Author: Michelle Cole

What’s In A Name? An Expansive Review of the Name and Definition of Chiari Malformation

Published: 4 September 2018
Written by Michelle Cole
No comments
Categories: Acquired Chiari Malformation, Atlantoaxial Instability, Craniocervical Instability, Ehlers-Danlos Syndromes, Empty Sella Syndrome, Etiological Co-Factors, General Information, Heritable Disorders of Connective Tissue, Hydrocephalus, Idiopathic Intracranial Hypertension, Intracranial Hypertension, Intracranial Hypotension, Tethered Cord Syndrome

THE DEFINITION OF A CHIARI MALFORMATION HAS BEEN LONG DEBATED. IT REALLY IS NO WONDER THAT PATIENTS AND MEDICAL PROFESSIONALS ALIKE ARE CONFUSED. THEN, WITH US FULLY UNDERSTANDING ALL SIDES OF THE DEBATE, WE DEFINED A CHIARI MALFORMATION AS STRUCTURAL DEFECTS IN WHICH THE CEREBELLUM, THE HIND PART OF THE BRAIN, DESCENDS BELOW THE FORAMEN MAGNUM INTO THE SPINAL CANAL. THIS DEBATE IS BEING ANALYZED THIS YEAR, AS CERTAIN ORGANIZATIONS ARE BRAVING TO ATTEMPT TO BRING DOCTORS ALL UNDER ONE UNIFORM DEFINITION AND DIAGNOSTIC CRITERIA. THEREFORE, AMIDST ALL THE CONFUSION AND DEBATE, WE WANTED TO EXPLAIN THE FACTORS INVOLVED, AND WHY WE WENT WITH THE DEFINITION THAT WE DID, AND WHY ONE STANDARD IS SO IMPORTANT!

To better facilitate our explanation, we will call all associated terms by their specific medical names:

Tonsillar Ectopia (TE) = tonsillar herniation of any size
Posterior Fossa Hypoplasia (PFH) = an underdeveloped posterior fossa

Chiari Malformation Vs. Arnold Chiari Malformation

The most common type of Chiari is Type 1 (which includes a Chiari 1.5, where the brainstem is also below the foramen magnum). Many people use the term “Chiari Malformation” when diagnosed with Type 1, while others cling to the name “Arnold Chiari Malformation” with the same diagnosis. Is there a difference? The name “Chiari Malformation” came from Hans Chiari, an Austrian pathologist, who first discovered the malformation in the late 19th century.[1, 2] Julius Arnold, a German pathologist, later expanded on Chiari Type 2, and Type 2 took on his name “Arnold Chiari Malformation.” Therefore, technically speaking, a Chiari Malformation and an Arnold Chiari Malformation are not the same; Arnold Chiari Malformation is specific to Chiari Type 2 (which usually includes a myelomeningocele, the most serious form of Spina Bifida). However, they are used interchangeably by many, even by medical professionals and the misnomer is of little consequence one way or the other.[3]

Chiari Malformation = Posterior Fossa Hypoplasia Theory

Many ascribe to the theory that a Chiari Malformation ONLY consists of a posterior fossa hypoplasia (which means that the back of the skull is malformed, and therefore the cranial area (space) at the rear is too small). They believe that a tonsillar ectopia is only a symptom, and a Chiari Malformation can exist with or without an accompanying ectopia. This argument is not without merit, because much of what was initially being looked at by Hans Chiari were deformities in the posterior skull upon postmortem examination (so there wasn’t soft tissue to analyze). He originally attributed much to hydrocephalus, but expanded his research into the pons, medulla oblongata, and cerebellum (which can all be attributed to intracranial pressure as a pathology of a “tonsillar ectopia”). To ascribe to this belief would also mean that “Acquired Chiari Malformations” cannot exist, as one doesn’t “acquire” a small posterior fossa. And that would also mean that Chiari Type 2, Type 3 and Type 4 technically would not be a Chiari Malformation at all either, since their definitions do not require a posterior fossa hypoplasia. Perhaps type 3, which has an opening at the back of the skull, but no “small posterior fossa” is even implied in the definitions.

But to look at the full history of what became known as a Chiari Malformation, we can begin by looking at the research of a German pathologist, named Theodor Langhans. In his research in 1881 (a decade before Hans Chiari conducted his research on what became known as a Chiari Malformation), while looking at syringomyelia (“a cavity created in the spinal cord”), he noted a “change in the cerebellar cavity.” Upon dissection of the cerebellum, he described the cerebellar tonsils as “two symmetrical pyramidal tumors,” pushing the brainstem forward.[4] In fact, the other noted researchers: Nicholas Tulp (1593–1674), John Cleland (1835–1925), and Julius Arnold (1835–1915), all centered on the hindbrain hernia [herniation] without speculation as to its etiology/pathology. It is said that “many of the English translations of Chiari’s work contain inaccuracies.” But note that Chiari’s first paper was on “ectopia of cerebellar tissue,” and that he went on to define Type 1 as showing, “elongation of the tonsils and medial parts of the inferior lobes of the cerebellum into cone shaped projections, which accompany the medulla oblongata into the spinal canal.”[5] Which sounds like what is now known to be a Chiari 1.5. Much later, in 1938, at a time when the posterior fossa decompression became the popular surgical treatment for a Chiari Malformation, a Chiari 2 patient “underwent posterior fossa exploration with the authors not considering hindbrain herniation in their differential. Penfield and Coburn later stated that: ‘In retrospect it seems that we should have suspected the Arnold-Chiari malformation. Instead, a suboccipital craniotomy was carried out…” So even the early neurosurgeons seeking to perfect their surgical treatment felt that it was a mistake to concentrate on the posterior fossa and not take into account etiologies of the hindbrain herniation. That mistake is still going on 80 years later.[6]

