More from the ASAP 2008 Meeting

Sat, 26 Jul 2008 08:31:19 -0400

Thursday’s session of the 20th Annual Medical Conference was launched by Richard ‘Dick’ Hellner, ASAP’s new CEO, and Arnie Hulteen, the new Chief Development Officer. Both bring new energy to ASAP as it continues to grow and serve persons with Chiari and syringomyelia.

The agenda included a number of scientific talks by leading specialists in the management of Chiari, syringomyelia, and the tethered cord. Below are three of their presentations.

Association of Chiari and Tethered Cord Syndrome: Preliminary Results of Sectioning the Filum Terminale

Paolo Bolognese, MD
Associate Director of the Chiari Institute (TCI)
Great Neck, New York

Dr. Bolognese presented the preliminary results of the clinical study he and his colleagues are preforming on the relationship between CM/SM and the tethered spinal cord (TC). He was clear to point that TC was not the cause of CM in most patients. As he noted we are “dealing with a very narrow subset” of patients.

Dr. Misao Mishikawa at TCI, described as “the leading world expert in morphometrics” of the nervous system, performed a thorough morphometric analysis on the MRI scans of patients with CM/SM.

Dr. Bolognese and his team found elongation of the brainstem to be a sign of possible TC. Interestingly, the posterior fossa volume was normal and the foramen magnum was found to be larger than normal in patients suspected to have TC. This differs from the small posterior fossa and small foramen magnum found in many CM-I patients. In most cases the filum terminale was not thicker than normal.

Following a lumbar laminectomy, spinal fluid flow was measured using ultrasonography before and after filum section. Flow was very low prior to dural opening and significantly increased following filum section. (It is not clear to me why this would occur.)

Surgical complications were few. Preliminary results showed the improvement following section of the filum terminale was greater in children than in adults. Just over 90% of children and over 80% of adults improved. If these numbers hold in future studies, this study will mark a new understanding and treatment option for a small subset of patients with Chiari I malformation or syringomyelia.

Morphometric studies following surgery also showed significant improvement. Syrinx size decreased in 87% of children and scoliosis improved in two-thirds. The conus medullaris moved up 5 mm, the brainstem shortened by 3.9 mm, and the tonsils moved up 3.8 mm.

Again, it is important to note that these are preliminary results. The publication of this clinical study is eagerly awaited. At this time it appears that TC may be a cause or a cofactor in subset of CM/SM patients.

Techniques and Problems of Craniovertebral Fusion for Craniocervical Instability and Hindbrain Herniation

Arnold Menezes, MD
Professor and Vice Chairman, Department of Neurosurgery
University of Iowa, Iowa City, IA

Dr. Menezes, the worlds leading authority on disorders of the skull base, discussed whether fusion is needed in persons with CM-I and complex skull-base anomalies. He believes only a “very small percentage” require an occipital-cervical fusion.

He reported on patients treated for CM-I and skull-base anomalies in the past 10 years. Ages range from 2.5 to 86 years with one-third being less than 16 years-of-age.

Flexion/extension cervical MRI (introduced by Dr. Menezes), or cervical traction in persons with vertical settling, were performed to determine if the deformity was reducible. The skull base deformity was reducible in 25%.

Previous posterior fossa decompression had been performed on 44% of the patients. Occipital-cervical instability due to musculo-ligamentous instability (from disorders such as Ehlers-Danlos, Down’s or other syndromes) was present in 15%.

From his large experience, Dr. Menezes recommends the following. If the deformity reduces on flexion/extension MRI, fusion is done posteriorly. If the deformity does not improve with positioning or traction, transoral resection of the odontoid is followed the next day by posterior occipital-cervical fusion.

With regard to the surgical decompression, he always opens the dura in persons with syringomyelia (a position I agree with). He notes that fusion involve as few cervical levels as possible, although longer fusion may be needed in patients with EDS. He avoids instrumentation in children less than 8 years of age in order to allow the bone in the area to grow normally.

Investigation on the Pathogenesis of Post-traumatic Syringomyelia

Professor and Chairman, Department of Neurosurgery
University of Louisville Health Sciences Center
Christopher Shields, MD

Dr. Shields reported study on the mechanism of syrinx formation following spinal cord injury. He started his presentation by listing the causes of syringomyelia including the Chiari I malformation, spinal cord or spinal canal tumors, meningitis, and degenerative conditions of the spine including scoliosis and disc herniation.

The incidence of post-traumatic (following a spinal cord injury) syringomyelia is low (0.3-3.2%). However, since many persons sustain a spinal cord injury annually, the problem is not rare. In his patients, symptoms of syringomyelia developed as soon as 2 months to as long as 36 years following spinal cord injury; the average is 4-6 years.

The authors injected a substance into central canal (CC) of the spinal cord in rats to determine if blocking of the CC results in syrinx formation. Creation of a single block in the CC did not cause syringomyelia. However, two or more blocks in the CC resulted in the development of a syrinx like cavity in the spinal cord in the area between the blocks.

In a second portion of the study, the investigators placed the same substance in subarachnoid space around the spinal cord. This resulted in an area of arachnoiditis (scarring of the arachnoid membrane) that blocked spinal fluid flow around the cord. These animals did not develop syringomyelia.

