limb. And that is beyond reasonable success, even before embarking, you can decide for amputation because amputation is quite accepted and in a child and their function is better with an amputation rather than following multiple surgery and a useless limb.
Some of the complications that you see is you need a careful follow up for residual complications throughout till the skeletal maturity refractory it is 14 to 60% alignment of the tibia, limb discrepancy. Ankle ankle stiffness. This is the treatment algorithm that I put on, as you can see less than two years, you need to brace to prevent fracture and 2 to 8 years you can go for a surgical fixation and more than eight years excellent, fixated on nailing both are acceptable.
The aim is to achieve a symptom free functional limb about the scoliosis. The things that you need to know in this one. Whenever you get, you are shown a slide or a patient with scoliosis. Always make sure that to mention, at least, I would like to look for the features of neurofibromatosis. And the other thing is, what are the features of this topic?
Scoliosis, which is a common exam question. So scoliosis is common in neurofibromatosis. With about 50% of the patients with neurofibromatosis show scoliosis. Only 2% of the patients who present had scoliosis are found to have neurofibromatosis. That is why it is very important even for all sclerotic patients. You need to at least look for features of neurofibromatosis.
The etiology is not clear. The hypothesis proposed may be secondary to Austin, Malaysia, or a tumor eroding and infiltrating the bone endocrine associated disturbances and mesodermal dysplasia. Mainly, we need to recognize the form of scoliosis. There are two types non-destructive and dystrophin. When you come to neurofibromatosis and scoliosis, you need to recognize non dystrophin and dystrophin.
Non dystrophin has got a good prognosis because it behaves like idiopathic adolescent scoliosis, and the treatment almost is the same, whereas the dystrophin scoliosis you need to identify because the prognosis is poor. The nondestructive scoliosis usually presents earlier in onset when compared to the usual adolescent idiopathic scoliosis, but it can progress from non-destructive to dystopic at any stage.
Especially if it present before the age of seven years, so you need to monitor these patients. The traject scoliosis progresses rapidly and has got poor prognosis and there is associated kyphosis, which makes it very difficult to treat. But what are the features of this topic, scoliosis? Usually it involves 4 to six vertebrae, so usually it's scoliosis is quite a long involving many vertebrates.
But destructive scoliosis involves a short segment and usually associated with a sharp curve often presents before the age of six years. It's characterized by scalping of the inflates, which I'm going to show in the next slide in an enlargement and penciling up there. These are the characteristic features of identifying dystrophin scoliosis. 87% of the curves rapidly progress when three or more ribs are pencil, and that is a great prognosis.
It is resistant to brace treatment. Why we need to recognize this because it is resistant to breath treatment and we need to treat early when compared to the rest of the other forms of scoliosis usually necessitates both anterior and posterior fusion. A preoperative MRI is a must in scoliosis associated with neurofibromatosis because it is usually associated with a Kessler or a neurofibromatosis.
So patients with scoliosis in Europe needs early assessment. The common level involved is lower cervical and upper thoracic. As I mentioned, it could be idiopathic and dystrophin. And some of these patients can present as disturbed sleep and excessive snoring, which indicate that there is some respiratory compromise happening because of the deformity and also in the severe scoliosis, patients need pulmonary function tests.
So to approach that diagnosis is easy because the scoliosis is quite obvious. Or if the patient has got neurofibromatosis, look for scoliosis because it is one of the manifestations. The if the scoliosis is the main diagnosis, then you look for features of neurofibromatosis. The examination involves defining the deformity, ascertain the level, look at the flexibility document, the neurological deficit, associated cardiovascular and renal involvement, as well as pulmonary function tests.
The common investigations are routine blood tests, including catecholamines, because patients with neurofibromatosis can have fewer chromosomal and x-rays, CT scan and MRI to assess the cause. This is how it looks like. The clinical picture of scoliosis and the radiological picture. The characteristic features this lady is quite important because it comes up, it pitches up either in situ or in vibha dystopic scoliosis, what are the features?
There is severe wedging of the epicondyle vertebral bodies, strong rotation of the epicondyle vertebrae, scalloping of the vertebral bodies spinning of the transverse process for enlargement penciling of the apocalypse and associated kyphosis. It is important to recognize the dysplastic because breast treatment is ineffective and aggressive approach is required in the treatment.
This is how it looks like, as you can see here, the curve is quite severe. It was only a short segment you can see here this galloping. Yeah, and you can see here the penciling of the ribs. These are quite poor prognostic picture and they are characteristic of this traject scoliosis. The treatment, if it is not dystopic, you can do non operative treatment. Close monitoring the bracing usually not effective for this topic poms, but non dystrophin you can still treat like adolescent idiopathic scoliosis operative treatment involves decompression and bone grafting posted in instrumentation a Usually, it is a combination of both.