The biggest problem that they are going to have with strictly defining a Chiari Malformation as a small posterior fossa resides in the fact that the diagnosis criteria for a Chiari Malformation only consists of ONE MEASUREMENT, the length of the tonsillar ectopia (how far the tonsils herniate below the foramen magnum). Generally, there are no measurements of the posterior fossa taken when radiologists make the initial diagnoses. Furthermore, most neurosurgeons see the radiology reports, and depending on symptomology, they make the decision to decompress or not to decompress without ever measuring the size of the posterior fossa. Most never look for (and often do not know about) etiological/pathological cofactors that could have been causing the tonsillar prolapse in the first place.

Where does this assumption leave us?
Unfortunately it leaves most of us with failed decompressions, fighting with our neurosurgeons that “something is still wrong.” These neurosurgeons look at their post-operative checklist and see that they successfully did everything surgically required in their out-of-date textbooks:
  1. Suboccipital bone was appropriately decompressed. ✔️
  2. Dura was opened and dura patch was successfully inserted. ✔️
  3. Lamina was successfully removed from the C1 (and sometimes the C2 as well). ✔️
They did all that was required of them based on the diagnoses presented! They don’t have time (or don’t care) to look beyond that, so once again, the idea of our continued symptoms are thought of as being psychosomatic.
 
While we applaud the efforts of those seeking to get a measure of consistency in how Chiari is defined, the truth remains that until the diagnosis criteria is changed as well, we are being diagnosed with Chiari Malformation based on our tonsillar herniation; it is presumed to be congenital; we are being surgically treated as though it is congenital, and we are ending up with failed decompressions. This confusion is beyond unacceptable, it’s reprehensible!
When it is all redefined, hopefully we will have a well defined diagnosis criteria, or it is all irrelevant. And the many that really did acquire what was assumed to be “congenital” who are now being told that they do not have Chiari Malformation at all, will be able to get lawyers for “an improper diagnosis” that lead to the incorrect brain surgery being done. There are surgeons coming around and finally seeing that there is merit to these studies that have been done since the late 1990s, that have shown a pushing/pulling effect that can cause the tonsillar ectopia that gets us diagnosed with a Chiari Malformation, and we applaud them for having the integrity to stand up and get it right. That’s exactly what we need and deserve!
If you were diagnosed with a Chiari Malformation and want to know how all of this might be affecting you, we encourage you first to find your initial radiology reports, and see if there were measurements taken of the posterior fossa. And then wait with that information… wait and see what changes are actually made to the definition. While you are waiting learn. Learn everything you can about every etiological/pathological cofactor, and every comorbidity. If it is “officially” redefined as a small posterior fossa, we will have to work together as a community (like we always do) to help lawyers see how we have been getting lost in the shuffle, year after year. If it’s not officially changed and Chiari continues to be defined as a structural defect involving the cerebellar tonsils, we will have to continue in our fight to make these cofactors of Acquired Chiari Malformation known!

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References:

1 Tubbs, et al. “Hans Chiari (1851–1916).” Journal of Neurology, Pioneers in Neurology, Springer Berlin Heidelberg, 26 Mar. 2010, <https://link.springer.com/article/10.1007/s00415-010-5529-0>.

2 “Hans Chiari.” Whonamedit – Dictionary of Medical Eponyms, <www.whonamedit.com/doctor.cfm/1123.html>.

3 Tubbs, R. Shane, and W. Jerry Oakes. The Chiari Malformations: A Historical Context . 2013, <https://pdfs.semanticscholar.org/79dd/127d31820d612600c0b032225437295d86c3.pdf>.

4 Mortazavi, M M, et al. “The First Description of Chiari I Malformation with Intuitive Correlation between Tonsillar Ectopia and Syringomyelia.” Advances in Pediatrics., U.S. National Library of Medicine, Mar. 2011, <https://www.ncbi.nlm.nih.gov/pubmed/21361763>.

5 Pearce, J M S. “Arnold Chiari, or ‘Cruveilhier Cleland Chiari’ Malformation.” Journal of Neurology, Neurosurgery & Psychiatry, BMJ Publishing Group Ltd, 1 Jan. 2000, <https://jnnp.bmj.com/content/68/1/13>.

6 Mortazavi, Martin M., et al. “The First Posterior Fossa Decompression for Chiari Malformation: the Contributions of Cornelis Joachimus Van Houweninge Graftdijk and a Review of the Infancy of ‘Chiari Decompression.’” SpringerLink, Springer, Dordrecht, 6 Apr. 2011, <https://link.springer.com/article/10.1007%2Fs00381-011-1421-1>.

DEAR FAMILY (***Revised: Clean Version***)

Published: 11 August 2018
Written by Michelle Cole
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Categories: Expressive Writings, To Family/Friends

FOR ALL MY NON-CHIARI FAMILY MEMBERS AND FRIENDS… I really NEED you to listen to this and just try to understand! 