The findings suggest that the central canal may serve as a conduit to compensate for the increase in hydrostatic pressure within the spinal cord. Blockage of the central canal from spinal cord injury appears to be an important factor in the development of post-traumatic syringomyelia syrinx.
..................................................................................................................................
By way of disclosure, I have been a member for 7 years and currently serve on the Medical Advisory Board.

John Oró, MD

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
in the Organizations section.

ASAP 2008 Annual Meeting

Thu, 24 Jul 2008 14:00:13 -0400

I am currently in Arlington, Virginia at the 20th Annual Medical Conference of the American Syringomyelia Alliance Project. ASAP, established in 1988 by Don and Barbara White, has provided support to thousands of people with the Chiari malformations and/or syringomyelia.

The meeting is hosted by Dr. John Heiss, Head of the Surgical Neurology Branch at NINDS, NIH, Bethesda, Maryland. Among today’s presentations:

Chiari & Syringomyelia: Introduction and History of Treatment Methods

W. Jerry Oakes, MD
Professor of Pediatric Neurosurgery
University of Alabama at Birmingham Medical School

Dr. Oakes introduced the Chiari malformation and syringomyelia. He focused on the need to avoid treatment based solely on the findings seen on MRI. The important, and sometimes difficult part, is to determine whether the patients symptoms are due to cerebellar tonsil herniation sometimes found on MRI. Treat based on symptoms, not just on radiology.

Two out of three of the children Dr. Oakes treats for the Chiari malformation also have a syringomyelia. The syrinx is an “objective” finding, versus headache which is difficult to measure and is viewed as a “subjective” finding.

About 15% of the children had other, frequently unique, presentations. One example was a child who would not cry. The reason: if the child cried, the head and neck would arch back due to marked pain from a tight Chiari I malformation. Thus, the child learned not to cry. Another child with CM-I child would not have bowel movements since straining caused severe pain.

Dr. Oakes reported that 8-10% of children with CM-I also had hydrocephalus.

He then discussed the outcome following posterior fossa decompression. In children with syringomyelia, the syrinx resolved or improved in 96% within 8 months following surgery. This decreased to 84% at 7 years.

He does not believe the tethered cord causes syringomyelia and would not treat syringomyelia by section of the filum terminale. (More on this controversial issue in future posts. Also, look at Chiari related to tight filum terminale?)

Finally, it was Dr. Iskandar, Dr. Oakes, and colleagues who in 1998 defined Chiari 0. They reported 5 children with syringomyelia but without the classically described CM-I who were nevertheless treated with a posterior fossa decompression. All five children improved.

Dr. Oakes sticks to his definition of the Chiari O malformation: minimal tonsillar descent in a person with syringomyelia. (See Defining Chiari)

Pain Management in Patients with Chiari I and Syringomyelia

Dr. Ann M. Berger, MSN, MD
Head of the Pain Service
NIH Clinical Center, Bethesda, MD

Dr. Berger started with a description of the three types of pain. Somatic pain - pain from the extremities, trunk, and head - is due to activation of nociceptors (pain receptors). These receptors are activated by a stimulus such as inflammation or injury. Visceral pain, often vague and diffuse, is also due to activation of nociceptors. However, neuropathic pain is different. It is due to damage or destruction of the nerve fibers themselves and is usually more difficult to treat.

The pain team at the NIH Clinical Center manages pain using a broad multidisciplinary approach which includes pharmacological treatment, mind-body therapies, and a focus on psychosocial issues and the whole family unit.

Pharmacological treatment depends on the severity of pain. Mild pain, not frequently seen at the Center, is treated with aspirin, tylenol, ibuprofen, naproxen, or similar over-the-counter medications. Moderate pain is treated with opioid (narcotic) medications. Severe pain is treated with long-acting opioids together with short acting opioids for breakthrough pain.

(Dr. Berger reminds us not to forget treatment of constipation in patients on opioid medications.)

She then discussed tolerance, physical dependence, addiction, and pseudo-addiction. Tolerance is the physiological adaptation to opioids that results in a need to increase the dose in order to achieve the same effect over time. Physical dependence describes the changes in the nervous system that occur after prolonged opioid treatment. Sudden withdrawal call lead to withdrawal symptoms.

Dr. Berger notes that addiction, a psychological preoccupation with acquisition of pain medications, occurs in fewer than 0.1% of those on acute/chronic pain medications. She believes more often persons may show a pseudo-addiction: they appear to have addictive behavior but, in reality, are not be getting enough medication to treat their pain. (If anyone has any thoughts or experience on distinguishing these two groups, please add a comment).

Dr. Berger then spoke on the management of neuropathic pain, the type of pain most often suffered by those with syringomyelia. In addition to using analgesics, it is important to use adjuvant medications such as tricyclic antidepressants and selected anticonvulsants. A few patients with more refractory pain may benefit from Clonidine, corticosteroids, local anesthetics such as Mexilitine, or medications such as Ketamine or Baclofen.