And early surgery is recommended less than seven years and the complication rates are high. Serratos is rate is high as well. As you can see here, if it is isolated bas status skeletal fixation, then it is 40% The rate. If you combine both anterior and posterior, it is 10% That's how the fixation is done. Segmental fixation is prepared. So briefly about what sort of like instrument you use.
You don't need to know in depth, but segmental fixation. With instrumentation, this is the treatment chart that is recommended if you are interested. The nondestructive curve less than 20 observed 20 to 40 bres and 40 to 60 is a posterior fixation and more than 60 is anterior fixation for success of any surgery. We need to Dickert typekit abundant bone grafting, segmental instrumentation, medical resection of the pathological tissue and arthritic immobilization post-operative and you can supplement with BNP for dystrophin scoliosis again.
Less than 20 degrees is observed, 20 to 40 degrees is posterior. More than 40 degrees is anterior as well as posterior, and more than 90 degree is anterior resection. There is a process called anterior resection, along with combined anterior and posterior fixation. As I mentioned, the difficulty here is associated kyphosis, which makes it very difficult to treat.
If it is associated with no neurology, you treat it as a curve scoliosis like 50 to 70 40, you go for both anterior and posterior fixation. More than 70 you need anterior resection as well. If it is flexible and the neurology is present, then you need to have preoperative the chest function test, then go for as well as posterior fixation. If not, then go for anterior fixation and anterior resection and fixation both anterior and posterior view.
That is the brief summary. The complication you need to know because it is a high, high risk of pseudoviruses and failure. That is, and that's it. As you said, the buzzword is always multidisciplinary, make sure that you mention it all the time. I thank babu for his excellent presentation, and I apologize, guys for the earlier issue that we had with voice.
Looking forward to seeing you again in the next meeting. Thank you very much. Looking forward to.
Segment:0 .
To over to Dr. Matagorda to talk about neurofibromatosis. Hi, good evening, everyone. Are you are well. This evening, I'm going to talk about neurofibromatosis, which is one of the common topic for emphasis exams, both as the MQ Viva, as well as the clinical examination.
Although it is a rare condition, it is one of the topic like by most examiners. So if the basics, you can easily score points on this. Yeah so how I have laid out my talk is a brief introduction to neurofibromatosis, which overlaps with the two main conditions that we come across in orthopedics that is congenital. So the process of the tibia and scoliosis, obviously, because it is a rare condition, I don't have a hands on experience with this condition, so I have tried to gather as much information that is useful for the exam.
But if you have got any questions that I answer, I will refer and come back to you as soon as I can. OK, so the main thing is. Is the exam oriented topic how to approach on this topic? You are going to be asked, what is a neurofibromatosis? These are the minimum things that you need to know.
What are the diagnostic criteria and what are the orthopedic manifestations of a neurofibromatosis? Particularly important is the genetics, which can be an obscure question quite commonly asked, like what are the common autosomal dominant, recessive, x-linked dominant, x-linked recessive disorders? Kefir lesions. How to identify this, or it can come up as a picture or a slide that you may be asked to identify and then the viewer can go on.
One of the favorite topic is McKeown Albright syndrome, so which I'm going to briefly touch. And then again, there are two topics that I'm going to cover congenital foot, autorisés tibia and the scoliosis, particularly in scoliosis. They are going to ask like, what is the dystrophin curve? What are the features and those sort of things? Everything is basic. So I've not tried to cover in depth each topic, but it is just a flavor.
So epidemiology, it is a rare disorder. It is an autosomal dominant disorder when we talk about OK, neurofibromatosis, most of the times it is neurofibromatosis, one that we are talking, but there are other varieties which I'm going to introduce the later. The most common is the neurofibromatosis one, which constitutes about 90% It is because of mutation or inheritance.
About 50% is a sporadic mutation and 50% is inheritance. It is transmitted as 100% penetrance, which means a genotype as if there is a genotype, which is inherited. It has got a particular phenotype. So if you've got that genotype inherited, you will definitely get those features. So the risk of why it is important, particularly in pediatric age group, is the risk of developing malignancy, which is about up to 8% The main defect is the neurofibromatosis.
And if one gene on long on chromosome 17, this is again an mq question. It is a tumor suppressor gene which regulates the protein neurofibrillary, minimal, which I'm going to touch in the later slide. How it works is the chromosome 17 codes for neural fiber protein that regulates Ros protein pathway signaling pathway. Yeah, that are signaling pathway.
Isn't necessary is a negatively control that means if the neurofibromatosis protein is less the Ross protein signaling pathway acts uncontrolled, which promotes multiplication of these cells. As I mentioned, there are different types of neurofibromatosis. The most common ones are in one which constitutes 90% and the NEP two, which constitute about 2% to 10% The others are very rare.