I know there’s absolutely NOTHING I can say to help you understand the pain that I go through; what it feels like to have pain all the time, in places that I didn’t even know that I could have pain in. To feel like someone is grabbing the back of your skull at your neck and literally trying to pull your skull right off of your head. I know there’s NOTHING I can say or do, to tell you how discouraging it is to have doctors tell you that they have “no idea why you’re hurting so bad,” and suggest that you should see a therapist, because obviously, if they don’t see it, it must be just psychological. And while I know your intentions are good and I know that you love me, I CANNOT think of anything to say to help you understand how incredibly hurtful it is to have those that are supposed to love you the most, those shoulders that are supposed to be there for you to lean on, tell you that you’re having a pity party, or  how they “wish you wouldn’t talk about it all the time” (and sometimes it’s not said that nicely either). And for MY KIDS and HUSBAND to have to carry so much on their shoulders and to feel like they have nobody to talk to about it, because everyone’s “tired of hearing about it.” And worse, since it’s genetic, for them to see how you treat me in my pain, and fear that if they’re diagnosed, that you will treat them the same.


You don’t understand, but my brothers and sisters with Chiari do. They understand it all, because they’re living it too. I know you don’t understand the bond that we have, but even though we’ve never met face-to-face, we’ve cried so many tears, and prayed through so many surgeries together; we’ve lost friends together while doctors still try and claim that Chiari can’t kill you (even with death certificates that say Chiari in hand). We’ve lost friends that just couldn’t take the pain anymore, and we cry together because we know that those thoughts have been our own and we struggle to find a way to keep pressing on, together! I know you don’t understand the bond, but it’s real.


I’m not saying all this to make you feel bad, God forbid you feel bad, I’m saying this because I STILL NEED YOU. You weren’t put in my life by mistake and what I’m going through physically and mentally is frightening and heart-breaking and I need you here by my side. You think you don’t have time to see me through all these surgeries and diagnoses, I don’t either. There’s so much more that I wanted to do with my life and now I just want to hold my head up without pain. I NEED you to change your heart towards me and all that I’m going through. I need you to call me, and just love on me. I need you to remind me of all that I am, despite my pain – that I’m stronger than I often feel like I am. I need you to remind me that there is still value to me still being here on earth. Because in those dark moments, when I look at all I’ve lost and everything that my family has lost through this fight, I need to hear it in someone’s voice besides my own. I need you to remind me how important it is that I fight this vigilantly, so that if God forbid one of my kids have to fight this fight, I will be the best possible advocate I can be for them. They’ve missed out on so much with me being sick. And should my fight on earth come to an end, I need you to stick to them like glue, and help them know how fantastic they are and that they’re not alone. Remind them that their stronger than they think, just like their warrior mom! Remind them that they have a purpose and a destiny to fulfill on earth, and to not to let anything stand in the way of that. If they get knocked down, pull them up again, every single time! Don’t worry, I’m not planning on going anywhere, this isn’t a suicide note or anything. I still have every intention of changing this fight of mine and winning it. But it’s hard sometimes and I really need you to fully understand how much I NEED YOU! Help me win this!


***Michelle originally wrote this on Facebook in 2016, with tears streaming down her face. The response from the Chiari community was astounding. What was astounding was not that so many liked it, but that so many Chiarians resonated with the heartbreak of it. It has been slightly edited for publishing. It was originally written with explicit language, that we at Chiari Bridges felt was a “most accurate” representation of the raw emotions that so many of us feel when we encounter these types of struggles in our family dynamics. However, this “clean” version is being created, for those to that are not comfortable sharing content with “strong language,” but still relate to the article and wish to share it.

The original (explicit version) of this article.

DEAR FAMILY (***Strong Language***)

Published: 9 August 2018
Written by Michelle Cole
1 Comment
Categories: Expressive Writings, To Family/Friends

FOR ALL MY NON-CHIARI FAMILY MEMBERS AND FRIENDS… I’m going to cuss, but I really NEED you to listen to this and just try to understand:


I know there’s absolutely NOTHING I can say to help you understand the pain that I go through; what it feels like to have pain all the time, in places that I didn’t even know that I could have pain in. To feel like someone is grabbing the back of your skull at your neck and literally trying to pull your skull right off of your head. I know there’s NOTHING I can say or do, to tell you how discouraging it is to have doctors tell you that they have “no idea why you’re hurting so bad,” and suggest that you should see a therapist, because obviously, if they don’t see it, it must be just psychological. And while I know your intentions are good and I know that you love me, I CANNOT think of anything to say to help you understand how fucking incredibly hurtful it is to have those that are supposed to love you the most, those shoulders that are supposed to be there for you to lean on, tell you that you’re having a pity party, or  how they “wish you wouldn’t talk about it all the time” (and sometimes it’s not said that nicely either). And for MY KIDS and HUSBAND to have to carry so much on their shoulders and to feel like they have nobody to talk to about it, because everyone’s “tired of hearing about it.” And worse, since it’s genetic, for them to see how you treat me in my pain, and fear that if they’re diagnosed, that you will treat them the same.


You don’t understand, but my brothers and sisters with Chiari do. They understand it all, because they’re living it too. I know you don’t understand the bond that we have, but even though we’ve never met face-to-face, we’ve cried so many tears, and prayed through so many surgeries together; we’ve lost friends together while doctors still try and claim that Chiari can’t kill you (even with death certificates that say Chiari in hand). We’ve lost friends that just couldn’t take the pain anymore, and we cry together because we know that those thoughts have been our own and we struggle to find a way to keep pressing on, together! I know you don’t understand the bond, but it’s real.