In addition to pharmacological treatment, the NIH Pain Service focuses on the social, emotional, spiritual and psychological issues involved in pain. Their multidisciplinary team utilizes a broad range of mind-body therapies including:

Massage - particularly good for myofascial pain
Electro therapeutic point stimulators and TENS
Relaxation - meditation, guided imagery, breathing and others
Biofeedback - may be better for computer oriented people
Hypnosis - a specialized practitioner can train the patient in self-hypnosis
Yoga - effective for mind body and spirit
Acupuncture - “very helpful”
Reiki - “universal energy healing system” for its calming effect
Finger Labyrinth - finger traces path; calming effect
Mandala
Pet Therapy
Art Therapy
Music Therapy

Dr. Berger and her colleagues try to select the right mind-body therapy for each patient. Sometimes trying a series of therapies in order to find the most effective.

A final, and important point, is their emphasis on looking at the whole family unit. They try to identify factors that could aggravate or maintain the pain and also resources that could be called upon to help alleviate pain and improve the quality of life.

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
in the Organizations section.

Arachnoid Cysts & Chiari

Tue, 1 Jul 2008 21:08:44 -0400

The arachnoid is a thin transparent web-like membrane just inside the dura matter (the tough outer membrane around the brain and spinal cord). The spinal fluid compartment, known as the subarachnoid space, is just inside the arachnoid.

The arachnoid membrane is made of two layers that are normally stuck together. During development, a split can occur in the arachnoid and a blind pouch can develop between the two layers. Called an arachnoid cyst (AC), this pouch can stay unchanged or slowly grow in size.

Arachnoid cysts can develop in any area part of the subarachnoid space including in the posterior fossa (the back compartment of the skull). A common site for posterior fossa ACs is behind the cerebellum (retrocerebellar).

Posterior fossa ACs can cause pressure on the cerebellum and brain stem. If they are large enough, they can also cause the cerebellar tonsils to herniated through the foramen magnum. When this occurs, the resulting symptoms are the same as with the Chiari I malformation and can include headache, dizziness, vertigo, visual disturbances, and poor coordination among other symptoms.

Diagnosis
On MRI, the diagnostic test of choice, ACs have sharply defined borders and fluid identical to CSF (see the retrocerebellar cyst in the image above). Intravenous (IV) contrast is administered to make sure that the cyst is not due to a tumor. Arachnoid cysts are benign and do not enhance (brighten) with IV contrast.

Syringomyelia
Just as in the Chiari I malformation, obstruction of spinal fluid flow at the at the foramen magnum can result in the development of a spinal cord syrinx. In 2005, my colleagues and I reported a case of a 38-year-old woman with achondroplasia (a disorder of bone growth) who developed neurological symptoms from a retrocerebellar arachnoid cyst (image above). The cyst cause a ‘secondary’ Chiari malformation (the Chiari type herniation is secondary to the cyst) and syringomyelia.

Her symptoms and the syrinx resolved following surgery which included removing of portions of the cyst wall (fenestration) and decompression of the foramen magnum.

In the article (full-text available online), we also reviewed the previous literature on arachnoid cysts associated with syringomyelia.

Treatment
Arachnoid cysts that cause intractable symptoms are treated with surgery. Surgery may be by a craniotomy approach as preformed in the case discussed above, or in some cases by an endoscopic approach. Some arachnoid cysts are treated with a shunt, although this may not be as successful.

Following surgery, the size of the empty-looking area on the MRI may not change much since the cyst has been there for many years and the affected brain tissue may be underdeveloped.

The goal of surgery in cases with herniation of the tonsils is to remove the obstruction at the foramen magnum, improve spinal fluid flow, and relieve compression of the neurological tissues. The outcome following surgery for arachnoid cysts is generally good.

John Oro’, MD

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Reference
Bauer AM, Mueller DM, Oro JJ. Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report. Neurosurg Focus. 2005 Nov 15;19(5):E14. Review.

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
in the Organizations section.

Copyright © 2007-2008 CyberMed, LLC

Summer Break

Sun, 15 Jun 2008 20:16:42 -0400

Chiari Times is taking a summer break. Will be back online July 1.

CM-I, Syringomyelia & Scoliosis

Sun, 8 Jun 2008 22:48:15 -0400

Does scoliosis in children improve following surgery for CM-I and syringomyelia? Attenello and colleagues recently published their results in a study of 21 children.

The authors reviewed the Johns Hopkins Hospital records from 1995-2005 of children undergoing first-time posterior fossa decompression for CM-I. Of the 258 children identified, 33 children (13%) had CM-I and scoliosis. Children undergoing posterior fossa decompression and concurrent spinal fusion were excluded. Twenty-one children treated by posterior fossa decompression for CM-I were available for review.

Mean age of the children was 9 years (range 6-12 y). Indications for surgery were 5 of more mm of tonsillar herniation (a conservative measure, see abstract on Chiari 0), and either Chiari symptoms or syringomyelia with scoliosis greater than 10 degrees. Posterior fossa craniectomy and C1 laminectomy was performed in all 21 children.

The majority also underwent duraplasty. Duraplasty was not performed in patients with minimal tonsillar ectopia and evidence of physiological hindbrain cerebrospinal fluid flow and tonsillar pulsations on intraoperative ultrasonography after decompression.