They are segmental neuroma, ptosis and monomers. I have laid out the difference between NF1 and NF two. The characteristic difference that you need to know is for an nrf2, if you remember bilateral acoustic astronomers and neuroma. That is quite important. Again, it can be asked in the MCU question, as well as via the NF1 was first described by one reckoning.
Huston is a German pathologist. As I mentioned, it is due to the tumor suppressor gene mutation and the protein name is neurofibrillary in protein. Whereas NF2 was described by Wishart as Scottish. It is. Gene defect in chromosome 22 that is responsible for modeling protein synthesis. So as you can see, and if one is neurofibrillary protein. And if two is modeling protein.
So these two are quite important for M6 as well as for Viva. In F2, you see multiple benign tumors, which can become malignant, so that is the main feature. So how the neurofibromatosis, which is one manifest itself? The gene defect affects all the three germ layers ectoderm, mesoderm and endoderm, which means it affects most of the systems in our body.
The main ones are the skin, eyes, nervous system and skeletal system. So the common presentations are in spots, which I'm going to show in the picture later on. It's about 90% of the patients demonstrate co-pilot spot and then multiple fibroblasts. These are the small subcutaneous or deep seated tumors, benign nerve tumors and then less nodules on the iris, which, again, is about 90% There are additional features like learning disabilities, axillary pricking optic gliomas.
Lexi, from neurofibromatosis, scoliosis, Chouinard being displaced and it goes on, but the main features I'm going to show you with the illustration. If you divide the manifestation according to the system involved in the skin, you can see it's part. Interpretation is trickling that is axillary prickling, which can be in the axilo or in the groin or in the memory region. Why it is important is if you get a failed spot in the exam, then you need to look for under the axilo and in the groin because then the examiner thinks that you are thinking in terms of, you know, even if there are none, but you should be able to pick up.
OK, I'm looking for the axilo to pick up if there is any axilo distracting. So these are the things that are quite important. And then the five members can appear either cutaneous, subcutaneous or diffuse, involving the segment of the limb in the eyes, lift nodules, optic glioma and also visual disturbances. In the nervous system. Most of these patients have got learning disabilities and cognition problems.
They also can suffer from Caesar depending on where the location of the tumor. And also common problem is headache because these patients can have due relaxation. The skeleton, it can be so the traces of scoliosis back to excavate them. Captain atom. Limb hypertrophy as it goes on. How they present.
This this slide summarizes how they present at what age, usually cafe alert spots are present by 3 to five years, and if they are not present beyond five years, it is very unlikely that they appear after like that optic glioma up to seven years it can present. And after that, it is very unlikely. But the list of deals maybe there may not be diagnosed up until late adulthood.
Similarly, skin trickling. Neurofibromatosis, scoliosis pseudoviruses and malignant peripheral nerves from this, you appreciate that it is not a unique presentation it can present, it can be diagnosed by an eye examination or an examination of the lower limb. Then you look for other features of neurofibromatosis, so you can diagnose as a bowing of the tibia. Then you look for the neurofibromatosis, so you can imagine what are the systems involved?
It involves ophthalmology, it involves a general practitioner. It involves orthopedics. So it could be a hearing problem. So US specialists, one of these can diagnose because it is such a varied presentation. How to diagnose the Cafarella spots. Yeah, these are mainly found on the trunk and they have got a regular margin.
And it is a pigmented patch. And usually it is multiple it can cross mid line and it has got a regular border. The other differential diagnosis, for copilots part, is Mexican outbreak syndrome, fibrous dysplasia, tuberous sclerosis, Fanconi anemia and silver Russell syndrome. If you look at the illustration, this summarizes the main features of neurofibromatosis, the cafe light sports.
As you can see, this can appear as a slide in the exam both in the MCU as well as in the wiwa, and then the discussion goes on with the details of neurofibromatosis. The neurofibromatosis can be. It is a benign tumor, which is either subcutaneous or it could be deep. It could be multiple. But as the plexiform is, it involves a segment of the limb, usually with massive.
Axilo prickling is a multiple small cafe like sports in the axilo region or in the groin R&D in the region. Optic gliomas, these are the brown, hyperpigmented hematomas patch that is present on the iris. And as you know, skeletal manifestation could be scoliosis 2.0. This is the summary of the slide that I just explained.
These patients are prone for hypertension, so it is necessary to measure blood pressure because it could be a renal vascular problem, or it could be due to few chromosome item, which is another common association found in neurofibromatosis. If you come to the neurofibromatosis to, this constitutes about 10% of the total variations, it is also autosomal dominant neurocutaneous disease.