I’m not saying all this to make you feel bad, God forbid you feel bad, I’m saying this because I STILL NEED YOU. You weren’t put in my life by mistake and what I’m going through physically and mentally is frightening and heart-breaking and I need you here by my side. You think you don’t have time to see me through all these surgeries and diagnoses, I don’t either. There’s so much more that I wanted to do with my life and now I just want to hold my head up without pain. I NEED you to change your heart towards me and all that I’m going through. I need you to call me, and just love on me. I need you to remind me of all that I am, despite my pain – that I’m stronger than I often feel like I am. I need you to remind me that there is still value to me still being here on earth. Because in those dark moments, when I look at all I’ve lost and everything that my family has lost through this fight, I need to hear it in someone’s voice besides my own. I need you to remind me how important it is that I fight this vigilantly, so that if God forbid one of my kids have to fight this fight, I will be the best possible advocate I can be for them. They’ve missed out on so much with me being sick. And should my fight on earth come to an end, I need you to stick to them like glue, and help them know how fantastic they are and that they’re not alone. Remind them that their stronger than they think, just like their badass mom! Remind them that they have a purpose and a destiny to fulfill on earth, and to not to let anything stand in the way of that. If they get knocked down, pull them up again, every single time! Don’t worry, I’m not planning on going anywhere, this isn’t a suicide note or anything. I still have every intention of changing this fight of mine and winning it. But it’s hard sometimes and I really need you to fully understand how much I NEED YOU! Help me win this!


***Michelle originally wrote this on Facebook in 2016, with tears streaming down her face. The response from the Chiari community was astounding. What was astounding was not that so many liked it, but that so many Chiarians resonated with the heartbreak of it. It has been slightly edited for publishing. What was astounding was not that so many liked it, but that so many Chiarians resonated with the heartbreak of it. It has been slightly edited for publishing. It was written with explicit language that we at Chiari Bridges felt was a “most accurate” representation of the raw emotions that so many of us feel when we encounter these types of struggles in our family dynamics, and therefore the decision was made to publish it in its raw form.

We have published a “clean version” of this article.

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Our Vision

Published: 23 March 2018
Written by Michelle Cole
No comments
Categories: General Information

Like most of us, when my symptoms started, I felt very alone. I was blessed to have family and friends that helped me through and cheered me on, but there was a part of the fight that only those directly going through it can understand. At that time, online support groups were far from what they are now. The support groups have definitely improved, but there is still so much more that we need. We need knowledge of the studies that are already out there! We need hope for the future! We need training in self-advocacy! We need help in trying to get our bodies and minds as healthy as we possibly can, because like it or not, things can get much worse than they already are. It was from our desire to help meet those needs, that the Chiari Bridges vision began!

Empowering With Knowledge!
Chiari Bridges aims to challenge everything we have been taught about Chiari and its comorbid conditions, and write about them in a way that makes them easier to understand. Although, because we know how hard it can be to get our doctors to listen to us, we will do everything we can to supply the studies behind the facts that we write about (that is why our citations are in red, so they are not overlooked). Knowledge is power! Once we as a community have a better understanding of all that is likely to be going on in our bodies, we can arm ourselves with the studies and take them to our doctors and show them the standard of professional knowledge that we expect! The bar has to be raised, for our radiologists and doctors alike, and they are not going to raise the bar for themselves. We have to inspire them to do that and we are going to raise the roof until they do!

Raising Our Bar!
One of the biggest problems we see amongst Chiarians is that our broken bodies have degraded our spirits and our confidence. It is time for us to learn to believe in ourselves once again! The doctors that we were taught to respect, got their knowledge by studying. And many have dropped the ball in their studying, yet they continue to operate on our brains, answer our questions with wrong answers, and deny our symptoms, knowing that they are not knowledgeable at all of our condition and its comorbidities. They like to “act” like we are crazy enough to think that we could wrap our brains around medical concepts that their narcissistic disorders incline them to believe that only medical professionals could understand. Well, they truly have underestimated the reality of all that our big brains can truly accomplish! We cannot let their ineptitude become ours, because it is our brains on the line, not theirs! We plan on creating a venue to share about our doctors, the good and the bad, in a way that decreases the potential for legal liability. We have a right to share our experiences – we just need to do it in the right way.

Encouraging Hopes and Dreams!
When it comes to conditions such as ours, the first things to come under attack is our hopes and dreams for the future. Even when we start out being hopeful (often because our doctors understate the significance of what has happened to our bodies), by the time we are decompressed and we find that we are still symptomatic, those hopes and dreams quickly diminish. I have been quoted as saying, “If Chiari has stolen your dreams, dream again!” I still believe that and have been in a constant state of having to practice it. We may not be what we originally wanted to be, but if we continue to see all that we can do and not just what we cannot do, we can dare to dream again! We are all multifaceted human beings with broad gifts and talents. We might not be the athletes we once aspired to be, but that says nothing of our strength. We all have the potential to change the world around us! You might be an artist that hasn’t practiced your art in years – start practicing again! You might have always thought about writing books, but because of your diminished hope for the future, you haven’t written in years – pick up a pen and start writing again! The only way to ever know your true potential is to try and try again! Dare to dream again! 

Helping Chiarians Thrive!
While I cannot go into much detail on this topic right now, we do have plans in the works to help encourage Chiarians to gain back a sense of control and live out their passions. Some have already started, as we aim to encourage help with self-advocacy, health and fitness, political lobbying awareness, and the like. But we also plan on encouraging Chiarians to start those businesses that have been on their hearts for so long (not multi-level marketing ploys either, but authentic, heart-inspired, creative businesses), and helping get the word out that it is Chiari owned. We as a community can accomplish so much more, but we need to work together to do it, and start applauding one another instead of tearing one another down! We all need a new chapter in our lives, where we overcome and succeed in the things planted in our hearts! 