Results
The scoliosis curve improved after surgery in 38% of the children and progressed in 48%. The remaining showed no change. Scoliosis was more likely to progress in children with thoracolumbar scoliosis that in those with just thoracic or lumbar scoliosis. It was also more likely to progress if the syrinx did not decrease in size after surgery.

In the only child in this group that did not have a duraplasty, the syrinx did not decrease and the scoliosis progressed.

Conclusions
The good news is that 1/3 of children with CM-I, syringomyelia, and scoliosis will improve their scoliosis curve following posterior fossa decompression. Another 14% will stabilize.

The authors also conclude:

Patients presenting with more severe scoliosis (increasing Cobb angle), lack of syrinx improvement during follow-up, or scoliosis crossing the thoracolumbar junction may benefit from earlier orthopedic involvement and should be monitored regularly for curve progression after cervicomedullary decompression.

John Oro’, MD

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
in the Organizations section.

Copyright © 2007-2008 CyberMed, LLC

Spring References

Sun, 1 Jun 2008 22:17:10 -0400

Aufschnaiter K, Fellner F, Wurm G.
Surgery in adult onset tethered cord syndrome (ATCS): review of literature on occasion of an exceptional case.
Neurosurg Rev. 2008 May 28.

Zhang ZQ, Chen YQ, Chen YA, Wu X, Wang YB, Li XG.
Chiari I malformation associated with syringomyelia: a retrospective study of 316 surgically treated patients.
Spinal Cord. 2008 May;46(5):358-63.

Retrospective review of the change in syrinx size following surgical treatment. My impression is that syrinx size responds better to posterior fossa decompression than reported in this study.

Caird J, Flynn P, McConnell RS.
Significant clinical and radiological resolution of a spinal cord syrinx following the release of a tethered cord in a patient with an anatomically normal conus medullaris.
J Neurosurg Pediatrics. 2008 May;1(5):396-8.

Important case study of a 7-year-old boy with syringomyelia and a normal positioned filum terminale. Surgical section of the filum resulted in both clinical and radiological improvement. To learn more visit Chiari Related to Tight Filum Terminale?

Laufer I, Engel M, Feldstein N, Souweidane MM.
Chiari malformation presenting as a focal motor deficit.
J Neurosurg Pediatrics. 2008 May;1(5):392-5.

Williams H.
A unifying hypothesis of hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida.
Cerebrospinal Fluid Res. 2008 Apr 11;5(1):7.

Cakmak SK, Gönül M, Kiliç A, Gül U, Koçak O, Demiriz M.
A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck.
Int J Dermatol. 2008 Apr;47(4):377-9.

Cabraja M, Thomale UW, Vajkoczy P.
[Spinal disorders and associated CNS anomalies - tethered cord and Arnold-Chiari malformation.]
Orthopade. 2008 Apr;37(4):347-55. German.

Akiyama Y, Koyanagi I, Yoshifuji K, Murakami T, Baba T, Minamida Y, Nonaka T, Houkin K.
Interstitial spinal cord edema in syringomyelia associated with Chiari type I malformation.
J Neurol Neurosurg Psychiatry. 2008 Apr 10.

MRI study showing interstitial spinal cord edema is common in patients with syringomyelia. Conclusion: “Accumulation of the extracellular fluid due to disturbed absorption mechanisms may play an important role in the pathophysiology of syringomyelia associated with Chiari type 1 malformation.”

Tubbs RS, Shoja MM, Ardalan MR, Shokouhi G, Loukas M.
Hindbrain herniation: A review of embryological theories.
Ital J Anat Embryol. 2008 Jan-Mar;113(1):37-46.

For an index of ChiariTimes posts, visit the new Topics section.

Beyond Chiari

Mon, 26 May 2008 23:02:46 -0400

Chiari Times is dedicated to increasing awareness and understanding of the Chiari malformations, syringomyelia, and associated disorders. The goal is to help the medical community better recognize and provide care to persons affected and to those that still struggle despite treatment.

On occasion, Chiari Times will feature the stories of persons who have, for the most part, moved beyond Chiari. Their stories can inspire us to push even harder to find answers for all suffering from these conditions.

Living with Chiari
As I write about my experiences living with Chiari Malformation, I am at point in my life where I am happy and stable. I have a fulfilling and interesting career, a wonderful spouse, and my husband and I are expecting our first child. I am very grateful for this time, and I am excited about the future. Yet, I am also aware that the past 10 years have not always been easy; there were months, if not years, that were filled with immense frustration, sadness, anger, and self-doubt. These were the years when I suffered from horrible Chiari symptoms, but did not know that I had the condition, as well as the years following my decompression surgery when my recovery was not happening as quickly as I had anticipated and I was learning to adjust to the limitations and abilities of my new body. I have experienced both good times and deeply dark times living with this condition. What is important, however, is that I understand that these experiences are all part of life. My condition is not unique; it does not make me different from other people. If anything, it allows me to better understand humanity and to connect with others, which has enabled me to feel more comfortable with and fulfilled by my journey through life.