There's approximately about one in 25,000. Mutation is on chromosome 20 to kafala, its parts are less numerous when compared to neurofibromatosis 1. But the characteristic feature here is bilateral vestibular monomers. So if you get an exemption where bilateral vestibular astronomers think of neurofibromatosis two, they can develop in other cranial nerves, spinal nerves and cutaneous nerves.
Now they can also double up meningiomas gliomas slit lamp examination is quite important because it can reveal subscapularis lengths capacities in children. So it is one of the screening tests that is used and multiple lymphomas can be seen on the trunks, thighs and distal arms. So if you look at this picture here, you can see. The spinal tumors, and this is the acoustic neuroma that is.
They so this slide is quite important because of the varied presentation. And it can present at various stages. For diagnosis, the National Institute of Health has made certain criteria. For neurofibromatosis, five bombers, one type 1. There are at least two of the following six to seven characteristics that should be present at least six elite sport.
If it is pre prebuttal, it can be millimeter more than millimeter or less than 15. But if it is most pivotal, it has to be more than 15 to fit into the criteria. It could be neurofibromatosis. It can be multiple or it can be one plexiform neurofibrillary, which is involving a segment of the limb and then axillary prickling the groin prickling that I mentioned optic nerve glioma, at least two little nodules and distinctive Usher's dysplasia like the tibial pseudoviruses or this P0 dysplasia and then affected first degree relative.
But as for the new role for Obama to. Either a or b, if it is a bilateral acoustic nerve mask, which is diagnosed either by CT or MRI. That is enough to make a diagnosis of neural tube. Or it could be the other features like first degree relative and associated unilateral acoustic neuroma, neuro meningioma, glioma Sonoma and then subscapularis lens opacities.
So how are you going to diagnose the diagnosis is mainly clinical once you identify are suspected is an 05 rumor, then you investigate, depending on what is the presenting symptoms. In terms of investigation, the common investigations that are routinely used and helpful are the CT, MRI scan, PET scan biopsy of the but usually is not necessary unless it is a variant where.
You have not come to a diagnosis or suspicion of a diagnosis of the program, then you can do a biopsy. You can do mosaic diagnostic testing with this capability, but that is where it is necessary biopsy of the needle fibroblasts are also not necessary unless it needs excision because of the symptoms when you can send it for biopsy. And then genetic testing, molecular testing of the RNA based NF1 mutation.
This is to confirm the diagnosis and also differentiate from other similar disorders like lygia syndrome. One of the common differential diagnosis are the exam question is mcewan Albright syndrome here also you see kefaya late spot, but these are irregular. And if you look at it, it is quite large and they don't usually cross the midline and their bodies are irregular, as you can see here.
Yeah, it is also the coast of Maine, whereas the copilot's parts in Europe number one coast of California, where it has got regular margin. It is the other features are apart from the copilot's parties, precocious puberty, all your fibres, dysplasia and it is related to DNA is one gene locus in chromosome band 20. Again, this is an obscure question. So some have to remember these are all factual and you have to remember some of the other differential diagnosis is the lygia syndrome Noonan syndrome, facial cutaneous syndrome ring chromosome.
But one of the buzzwords to mention, if you are stuck is how are you going to manage? Then you have to mention it is a multidisciplinary approach. If you don't know anything or nothing comes to your mind just mentioned, it is a multidisciplinary approach because it has got such a varied presentation. So you need to have multiple specialists involved to give a comprehensive care.
The multidisciplinary team in usually neurosurgeons, spinal surgeon, you name it, most of the because it affects almost all the systems in the body. Yeah with regard to treatment, there is no cure for neurofibromatosis. The only thing that we can do is detect early monitor for symptoms and then do symptomatic treatment that is absolutely necessary. They are routinely monitored even if they are not symptomatic, and annual examination is recommended because it is.
It happens to be common in pediatric group presentation, so it needs to be monitored till they attain skeletal maturity or at least annually. The growth and development, monitoring, ophthalmology examination, neurological examination, hearing tests, blood pressure and scoliosis examination, these are the minimal that you need to do with annual examination. With regard to the treatment, if it is turning out to be cancerous or suspicion, then you confirm the diagnosis.
And you can treat with chemotherapy and radiation therapy, which is beyond the scope of this talk. And with regard to surgery, certain tumors need removal because of the pressure effect, or it could be because of the malignant transformation. And most of these patients need genetic counseling. Now we need to have a system how to prevent from patients getting neurofibromatosis.
It's just not possible because in 50% of the cases, it is spontaneous mutation. But those who have got neurofibromatosis, they can be counseled and primary prevention can be applied. For example, avoidance of conception, if they don't have children, they don't pass it on. And if one parent has got the problem, the other person can have a donor to achieve the conception.
And pre-implantation diagnosis, where you either examine the sperm or the Rover and make sure that it is mutant pre before fertilization. Yeah, and the antenatal diagnosis. Suppose that if the conception has happened. And if you detect that this patient, this child is going to be born as a neurofibromatosis, then you terminate the pregnancy, that is how the primary prevention works.