Passion and Motivation to Create Change in Our Community!
When we first embarked on building this bridge, I realized that my vision was much bigger than my ability to do it alone. Therefore, I sought out certain people within the community that were passionate about specific aspects that can help our community as a whole. Some loved the idea and still serve on the Chiari Bridges team. Some are on the team and just starting to give birth to all that is in their hearts to accomplish. (I absolutely love fresh ideas and fanning the flame until they happen!) Not everyone loved the idea though. Some saw it as a threat to their own projects. They mocked me and one called me “&*%@ing crazy” (she had no idea how right she was). Instead of taking us up on the offer, she made every attempt to try to stop us, and she and her friends have been reporting every image that we use and claiming it as their images. (Good luck with that!) If wanting to create change makes me crazy, I will gladly wear the crown! Let them talk and let’s do this anyway! While they are busy gossiping, we see an increase in Chiarians losing their battles every year. Last year, two of my good friends ended their fight. That’s two too many! We have no desire to compete with anyone or any other non-profits, especially the ones that serve to try and benefit (and not exploit) our community (that childishness has only served to hurt our community). We actually want to cheer on those organizations, individuals and groups in what they are doing and do all we can to help generate support in their efforts. There really is enough need in our community for them to do what is in their hearts to do and still be active and true to what is in our hearts to do. If you have passion and motivation, and just need an outlet or help doing it, tell us about it. It takes a village working together to bring about change!

Oh, and by the way, our vision for change is global! Our bar is not low. We aim to change the world and want to connect with those who desire the same!

Michelle Cole
President, Chiari Bridges, Inc.

 

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The Chiari Malformation Ehlers-Danlos Connection

Published: 19 January 2018
Written by Michelle Cole
1 Comment
Categories: Acquired Chiari Malformation, Comorbidities, Ehlers-Danlos Syndromes, Etiological Co-Factors, Heritable Disorders of Connective Tissue

CHIARI (KEE-AR-EE) MALFORMATIONS ARE FAR FROM RARE, THEY ARE JUST RARELY UNDERSTOOD, EVEN BY MOST MEDICAL PROFESSIONALS. A CHIARI MALFORMATION EXISTS WHEN THE LOWEST PART OF THE HIND BRAIN (THE CEREBELLAR TONSILS) PROLAPSES INTO THE HOLE AT THE BOTTOM OF THE SKULL (FORAMEN MAGNUM), ENTERS THE SPINAL CANAL AND OBSTRUCTS THE FLOW OF CEREBROSPINAL FLUID (CSF), PUTS PRESSURE ON THE BRAIN STEM AND SPINE, AND MAY RESULT IN VARYING DEGREES OF NERVE COMPRESSION.

PREVALENCE OF CHIARI: Once thought to occur in 1 in 1000 people, it is now believed to be much more frequent of an occurrence. A 2016 pediatric study found it to occur in 1 in 100 children[1]. Since Chiari Malformation Type 1, the most common type, tends to become symptomatic during late teens and early adulthood, it is likely to be much more common when adults are factored in.

THE CONNECTION: Chiari malformations were originally believed to be caused by a posterior fossa hypoplasia (small area inside the back of the skull) and doctors speculated that lack of maternal prenatal care or drug abuse caused the deformity. However, as studies continue, they are finding that many with this hind brain herniation have connective tissue disorders, such as Ehlers-Danlos Syndromes. Ehlers-Danlos Syndromes involve a mutation in one of the collagen genes. Collagen is a protein that is often described as a “cellular glue” that helps hold the body together. When that glue fails to hold, everything seems to go awry; specifically, as related to Acquired Chiari Malformations: organs tend to prolapse, and bones begin to shift as joint laxity increases (including the bones/vertebrae at the craniocervical junction). They are finding that these acquired Chiari malformations are far more common than originally thought. There are many pathological co-factors that can cause or attribute to the formation of a Chiari Malformation, and most can be linked to these Heritable Disorders of Connective Tissues (HDCTs), including a posterior fossa hypoplasia. In one large study, they found those with a Chiari malformation and no associated co-factors, with only slightly over 52% having a small Posterior Cranial Fossa (PCF). When other co-factors were present, the number of Chiarians found with a small PCF plummeted and therefore it is should be considered acquired until proven otherwise.[2]

DIAGNOSES: A decade ago, it took 10-20 years from the onset of symptoms to be diagnosed and now it takes an average of 1-2 years, because medical professionals are slowly beginning to look for it. Magnetic Resonance Imaging (MRI) remains the best tool for diagnosis. Some medical professionals believe that a tonsillar herniation of less than 5mm is simply a tonsillar ectopia and only diagnose a Chiari malformation when the descent is > 5mm. However, the 5mm requirement is controversial and many doctors now base their diagnoses not solely on measurements, but rather on symptomology and a combination of other factors (including Cine MRI, a patient’s symptoms, and other relevant factors). Due to the prevalence of connective tissue issues, gravity often proves to be a significant factor and should be taken into account by use of an upright MRI whenever possible.[3] EDS should be diagnosed by a geneticist before surgery is considered.

TREATMENT OPTIONS: There is no cure for a Chiari malformation, but there are treatment options. When symptoms are minimal and not life-altering, pain management is usually offered. However, it is important to know that while medications may ease some symptoms, Chiari symptoms tend to be progressive. Decompression surgery is the only treatment available to attempt to halt the progression of the damage being done to your Central Nervous System (CNS). The most common reason that decompression surgeries fail, is undiagnosed co-morbid conditions, especially those that can be etiological/pathological co-factors. More than one surgery might be necessary to successfully treat a Chiari malformation and any/all co-morbid conditions and there is a correlation between early surgical intervention and positive surgical outcomes[4].