The Pre-Diagnosis Years
I first started feeling unwell when I was in high school. I often suffered from fatigue and headaches following a long day at school carrying heavy books on my back. The headaches always resolved with a good night’s sleep, so I never sought treatment for them. Moreover, other members of my family had headaches, so I thought that mine were normal. My headaches and intermittent fatigue persisted when I went to college and remained relatively stable. After college, I took some time off to obtain additional research experience before starting graduate school. During this time of transition, I started to feel worse. I took frequent naps, I suffered from daily panic attacks, and I did not feel “right” overall. My head was stuffed up; I was dizzy and slightly off balance. These symptoms were exacerbated by bright lights and large venues. My headaches also persisted. My primary care doctor thought I had allergies and prescribed allergy medications, which did not help. When I started graduate school a year later, I was thrilled. I was finally starting the path to my dream career, and I had a four-year fellowship. My life was set, but unfortunately I continued to be plagued with these nebulous and strange symptoms.

Half way through my first year of graduate school, my symptoms worsened considerably within a one to two-week period, and I started to develop new ones. My balance worsened; I started having muscle stiffness, spasms, and pain in my neck and upper back. The pressure in my head worsened; it felt like someone had attached a water hose to the bottom of my spine and turned on the water full blast. I occasionally had a bizarre sensation that my head was on a pogo stick. I had a hard time scanning and crossing busy streets. I felt miserable. I went to see an allergist who diagnosed me with food allergies and hay fever and put me on a special diet and allergy shots. After receiving the shots for a few weeks, I complained to the nurse that my fatigue and other symptoms had not improved at all. She insisted that I get tested for mononucleosis. Lo and behold, that is what I had. I quickly went to bed for a few weeks, and my bone tired fatigue gradually improved. However, it never entirely disappeared and my other symptoms persisted. For the next two years, I frequently presented to my primary care doctor with my symptoms, and she attributed them to a protracted mononucleosis infection or, possibly, chronic fatigue syndrome. My frustration mounted as my health continued to worsen and no one was able to give me any answers. Luckily, during this time I was planning my wedding and working on my master’s thesis, so I was distracted enough that my mood was stable even though physically I was miserable. After my wedding, I began to fall apart emotionally. Although my husband was very loving and supportive, I was terribly afraid that I would be a bad wife and would not be able to handle a career, marriage, and family. I was full of self-doubt and was seriously contemplating quitting graduate school. During this time, my symptoms continued to worsen, and I developed new ones. I started to get tingling and burning sensations in my arms and legs; I couldn’t run without feeling my body stiffening up and my head pounding. I went to bed every night extremely early and had no life. My husband started to do more things without me and escaped into his hobbies. Intimacy between the two of us was non-existent. It was a horrible way to start a marriage, and I felt incredibly guilty and sad.

Finally, A Diagnosis
On 4th of July weekend, my husband was out-of-town visiting friends and family three hours away. As usual, I decided not to go with him because I was not feeling well. When I was all alone this particular weekend, I decided that I could not take my symptoms any longer and went to the Emergency Room to get some answers. The E.R. doctor did a quick neurological examination and found nothing remarkable. However, given my complaints, he suggested that I set up an appointment with a neurologist. I was a little shocked by his recommendation and hesitated to make the appointment. Eventually, a couple of months later, I finally saw a neurologist who, after another neurological exam, was “99.999%” sure that there was nothing neurologically wrong with me (although I could tell that he was thinking that my symptoms were all stress-related). He ordered an MRI just to be safe. A week later, he called me with the diagnosis, “You have an Arnold-Chiari Malformation, Type 1. I do not know much about it, but there is a neurosurgeon in town who does.” I vaguely remember hearing about this condition on a news program a year previously. I was both relieved and shocked. I was relieved because I finally knew what was causing my misery; I was shocked because the condition sounded so bizarre and foreign to me. Regardless, at the time I was so physically, emotionally, and mentally exhausted that I looked at surgery as a chance for a better life.

Surgery, Recovery, and Beyond
I had surgery approximately four months after my diagnosis. I waited because I needed to arrange time off with my job and my graduate program as well as finish data collection for my master’s thesis. I had an excellent surgeon, so my surgery was very smooth and uneventful. However, unlike some of other stories that I had read on the support group websites, I did not wake up with all of my symptoms gone and a spring in my step. I could tell that the surgery had changed me fundamentally; the pressure was gone and my symptoms were greatly reduced. Yet, I knew that I had a long recovery ahead of me and would probably never be the way that I was before I got sick.

It took me about one to two years to really feel comfortable and accepting of my new body. My symptoms decreased to the point where, at times, they were completely non-existent. However, as the stressed of life increased, so did my symptoms, so I learned when to take it easy. In a sense, my body became a “stress barometer”, which many might view as a blessing rather than a curse considering that most healthy people do not know that they are stressed until it is too late. I began to regain my strength and well-being through regular low-impact exercise, a healthy diet, and relaxation/meditation. For the next few years, I was able to continue with my schooling and earn my doctorate. I interned at a top-notch institution, and I am currently finishing a post-doctoral fellowship. My husband and I have traveled both internationally and domestically within the last few years, and we are now getting ready to welcome our first child this fall. Living with this condition has increased my compassion for other individuals who have chronic health conditions, but I also try each day to not let my condition define me. Yes, it is apart of me, but it is not my life, it is not my soul, it is not me.