But as the secondary prevention is to identify, monitor and treat the manifestations, it is mainly by neuropathy from our specialty clinic. It is set up both national as well as the local level with support groups. In UK, we have got the neural foundation, which monitors these groups. There is a neutral imaging, which is available presymptomatic, particularly optic glioma to identify and then IQ and psychological testing is also done in school.
School children. Which is as a screening procedure. Why genetic monitoring is required is to provide accurate medical and genetic information and dispel the common myths. This neurofibrillary clinic, it has got multidisciplinary specialists who are going to achieve this. They are going to monitor.
There will be a detailed examination and documentation of pain, neurology and then the growth, the cognition. All these are monitored and documented, it is entered on the database. This is how annually the patients are monitored. This needs to go on the record all the visual symptoms head circumference, height, weight, people, pubertal development, blood pressure, cardiovascular.
The cardiovascular system is also important in children because they are prone for congenital heart disease pulmonary stenosis, then skeletal examination examination of the skin. This kidney examination prior to school enrollment to identify the late spot. The clinicians need to be aware of all the manifestation to identify these in early stages.
That is why these are specialty clinics and run by the specialist. The IQ testing is generally recommended, and the recent recommendation is to have a whole body MRI scan to know the tumor burden. Particularly in children, when they are going to become adults. And these patients are also prone for breast cancer and poor prognosis.
One of the screening program is to introduce mammography or MRI at around 30 to 30 years of age. Screening is not necessarily only for the patients and the families, it is also for first degree relatives because they could have undiagnosed clinical features. So all first degree relatives should be screened skin and slit examination, slap examination is performed and determine whether the case is familial or sporadic, where you can avoid and take primary prevention measures.
Counselling is very important because this is a condition which you cannot cure, so family and the parents are worried. So psychiatric counseling is quite important and social support groups. And also, it focus on the prognosis. Genetic risk of future offspring and also psychosocial adjustment. Some of the trial drugs that are going on at the moment. As you can see, they are quite long.
Mitogen activated protein kinase kinase inhibitors, orally administered muscle blockers. They've got some promising results, but none of them have been quite successful to recommend by the FDA. The prognosis the prognosis can be because of the varied presentation, it can be good or it can be worse, but it is a stressful period where it can progress.
And there is always a risk of things going wrong, things becoming malignant and symptomatic. These patients usually die before the age of 50 years because of changes to malignancy and also cardiovascular problems. Now, that is the brief introduction to the neurofibromatosis, but about orthopedic problems that we encounter as surgeons and scoliosis kyphosis.
Atlanta axilo instability in about 2003 of the patients with neurofibromatosis 026 is present in about 5% to 6% hemi hypertrophy of the limb in 1.4% fibroblastic. 25% limb blending inequality 7.1% some rare conditions, like plane pesca was telepaths doing dysplasia, but this exoskeleton and can be present. Well, here, one of the common questions that is asked in the exam waiver is what are the orthopedic problems that you can encounter with patients in europe?
That is why I put in this slide. It's quite important. The orthopedic manifestation one of these could be very slight. And the why was slide and the discussion goes on. There is the further the orthopedic manifestation of the neurofibromatosis, I'm going to cover two topics briefly. One is congenital sodertalje seems to be, again one of my favorite topics of the examiners and the scoliosis congenital through the traces of the tibia.
Is one of the most challenging and misunderstood condition. It's about one in 250,000 incidents. This manifests usually before two years. The etiology is unclear. It can develop spontaneously or after a terrible trauma, usually diagnosed as a pseudo process or nonunion of the tibial fracture. It happens in distal plastic segment of the tibia, which is usually the distal tibial type.
It is found in about 6% of the patients with neurofibromatosis, but. In about. 55% of the patients with congenital disease usually have neurofibromatosis. 15 percent, it could be due to fibrous dysplasia. The association of pseudoviruses with neurofibromatosis. It doesn't affect the outcome. They behave in the same way, which is a difficult problem to treat.
It is a segmented displays here, usually results in anterolateral bowing of the tibia. One of the exam question is differential diagnosis of bowing of the tibia that is anterolateral bowing and remedial bowing, both from medial bowing. So you need to know a few conditions which affect these different bowing of the tibia. So anterolateral bowing is characteristic of neurofibromatosis.
When you get this in the exam, which is a possible because it is a painless condition, look for other manifestations of neurofibromatosis, that is what the examiner is looking for, looking for its part. Let's not yield axilo reflecting neurofibromatosis. Yeah once the fracture occurs, there is a little scope of spontaneous healing, or sometimes even with multiple interventions.