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References:

1 Eltorai, Ibrahim M. “Rare Diseases and Syndromes of the Spinal Cord” Cham: Springer International Publishing: Imprint: Springer, 2016. Page 43, 15.2, <www.springer.com/us/book/9783319451466>.

2 Milhorat, Thomas H., et al. “Mechanisms of Cerebellar Tonsil Herniation in Patients with Chiari Malformations as Guide to Clinical Management.” Acta Neurochirurgica, Springer Vienna, July 2010, <www.ncbi.nlm.nih.gov/pmc/articles/PMC2887504>.

3 Henderson, Fraser C., et al. “Neurological and Spinal Manifestations of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 21 Feb. 2017, <www.onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31549/full>.

4 Siasios, John, et al. “Surgical Management of Patients with Chiari I Malformation” International Journal of Pediatrics, Article ID 640127, Hindawi, 2012, <https://www.hindawi.com/journals/ijpedi/2012/640127>.

Overview: Chiari Treatment Options & Potential Pitfalls

Published: 19 January 2018
Written by Michelle Cole
3 Comments
Categories: General Information

Once diagnosed, you will usually be referred to a specialist (not a Chiari Specialist, but an everyday, run-of-the-mill neurologist or neurosurgeon). They tend to come in one of two types: Either they are very passive and just want to wait and see how bad it gets, or they are very pro-surgery and while they will still usually give you a 50% chance of helping your symptoms, they will tell you how decompression surgery really is your best option. Both are problematic.

FOR THE ASYMPTOMATIC CHIARIAN:
Without a doubt, the passive approach is by far the best plan of action for the asymptomatic Chiari patient. Approximately 30% of those with a Chiari 1 malformation can go their entire lives without having symptoms (in fact, many remain undiagnosed and don’t even know they have it because they have no symptoms).[1] The Chiari is often discovered while looking for something else entirely and is therefore considered an “Incidental Finding.” While there is a chance that the Chiarian will become symptomatic one day, the risks of surgical complications exceed the potential benefit on something that has not and might not ever affect their life.

FOR THE SYMPTOMATIC CHIARIAN:
If the Chiarian is symptomatic, however, “Decompression Surgery is the only treatment available [at this time] to correct functional disturbances or halt the progression of damage to the central nervous system. Most individuals who have surgery see a reduction in their symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition.”[2] Despite the reasons for haste however, we do recommend slowing down and making sure that adequate testing is done to ensure that the Chiari is a “Congenital Chiari” formed only by a small posterior fossa, with no other etiological/pathological co-factors that could make it an “Acquired Chiari Malformation.” If not identified and addressed, these etiological/pathological co-factors can cause complications and even lead to a failed decompression surgery. (Note: most are told at diagnosis that it is a “congenital defect.” However, that is usually a presumption on their part, stemming from a lack of knowledge of Chiari and its comorbidities, and them giving too much credence to the paragraph or two on Chiari malformations in their medical school textbooks. That is not the reality that many are dealing with; so, testing is imperative!)

TESTING:
If you have been diagnosed with a Chiari malformation or a tonsillar ectopia (regardless of the size of tonsillar descent), you should have the following tests/images done.

1. A sleep study to check for Sleep Apnea.

• Central Sleep Apnea (CSA) is more common with Chiari, especially when there has been damage to the brainstem or Vagus Nerve.

• Obstructive Sleep Apnea (OSA) is commonly linked with obesity in the general population, it is also very common amongst those with Connective Tissue Disorders (such as Ehler’s-Danlos Syndrome).

• Both CSA and OSA can be present in the Chiarian with a Connective Tissue Disorder. When both are causing apnea, it becomes known as “Complex Sleep Apnea.”

• Sleep Apnea, regardless of the type, is a common “killer” amongst Chiarians.


2. A brain and full spine MRI (upright recommended) with and without contrast.

What they should be looking for in these MRIs:

a) Do you have a syrinx (Syringomyelia or Syringobulbia)?

• If you have either, that is proof that the blockage of CSF is significant enough to cause these potentially serious complications.

b) Is any part of your brainstem below the foramen magnum?

• If it is, you have a variant of Type 1, known as a Chiari 1.5[3] or Type 2, both indicate that there is something else going on causing the brainstem to herniate along with the cerebellar tonsils. 

c) Do you have a cyst/tumor causing increased intracranial pressure that is pushing the cerebellar tonsils down?

• If you have either, and they are operable, there is a chance that surgically removing it could decrease the intracranial pressure and allow the cerebellar tonsils (and brainstem if it is below the foramen magnum at all) to go to proper position. Furthermore, if the cyst/tumor is not addressed before, during, or soon after decompression surgery, the chances of your tonsils herniating again after decompression are high.[4]

d) Do you have Hydrocephalus causing increased intracranial pressure that is pushing the cerebellar tonsils down?

• If you do, there is a chance that the placement of a Ventriculoperitoneal Shunt could decrease the intracranial pressure enough to allow the cerebellar tonsils (and brainstem if it is below the foramen magnum at all) to go to their proper position. Furthermore, if the Hydrocephalus is not addressed before, during, or soon after decompression surgery, the chances of your tonsils herniating again after decompression are high.[5]

e) Do you have signs/symptoms of Idiopathic Intracranial Hypertension (often shows as excessive fluid above the lateral ventricles, with small, “slit-like” lateral ventricles; usually accompanied by Papilledema and/or Empty Sella Syndrome), which can cause enough cranial pressure that it can push your cerebellar tonsils down?