Name held on request.

Diane Mueller to serve as Beyond Chiari Editor

I am pleased to announce that Diane Mueller, ND, NP will serve as the editor for the Beyond Chiari section. If you are at least one year beyond your surgery and have been able to put Chiari in a corner, or out the window for that matter, please send your story to Diane.

Please DO NOT include names of your doctors or the institution you were cared for. This is about you and how you have been able to move forward with your life.

Send your story to MuellerDM@health.missouri.edu

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
in the Organizations section.

Copyright © 2007-2008 CyberMed, LLC

Paroxysms

Mon, 19 May 2008 00:27:21 -0400

A medical paroxysms is defined in my Mac dictionary as “a sudden recurrence or attack of a disease; a sudden worsening of symptoms.”

In previous blogs we have looked at paroxysms occurring in persons with the Chiari I malformation including syncope, cerebellar fits, and paroxysmal rage. We have also considered spells that seem similar, but have usually not been associated with CM-I: breath-holding spells, and neurally mediate syncope. In this post, we will summarize and draw some conclusions.

Spells Reported in the Chiari I Malformation:

Chiari Syncope
Population: adults
Onset: sudden loss of consciousness
EEG: normal
Trigger: coughing, sneezing, head turning, head extension, or no trigger
Proposed mechanism: dysfunction of autonomic control of heart
Treatment: most resolve following posterior fossa decompression

Cerebellar Fits
Population: children
Onset: sudden drop attacks with or without loss of consciousness; tonic posturing or opisthotonos; varying degrees of respiratory compromise including apnea
EEG: normal (1 case with concurrent partial complex seizures)
Trigger: none reported
Proposed mechanism: brainstem dysfunction
Treatment: resolution with posterior fossa decompression

Paroxysmal Rage
Population: two children described (2.5 & 8 year old)
Onset: sudden attacks of rage lasting seconds, minutes, or hours
EEG: normal
Trigger: none
Proposed mechanisms:
- irritation of meninges at foramen magnum
- distress caused by HA leads to raised ICP further increasing HA
Treatment: both cases resolved with posterior fossa decompression

Spells of Uncertain Relationship to the Chiari I Malformation:
Breath-Holding Spells (BHS)
Population: children
Onset cyanotic type: cry, hyperventilate then noiseless expiration; skin becomes red or blue-purple; apnea and loss of consciousness for 1-2 minutes
Trigger cyanotic type: anger, frustration or a painful injury
Onset pallid type (AKA: reflex anoxic seizure) a single cry or none at all; becomes pale and looses consciousness; may have brief muscle twitching, body stiffening or opisthotonos before loss of consciousness
Trigger pallid type: painful event such as blow to head
EEG: normal
Proposed mechanisms:
- centrally mediated cardiac inhibition through vagus nerve
- central inhibition of respiratory movements through vagus nerve
- autonomic dysregulation
- reduced sensitivity to hypoxia and hypercapnia
- upper-airway narrowing
- sleep disordered breathing
Treatments reported:
- reassurance
- iron supplements in cases with iron deficiency anemia
- adenoidectomy and tonsillectomy if upper airway narrow
- atropine
- pacemaker

Neurally Mediated Syncope (NMS)
AKA: neurocardiogenic syncope and vasovagal syncope
Population: any age, most frequent in adolescence
Onset: nausea, lightheadedness, a feeling of warmth, and pallor before abruptly losing consciousness
EEG: ?
Trigger: orthostatic stress (assuming the upright position), coughing, emotional stress, physical stress
Proposed mechanism: dysfunction of the human body’s regulation of blood pressure
Treatments Reported:
- prevention by increased fluid and salt intake, avoidance of extreme heat, alcohol consumption, and prolonged standing
- beta blockers or pacemaker in repeated spells

Conclusions
Other than paroxysmal rage and occasionally in cerebellar fits, these disorders have brief loss of consciousness in common. All, except for Chiari apnea, occur more commonly, if not exclusively, in children. EEG is normal with the rare exception of those with a co-existing seizure disorder.

Chiari syncope is usually triggered by valsalva maneuvers or head-turning, clearly implicating brainstem compression as the primary etiology. However, neurally mediated syncope can also occur with coughing. Emotional stress or a blow to the head, frequent triggers of BHS or NMS, have not been implicated in Chiari syncope.

While abnormal motor responses such as stiffening or opisthotonus are part of cerebellar fits, breath-holding spells and neurally mediated syncope can occasionally show some of the same features.

Abnormal autonomic control of heart or respiration appears to be the common pathology in these spells. In BHS and NMS, dysfunction is more likely due to intrinsic abnormalities in the brainstem neural circuits, while in CM-I, the neural circuits are likely abnormal because of brainstem compression.

While orthostatic syncope is usually considered the result of intrinsically abnormal autonomic response, autonomic dysfunction when standing could also be due to increased tonsillar herniation in the upright posture as documented in at least one patient with CM-I.

It is reasonable to assume that these conditions overlap to some degree - such as in overlapping circles drawn on a piece of paper. The question of course, is how much? Just a little, or more than we think. Brain MRI scans in children with recurrent breath-holding spells or neurally mediated syncope should provide the answer.