There are surgical methods. Once it is fractured, usually the treatment is invasive, but there are some non-invasive novel treatment, which is coming up in the form of electrical stimulation and BNP. Which is adding to the success rate of the invasive treatment. What is it pathogenesis? The bone Assad is weak mechanically, and also it's osteogenic capability is less.
Why? because. In this little part where the keratosis site is. The tissue is vascular. There is abnormal tissue in the PTSD that encroaches on the bone. It has got high, osteoclast resorption, very poor osteogenic potential. This leads to reactive changes in the rest of the bone, causing the position of the trabecular bone.
That's why you see thickening of the cortex sclerosis of the medulla. And also, excess resorption lead to systemic changes. Impaired vascularization is the main cause for decreased osteogenic capabilities. Sometimes it is also called the buzzword hematoma test tissue. The so the histopathological, it is the fibrous hematoma, which is the culprit here.
They love feet. Strangled the pedal steel blood vessels, which becomes fibrotic and vascular. That is one of the hypotheses that is to explain the pathogenesis of. Sort of process, there is variable mixture of fibrous tissue, fiber, cartilage, hyaline cartilage with evidence of some disorganized and classification at this site.
As you can see here, that is a girls team that is the bone. Whereas the parietal tissue, which is the serratus tissue, encroaches onto the bone. That is causing a vascular atrophic boom. Yeah, the appearance causes strangulation of the bone with a atopic and vascular tissues developing, and it surrounds the tibia causing compression or stabilizes cyst formation.
And so the process. The clinical manifestation, what you need to look for if you see a Boeing, which is usually a trilateral Boeing, is skin dimple there is a small dimple. If you look closely at around the apex of the deformity, you'll see a small skin dimple, which is a telltale sign. It could be neurofibromatosis. And they're a little Boeing. And most of the times you will end up in leg length discrepancy because of the Boeing, as well as because of the dysplastic bone.
It can end up in 0 trust present as it utterances are only Boeing. And also, it could fracture with without trauma or with a terrible trauma. Look for other features of anterolateral Boeing association like lateral ray deficiency while his foot. Some of the features associated neurofibromatosis and fibrous dysplasia you need to look for. So these are the conditions where, where and if you see a patient with an collateral Boeing, you look for manifestations of neurofibromatosis.
What are the investigations, usually the X-rays X-rays shows cortical thickening fracture, medullary sclerosis, atopic bone osteopenia, sharp bone deformity, the joints above and below. Magnetic resonance imaging is helpful to know the extent of the disease and also helps preoperative planning to know how much to restrict. And also, it tells about the morphology of process taken Petrus's team, and they are decent soft tissue if there are any neurofibromatosis fibroblasts that are associated.
The other helpful investigations very rarely used our CT scan and bone scan. There are several classifications, as you can see the difficulty in the management, the more complex it is. Everybody comes up with a different classification to make the treatment simple. There are Anderson, Boyd, Crawford, pally, etc., but no one classification.
The simplest is proper classification, which is not dysplastic and dysplastic. It is four types in non dysplastic. They enter lateral bowing with increased density of the cortex and sclerosis of the medulla, but there is no fracture. Whereas in type two, which is dysplastic and there is a little Boeing with failure of the tubular aviation, as you can see here, the tubular is affected.
I think there are systemic changes and is Frank slap. Our treatment, the diagnosis is not difficult, but the treatment is the main thing, which is very difficult. The aims of the treatment here is to excise the pathological tissue because as long as the pathological tissue is there, it is not going to heal. And to get to excise the pathological tissue, you will be left with a segmental defect that you may have to stabilize.
You have to create an environment for the bone to heal. So biological bridging, which is autograft or fibular graft vascularized. And the aim for long term bone union, because these although it can heal, it can form a full bone. It is subjected for real practice, so you have to protect it till they become adults. There are associated problems that you have to treat it, just not excision of this process and getting the bone to heal.
There are deformities associated which you need to correct. You need to look at the soft tissues giving the coverage to the area, soft tissue lesions nearby joints like the ankle and the knee if they've got any deformity you need to address. The main thing here, if it is only bowing the treatment, is prevention of the fracture and also if a fracture is up as it happened and you have treated and it has healed is to prevent the fracture.
There is no single treatment, which is widely accepted. You can try any sort of acceptable treatment. I'm going to narrate for you the success claims have been variable from 30 to 100% As you can see, these are the things that have been tried. This is an intermediary rod, which is a telescopic rod where you exercise this lesion. Put a bone graft. Correct, the deformity performance tenotomy and then fix it with telescopic rod as the child grows.
Once the fracture heals. It gives that stability as well after the union and prevent fracture. If there is associated deformity, it is one of the fixator. Elizabeth fixator that helps to correct the deformity that is associated. So the treatment options are bone grafting, which is common for any associated treatment that you offer along with the interval or inhaling or external fixator, usually vascular is fibular graft is used at a later stage, not as a primary treatment treatment in some cases, you have to go for amputation when it has failed.