• If you do, there is a chance that a prescription for Diamox or Topamax, or the surgical placement of a Ventriculoperitoneal Shunt, could reduce the pressure enough to allow the cerebellar tonsils (and brainstem if it is below the foramen magnum at all) to go into proper position. Studies exist both in favor of shunting first and doing the decompression first; there are documented cases where unresolved IH has led to failed decompression surgeries, while other cases attribute a Chiari decompression as being that which resolved IH symptoms.[6/7]

f) Do you have signs/symptoms of Tethered Cord Syndrome that could be pulling on the spine from below?

• If you do, there is a chance that a less invasive surgery known as a Tethered Cord Release, could stop the downward pulling of the spinal cord and allow the cerebellar tonsils (and brainstem if it is below the foramen magnum at all) to go into proper position. Furthermore, if the Tethered Cord is not addressed before, during, or soon after decompression surgery, the chances of your tonsils herniating again after decompression are high. (Note: not all Tethered Cords are easily visible by MRI, when they are not visible, it is called Occult Tethered Cord (OTC) and surgery on a OTC remains controversial.)[8]

g) Do you have signs/symptoms of Intracranial Hypotension (CSF Leak) that could be pulling or creating a suctioning effect from below?

• If you do, there is a chance that a less invasive blood patch or a Dural Tear Repair Surgery, could stop the downward pulling/suctioning effect on the spinal cord and allow the cerebellar tonsils (and brainstem if it is below the foramen magnum at all) to go into proper position. Furthermore, if the leak(s) are not addressed before, during, or soon after decompression surgery, the chances of your tonsils herniating again after decompression are high. (Note: not all leaks are easily visible by MRI.)[9]

h) Do you have signs of Spina Bifida (Myelomeningocele, Meningocele, or Spina Bifida Occulta)?

• While it is important to know if any of these exist, a Myelomeningocele would put you at an increased risk of having a Chiari Type 2. While all Chiari Malformations with a Myelomeningocele do not meet the standards for Type 2, 90% of those with a Myelomeningocele have a Chiari Type 2. Most neurosurgeons will not perform a decompression on someone with a Myelomeningocele because of the risk of further complications.[10]

i) Do you have signs/symptoms of disc degeneration problems and/or stenosis, especially in the cervical spine where it can damage the Vagus Nerve?

• If you do, these could be another sign of a connective tissues disorder. If you have a syrinx above a herniated/bulging disc, there is a good chance that the disc is attributing to it. Herniated/bulging discs in the cervical spine can be quite troublesome. They can usually be addressed by a second procedure called an Anterior Cervical Discectomy and Fusion (ACDF), but if there are multiple cervical problems and Craniocervical Instability, some surgeons will opt to do a fusion at the time of decompression.[11]

j) Do you have signs and symptoms of a cervicomedullary syndrome[12], which are often the result of Craniocervical Instability (CCI), Atlantoaxial Instability (AAI), or both. (CCI and AAI can be confirmed with: An upright c-spine MRI with flexion, extension, and neutral views or a 3D cervical CT with rotational views.)

• CCI/AAI can produce many of the same symptoms as Chiari 1 malformation, including occipital or craniocervical junction headaches made worse by Valsalva maneuvers. It has been theorized that CCI/AAI may also be capable of causing or worsening a herniation of the cerebellar tonsils, and it has been demonstrated that CCI can cause ventral brainstem compression and deformative stress injury to the brainstem.[13] Failure to diagnose and treat CCI before or along with decompression has also been linked to decompression failure. CCI and AAI, while rare in the general population, are relatively common in patients with HDCT’s (Heritable Disorders of Connective Tissue), such as Ehlers-Danlos Syndrome. CCI, when identified to be the root cause of significant symptoms, can be treated conservatively, and in the short term, with the use of a hard-cervical collar, physical therapy and, possibly, traction. More permanent treatment in the form of a fusion and stabilization surgery (fusing the occiput to C1, C2, and sometimes additional vertebrae).[12/13]

3. A preliminary check for connective tissue disorder (especially Ehler’s-Danlos Syndrome). If preliminary results indicate the presence of a connective tissue disorder, genetic testing should be done to rule out more serious types.


IF NONE OF THESE PROBLEMS APPEAR TO EXIST: 
Some doctors and patients prefer to wait and just treat the symptoms medically. That is your choice to make and you should never let anyone try to bully you or manipulate you into having surgery or not; although it is important to know that statistics show that those who have had a shorter duration of onset of symptoms and surgery tend to have a better surgical outcome.[14]

Statistics show that 80% of decompressed patients report some relief from some of their symptoms; headaches are the most commonly reported symptom to gain relief (81%).

Most surgeons will give a 50% chance of relieving each symptom individually, with the exception of pain associated with damaged nerves.

While some surgeons prefer a conservative approach to surgery such as a “bone only” decompression or a “Minimally Invasive Subpial Tonsillectomy,”[15] a full decompression usually consists of:

♦ Craniectomy: removal of part of the sub-occipital skull.

♦ Laminectomy of C1 (and sometimes C2): removal of the lamina from the vertebra.

♦ Duraplasty: opening of the dura (the outermost membrane enveloping the brain and spinal cord) and patching it so there is more room.