John Oro’, MD

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Copyright © 2007-2008 CyberMed, LLC

Chiari Syncope

Sun, 11 May 2008 19:59:26 -0400

Recent posts reviewed cerebellar fits, neurally mediated syncope, and breath-holding spells. Today, we look at syncope in persons with the Chiari I malformation (CM-I).

Cases
A PubMed search for “Chiari syncope” reveals 31 reports, although the abstracts are not available for each. The earliest report listed, ‘Sneeze syncope’, basilar invagination, and Arnold-Chiari type 1 malformation, was published by Corbett et al. in 1976. He described a male adult with CM-I and syncope brought on by sneezing.

In 1978, BH Dobkin reported an adult patient with CM-I presenting with recurrent syncope with “modest neck extension”. EEG showed transient slowing but no seizures.

In 1982 F. Hampton, Bernard Williams and La Loizou, presented three cases with CM-I/syringomyelia and syncope. A 52 y/o woman without warning would blackout while standing. She had one further episode after posterior fossa decompression. Blackouts were preceded by headache in a 20 y/o man and in a 21 y/o man whose headache and blackout occurred when straining to urinate. Both had resolution of syncope following posterior fossa decompression.

In 1991, Weig et al. described two patients with frequent syncope and CM-I. A 23 y/o woman had syncopal episodes, most after head movement. She would develop vertigo, become dazed, and “within seconds, lose consciousness for 1-2 minutes.” She had been diagnosed with complex partial seizures or basilar migraine. EEG was normal. Spells resolved following posterior fossa decompression. A 22 y/o man developed arm weakness with coughing followed in 30 to 60 seconds by syncope. EEG was normal. His spells resolved after surgical decompression.

Also in 1991, Cirignotta et al. described a case of “convulsive non-epileptic attacks” in a 51-year-old man with CM-I. The following year, Alarcon et al. reported a 66 y/o woman with CM-I and syringomyelia had headache, syncope, blurred vision, and “an "electric-like" paroxysmal tingling of the hands” with coughing. In 1993, Palma et al. reported two young women with CM-I and syncope.

Loss of consciousness and apnea followed by cardiac arrest was described by Alegre et al. in a 31 y/o man after “brisk head movement.” Spontaneous recurrent apnea as the sole symptom of CM-I was reported by Martinez Soto et al. in 1995. In 2002, Aguiar et al. described a person with glossopharyngela neuralgia and “episodes of syncope when eating or swallowing.”

In 1999, Ziegler & Mallonee report a case of sudden death in a person with “repeated attacks of headache and syncope.” Diagnosis had been basilar migraine prior to discovery of CM-I and syringomyelia. This is the only case of sudden death in the list.

In 2005, Prilipko et al. reported the first case of a person with CM-I with syncope and postural orthostatic tachycardia syndrome (POTS).

Summary of Cases
The syncopal episodes, sometimes referred to as blackouts, were transient except in two with serious consequences: cardiac arrest or sudden death.

Syncope was brought on by coughing or sneezing in 3 patients and by neck extension or turning in another 3. In one patient, syncope occurred with straining at urination. Some patients had a warning headache, while others no warning at all prior to the sudden loss of consciousness. EEG performed in four patients was negative for seizure.

While the number of cases of Chiari syncope reported in the literature is small, in 2004, Diane Mueller and I published a report on the symptoms occurring in 265 patients with the Chiari I malformation with or without syringomyelia. We found 6.8% reported blackout spells as one of their symptoms.

Mechanism
In their 1976 report, Corbett et al. proposed “pressure transmission to the area of intracranial pathology” as the mechanism of syncope in CM-I. Subsequent authors supported brainstem compression as the likely cause.

Ventricular and lumbar CSF pressures were measured in two patients in the Hampton et al. study. Pressure dissociation was demonstrated in a patient with episodes of apnea and cough headache. This supports a pressure differential at the level of the foramen magnum as a factor in triggering syncope.

In 1996, a prospective study by Ireland et al. measured the autonomic cardiovascular responses in 7 patients with CM-I and 2 patients with CM-II. Three of these patients had cough syncope while the others had cough headache, chronic headache, or other neurological symptoms. “Preoperatively, all patients exhibited abnormal control of heart rate in response to postural change.”

Five patients underwent surgery and each had resolution of their symptoms. Cardiovascular responses returned to normal on post-operative testing. These findings support abnormal autonomic control of heart rate as the underlying factor in persons with Chiari syncope.

In summary, brainstem compression in persons with Chiari syncope is likely due to dysfunction of autonomic control of the heart. If this dysfunction is significant enough, sudden loss of consciousness may occur without warning. In some, syncope is brought on by postural change and autonomic regulation is not able to respond adequately. In others, increased tonsillar impaction as seen with coughing or sneezing, or compression/distortion as may occur with head extension or turning, is enough to trigger failure of cardiac autonomic control.

Next week: Summary of this series.