And the other operative treatment is electrical stimulation and the BNP, which is an adjuvant. The surgical time, when are you going to operate the epos, the European pediatric orthopedic society recommend surgery after age of five years and they categorically say you should not perform below before a third birthday, basically because the size of the child is small to take a major intervention and also difficulty in harvesting the graph and the fixation of process will be very poor.
You won't get a stable fixation. Usually when there is the sort of traces of the tibia, 2/3 of the cases that will be associated tubular stresses as well, it is necessary to treat the fibula through the process as well with the tibia because you need to have the optimal alignment and also sound healing. The success rate will be high. If you treat both.
If the fibula is unaffected, then you may need to do fibula osteotomy when you treat the fibula tibial. There is higher incidence of healing when you treat both these utterances together. You may need ankle stabilization for in one synthesis and distal tibial fusion to prevent the deformities. Some of the instruments that are used, you need to be aware of the telescopic rod name of at least a couple of the routes that are used, like Sheffield rod, which which has got male post, female post.
And then it expands as they bone growth. The other one is fussier. Dual rod Bailey double Charlie Williamson. The advantages of the intermediate is simple, cheap, reproducible, provide stability, prevent fracture because it can be left in the bone. Negligible donor site morbidity, it can be combined with other modalities like BNP and bisphosphonate.
The disadvantages are in children. You have to cross the ankle joint and also slap subtalar joint. It can lead to joint stiffness and fracture after removal is a common. But exclude fixator. The advantages are the same as with any external fixator, it can allow correction of the deformity Lackland. It allows the extension of the proximally and distally to correct the deformities of the joint, and you can simultaneously do correction of all the associated deformities and discrepancy.
And it gives a better axilo angular and traditional stability, particularly lesra, for early mobilization. But of course, it has got its own disadvantages, like a long time in the fixator. It is cumbersome and may not be like the patient's vascularized fibular graft. One of the treatment that you need to know is what arteries examiners can be to give you that extra mark from seven or eight.
They may ask, what are the arteries that are involved? So you need to know a tibial arteries and uttermost to the baronial artery subpoenas when is an estimate to the baronial vein? The advantages of tubular graft is you can take if the segment of the same bone the fibula is not involved. You can use the lateral or you can use the contralateral. It offers a good biological environment, which is an autographed.
It has got a high success rate, both as a primary procedure as well as for revision surgeries usually needs a secondary bone graft if the ligament discrepancy is more than 5 centimeters and the resection is more than three centuries. Most of the times it is not used as a primary procedure because it is costly and needs the technical expertise. A it is subjected for a refractor against that risk of refractor is always there, and it may not correct the discrepancy and deformity, which you may have to use the other modalities treatment.
Amputation is one of the recommended treatment for certain process if they have had multiple surgeries and none of them have managed to get a functional limb. And that is beyond reasonable success, even before embarking, you can decide for amputation because amputation is quite accepted and in a child and their function is better with an amputation rather than following multiple surgery and a useless limb.
Some of the complications that you see is you need a careful follow up for residual complications throughout till the skeletal maturity refractory it is 14 to 60% alignment of the tibia, limb discrepancy. Ankle ankle stiffness. This is the treatment algorithm that I put on, as you can see less than two years, you need to brace to prevent fracture and 2 to 8 years you can go for a surgical fixation and more than eight years excellent, fixated on nailing both are acceptable.
The aim is to achieve a symptom free functional limb about the scoliosis. The things that you need to know in this one. Whenever you get, you are shown a slide or a patient with scoliosis. Always make sure that to mention, at least, I would like to look for the features of neurofibromatosis. And the other thing is, what are the features of this topic?
Scoliosis, which is a common exam question. So scoliosis is common in neurofibromatosis. With about 50% of the patients with neurofibromatosis show scoliosis. Only 2% of the patients who present had scoliosis are found to have neurofibromatosis. That is why it is very important even for all sclerotic patients. You need to at least look for features of neurofibromatosis.
The etiology is not clear. The hypothesis proposed may be secondary to Austin, Malaysia, or a tumor eroding and infiltrating the bone endocrine associated disturbances and mesodermal dysplasia. Mainly, we need to recognize the form of scoliosis. There are two types non-destructive and dystrophin. When you come to neurofibromatosis and scoliosis, you need to recognize non dystrophin and dystrophin.
Non dystrophin has got a good prognosis because it behaves like idiopathic adolescent scoliosis, and the treatment almost is the same, whereas the dystrophin scoliosis you need to identify because the prognosis is poor. The nondestructive scoliosis usually presents earlier in onset when compared to the usual adolescent idiopathic scoliosis, but it can progress from non-destructive to dystopic at any stage.