♦ Cerebellar Tonsillectomy: removal/cauterization of the cerebellar tonsils.


IS DECOMPRESSION SURGERY A CURE FOR A CHIARI MALFORMATION? 
There is a fundamental problem with the question and what many neurologists and neurosurgeons believe about decompression surgery. For the patient, the symptoms are synonymous with the condition. If we continue to struggle living our lives because of these symptoms, having a doctor that refuses to validate that struggle, can add insult to injury. Decompression surgery should NEVER be considered a cure to the symptoms of a Chiari malformation, it is merely the only treatment available [at this time] to correct functional disturbances or halt the progression of damage to the central nervous system. The likelihood of continued symptoms is almost absolute, Decompression is only a means of reestablishing the flow of CSF between the brain and spinal canal (which is imperative). Once flow is restored, there should be some relief from many of the symptoms. Complications such as Syringomyelia should be reduced or resolved, so the possibility of paralysis is significantly reduced. With as bad as the pain and symptoms are, it really can get worse if left untreated. Finding a specialist that is not only experienced with decompression surgeries, but who fully understands the correlation and treatment of etiological/pathological co-factors and co-morbid conditions, substantially increases the likelihood of a positive surgical outcome.

 

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References:

1 Elster, A D, and M Y Chen. “Chiari I Malformations: Clinical and Radiologic Reappraisal.”Radiology., U.S. National Library of Medicine, May 1992, <www.ncbi.nlm.nih.gov/pubmed/1561334>.

2 “Chiari Malformation Fact Sheet.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, June 2017, <www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Chiari-Malformation-Fact-Sheet>.

3 Kim, In-Kyeong, et al. “Chiari 1.5 Malformation : An Advanced Form of Chiari I Malformation.”Journal of Korean Neurosurgical Society, The Korean Neurosurgical Society, Oct. 2010, <www.ncbi.nlm.nih.gov/pmc/articles/PMC2982921/>.

4 Wang, J, et al. “Acquired Chiari Malformation and Syringomyelia Secondary to Space-Occupying Lesions: A Systematic Review.” World Neurosurgery., U.S. National Library of Medicine, Feb. 2017, <www.ncbi.nlm.nih.gov/pubmed/27894943>.

5 Graham, A, et al. “An Unusual Cause of Neck Pain: Acquired Chiari Malformation Leading to Brainstem Herniation and Death.” The Journal of Emergency Medicine., U.S. National Library of Medicine, Dec. 2012, <www.ncbi.nlm.nih.gov/pubmed/21215551>.

6 Fagan, L H, et al. “The Chiari Pseudotumor Cerebri Syndrome: Symptom Recurrence after Decompressive Surgery for Chiari Malformation Type I.” Pediatric Neurosurgery., U.S. National Library of Medicine, 2006, <www.ncbi.nlm.nih.gov/pubmed/16357496>.

7 Park, Michael S., et al. “Coexistent Chiari Malformation and Idiopathic Intracranial Hypertension: Which Should Be Treated First?- Case Report and Review.” JSM Neurosurg Spine, vol. 2, no. 3, ser. 1025, 20 Mar. 2014. 1025, <www.jscimedcentral.com/Neurosurgery/neurosurgery-2-1025.pdf>.

8 Milhorat, T H, et al. “Association of Chiari Malformation Type I and Tethered Cord Syndrome: Preliminary Results of Sectioning Filum Terminale.” Surgical Neurology., U.S. National Library of Medicine, July 2009, <www.ncbi.nlm.nih.gov/pubmed/19559924>.

9 Atkinson, J L, et al. “Acquired Chiari I Malformation Secondary to Spontaneous Spinal Cerebrospinal Fluid Leakage and Chronic Intracranial Hypotension Syndrome in Seven Cases.” Journal of Neurosurgery., U.S. National Library of Medicine, Feb. 1998, <www.ncbi.nlm.nih.gov/pubmed/9452230>.

10 Vandertop, William P., et al. Surgical Decompression for Symptomatic Chiari II Malformation in Neonates with Myelomeningocele. Oct. 1992, <www.thejns.org/doi/abs/10.3171/jns.1992.77.4.0541>.

11 Dahdaleh, Nader S., and Arnold H. Menezes. Incomplete Lateral Medullary Syndrome in a Patient with Chiari Malformation Type I Presenting with Combined Trigeminal and Vagal Nerve Dysfunction. 2008, <www.thejns.org/doi/pdf/10.3171/PED.2008.2.10.250>.

12 Henderson, Fraser C., et al. “Neurological and Spinal Manifestations of the Ehlers–Danlos Syndromes.” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 21 Feb. 2017, <www.onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31549/full>.

13 Henderson, FC, et al. “Deformative Stress Associated with an Abnormal Clivo-Axial Angle: A Finite Element Analysis.” Surgical Neurology International, 16 July 2010, <www.europepmc.org/articles/PMC2940090/>.

14 Ma, J, et al. “Cerebellar Tonsillectomy with Suboccipital Decompression and Duraplasty by Small Incision for Chiari I Malformation (with Syringomyelia): Long Term Follow-up of 76 Surgically Treated Cases.” Turkish Neurosurgery., U.S. National Library of Medicine, 2012, <www.ncbi.nlm.nih.gov/pubmed/22664992>.

15 Beecher, Jeffrey S., et al. “Minimally Invasive Subpial Tonsillectomy for Chiari I Decompression.” Acta Neurochirurgica, Springer Vienna, 5 July 2016, <www.ncbi.nlm.nih.gov/pmc/articles/PMC4980444/>.

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