John Oro’, MD

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
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Copyright © 2007-2008 CyberMed, LLC

Breath-Holding Spells

Sat, 3 May 2008 19:11:29 -0400

Are neurally mediated syncope and breath-holding spells related? Do these spells have similar mechanisms as the cerebellar fits described in children with the Chiari I malformation?
To answer these questions, in a previous post we looked at NMS and in this post will look at breath-holding spells. Two types of breath-holding spells (BHS) have been described: cyanotic and pallid.
The cyanotic type, the more common of the two, is usually triggered by anger, frustration or, in some cases, a painful injury. The child may cry, overbreathe (hyperventilate), and then have a noiseless expiration. The skin becomes red or blue-purple and child stops breathing, looses consciousness, and becomes limp. Consciousness is regained in 1-2 minutes, and normal activity is resumed, although some will sleep for an hour or so.
The pallid type (also known as reflex anoxic seizure) is most commonly triggered by a painful event such as a blow to the head. There may be a single cry or none at all. The child becomes pale and looses consciousness. They may be drowsy or fatigued after the spell.
Both types of spells may be accompanied by brief muscle twitching (myoclonic jerks) or body stiffening. While often confused with a seizure, EEG’s performed after these spells have been normal.
In a review article (suggested in a comment by BJR), Dr. Robert Jeannette notes: “In some cases, a brief period of increased muscle tone, or opisthotonos, may be seen after or instead of limpness.” (Opisthotonos also occurs in cerebellar fits.)
Approximately 5% of children have breath-holding spells, usually between the ages of 6 months to 4 years. Boys and girls are equally affected.
Below is a description by a parent. Although the color of the skin is not mentioned, other features suggest a pallid type spell.

My three year old daughter stops breathing when she hurts herself badly.

The most recent episode was following a fall getting out of the bath when she caught her head on the shower screen. She did not cry, but just stared and held her breath.

I blew on her face, she gasped and then passed out. This lasted about 15 seconds (but felt longer) and then she recovered spontaneously.

She was a little nauseated and complaining of abdominal pain, having caught her tummy on the edge of the bath but she did not vomit.

Pathophysiology
Breath-holding spells have a physiological basis and are not due to emotional or behavior problems. A number of mechanisms have been proposed. Dr. Jeannette notes that:
...noxious stimuli may lead to centrally mediated cardiac inhibition through the vagus nerve. In turn, this mechanism may induce bradycardia or brief asystole and subsequent spells.
Similarly, cyanotic episodes may be caused by central inhibition of respiratory movements, again mediated through the vagus nerve. In both situations, cerebral hypoxia results.
Other suggested mechanisms include autonomic dysregulation, reduced sensitivity to hypoxia and hypercapnia, and abnormalities in pulmonary function. According to Dr. Jeannette, a “much less likely scenario” is the Arnold-Chiari malformation.
Recent Reports The recent study by Guilleminault et al. suggests abnormal nighttime breathing may be responsible for breath holding spells. Fourteen children with BHS were found to have sleep disordered breathing. Comprehensive evaluations revealed their upper-airways were narrow and their respiratory disturbance index was abnormal. The breath-holding spells disappeared following adenotonsillectomy.
An unusual case reported by Fujisawa et al. supports the brain stem as a site of origin. A 2-year-old girl underwent surgery for a tumor in the cervicomedullary junction (the area where the brain stem becomes the spinal cord):
Postoperatively, the function of the lower cranial nerves and cerebellum deteriorated and hemiparesis on the left became apparent, but she returned to the preoperative state in a few months. In addition, mild sleep apnea (Ondine curse) and severe cyanotic breath-holding spells occurred.

Treatment Dr. Jeannette recommends the following management:
It is most important to assure parents that although BHS are frightening to observe, they are benign and children will outgrow them.
Once an episode has resolved, the child should be reassured. However, drawing excessive attention to the event or expressing extreme worry to the child should be avoided.

A few cases may require treatment. Cases with iron deficiency anemia, though few, can be treated with iron supplements. Those with asystole or bradycardia can be treated with oral atropine. If severe and not responsive to atropine, a pacemaker may be required.
Di Pino et al. reported an infant with pallid breath-holding spells with frequent loss of consciousness. Cardiac monitoring revealed episodes of asystole lasting as long as 26 seconds. Implantation of a pacemaker resulted in complete resolution of symptoms. Wilson et al. reported a similar case.
The role of adenoidectomy and tonsillectomy, as mentioned above, is only recently being studied.
Conclusions BHS may be due to cardiac, airway, or pulmonary pathology. However, the most common mechanism appears to be nervous system dysfunction.
When trying to determine the frequency of CM-I in children with BHS, we need to consider that the spells frequently resolve as the child gets older, a finding that would not typically be expected if CM-I was responsible. As noted by Dr. Jeannette:
By the time patients are 4 years old, about half of breath-holding cases have spontaneously resolved; by age 6, about 90% have done so; and by age 7 or 8, virtually all have resolved.

However, apnea can occur in CM-I. Neurally mediated syncope, breath-holding spells, and cerebellar fits are likely to overlap to some degree. The question is, to what degree?

Next post in the series: Syncope in Chiari I.

John Oro’, MD

Chiari Times is not able to respond to specific patient inquiries.
For patient inquiries, please see one of the sites listed
in the Organizations section.

Copyright © 2007-2008 CyberMed, LLC