Especially if it present before the age of seven years, so you need to monitor these patients. The traject scoliosis progresses rapidly and has got poor prognosis and there is associated kyphosis, which makes it very difficult to treat. But what are the features of this topic, scoliosis? Usually it involves 4 to six vertebrae, so usually it's scoliosis is quite a long involving many vertebrates.
But destructive scoliosis involves a short segment and usually associated with a sharp curve often presents before the age of six years. It's characterized by scalping of the inflates, which I'm going to show in the next slide in an enlargement and penciling up there. These are the characteristic features of identifying dystrophin scoliosis. 87% of the curves rapidly progress when three or more ribs are pencil, and that is a great prognosis.
It is resistant to brace treatment. Why we need to recognize this because it is resistant to breath treatment and we need to treat early when compared to the rest of the other forms of scoliosis usually necessitates both anterior and posterior fusion. A preoperative MRI is a must in scoliosis associated with neurofibromatosis because it is usually associated with a Kessler or a neurofibromatosis.
So patients with scoliosis in Europe needs early assessment. The common level involved is lower cervical and upper thoracic. As I mentioned, it could be idiopathic and dystrophin. And some of these patients can present as disturbed sleep and excessive snoring, which indicate that there is some respiratory compromise happening because of the deformity and also in the severe scoliosis, patients need pulmonary function tests.
So to approach that diagnosis is easy because the scoliosis is quite obvious. Or if the patient has got neurofibromatosis, look for scoliosis because it is one of the manifestations. The if the scoliosis is the main diagnosis, then you look for features of neurofibromatosis. The examination involves defining the deformity, ascertain the level, look at the flexibility document, the neurological deficit, associated cardiovascular and renal involvement, as well as pulmonary function tests.
The common investigations are routine blood tests, including catecholamines, because patients with neurofibromatosis can have fewer chromosomal and x-rays, CT scan and MRI to assess the cause. This is how it looks like. The clinical picture of scoliosis and the radiological picture. The characteristic features this lady is quite important because it comes up, it pitches up either in situ or in vibha dystopic scoliosis, what are the features?
There is severe wedging of the epicondyle vertebral bodies, strong rotation of the epicondyle vertebrae, scalloping of the vertebral bodies spinning of the transverse process for enlargement penciling of the apocalypse and associated kyphosis. It is important to recognize the dysplastic because breast treatment is ineffective and aggressive approach is required in the treatment.
This is how it looks like, as you can see here, the curve is quite severe. It was only a short segment you can see here this galloping. Yeah, and you can see here the penciling of the ribs. These are quite poor prognostic picture and they are characteristic of this traject scoliosis. The treatment, if it is not dystopic, you can do non operative treatment. Close monitoring the bracing usually not effective for this topic poms, but non dystrophin you can still treat like adolescent idiopathic scoliosis operative treatment involves decompression and bone grafting posted in instrumentation a Usually, it is a combination of both.
And early surgery is recommended less than seven years and the complication rates are high. Serratos is rate is high as well. As you can see here, if it is isolated bas status skeletal fixation, then it is 40% The rate. If you combine both anterior and posterior, it is 10% That's how the fixation is done. Segmental fixation is prepared. So briefly about what sort of like instrument you use.
You don't need to know in depth, but segmental fixation. With instrumentation, this is the treatment chart that is recommended if you are interested. The nondestructive curve less than 20 observed 20 to 40 bres and 40 to 60 is a posterior fixation and more than 60 is anterior fixation for success of any surgery. We need to Dickert typekit abundant bone grafting, segmental instrumentation, medical resection of the pathological tissue and arthritic immobilization post-operative and you can supplement with BNP for dystrophin scoliosis again.
Less than 20 degrees is observed, 20 to 40 degrees is posterior. More than 40 degrees is anterior as well as posterior, and more than 90 degree is anterior resection. There is a process called anterior resection, along with combined anterior and posterior fixation. As I mentioned, the difficulty here is associated kyphosis, which makes it very difficult to treat.
If it is associated with no neurology, you treat it as a curve scoliosis like 50 to 70 40, you go for both anterior and posterior fixation. More than 70 you need anterior resection as well. If it is flexible and the neurology is present, then you need to have preoperative the chest function test, then go for as well as posterior fixation. If not, then go for anterior fixation and anterior resection and fixation both anterior and posterior view.
That is the brief summary. The complication you need to know because it is a high, high risk of pseudoviruses and failure. That is, and that's it. As you said, the buzzword is always multidisciplinary, make sure that you mention it all the time. I thank babu for his excellent presentation, and I apologize, guys for the earlier issue that we had with voice.
Looking forward to seeing you again in the next meeting. Thank you very much. Looking forward to.
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