Beacon of hope for rare disease patients

Beacon of hope for rare disease patients

July 17, 2014 by Dara Gantly Leave a Comment

At the launch of the National Rare Disease Plan for Ireland was former Health Minister Dr James Reilly, TD; with Eibhlin Mulroe, CEO, IPPOSI; Avril Daly, CEO, Fighting Blindness; and rare disease patient Jamie O’Reilly

Dara Gantly examines what the long-awaited National Rare Disease Plan promises for the estimated 270,000 to 380,000 people in Ireland with a rare condition, who are often denied diagnosis, treatment and the benefits of research.

After months of being “very close” to seeing the new National Rare Disease Plan for Ireland 2014-2018 published, then Minister for Health Dr James Reilly finally launched the report on July 3 at the RCPI. In short, it promises to enhance access to orphan drugs and technologies, respond to the needs of patients and their carers, and address research gaps.

Minister Reilly believed the significance of the plan could not be overstated because it provided a roadmap — one very much based on an EU template — for the prevention, diagnosis and treatment of rare diseases.

The key recommendations of the Rare Disease Plan include the creation of both a Clinical Care Programme and a National Office for Rare Diseases. A designated Clinical Care Programme will improve specialist services and allow for the development of a joined-up model of care for patients, said the Minister.

“Meanwhile, the principal functions proposed for the National Rare Diseases Office include the identification of Centres of Expertise (CoEs) for various rare diseases, providing a helpline function for patients and families, and the surveillance of national rare diseases,” he added.

These CoEs will provide expert care for rare disease patients, bringing together and co-ordinating multi-disciplinary competencies and skills in order to service the specific medical, rehabilitation and palliative needs of rare diseases patients.

The centres will also provide education and training to healthcare professionals from all disciplines and provide accessible information adapted to the specific needs of patients and their families and of health and social professionals in collaboration with patient organisations.

The next step
All agree now that the next step is for the document to be incorporated into the HSE service plan for 2015. Welcoming the document, Philip Watt, Chairman of the Rare Disease Taskforce — which is made up of leading patient groups in Ireland in this area — said it offered a “beacon of hope” for the thousands of people in Ireland who are born with or who acquire a rare disease.

Rare diseases are those conditions that affect fewer than five people in 10,000, but there are so many kinds of rare diseases (between 6,000 and 7,000 identified to date) that having a rare disease is not in itself rare. It is estimated that between 6 and 8 per cent of the European population will have a rare disease in their lifetime, which equates to between 270,000 and 380,000 people in Ireland — although the precise number here with a rare disease is unknown.

Thus, among the first recommendations of the plan are moves to produce guidelines on coding and recording of rare diseases within relevant Irish health data systems that are consistent at European and global level. It is envisaged that HIQA will have a role to play in this, given its functions regarding information standards.

The plan also pledges that the Department of Health and HSE will put in place, over the five years of the strategy, a coherent system to conduct broad epidemiological surveillance of rare disease. This epidemiological surveillance should include profiling of rare diseases among high-risk cultural and ethnic minority groups for the purposes of appropriate neonatal screening and improving diagnosis and outcomes.

Newborn screeningThe plan suggested that the HSE Governance Committee/Group on Newborn Screening within the Integrated Services Directorate be expanded to include a patients’ advocate. The Committee should consider the population benefits of newborn screening, including whether programmes need to be expanded or modified, and the need for carrier screening. The Department of Health should provide a policy framework for population-based screening programmes.

Hawkins House should also consider addressing the need for a review of legislation that indirectly impinges on the Newborn Bloodspot Screening Programme.

Rare disease patients are sometimes described as the ‘orphans’ of the health systems, often denied diagnosis, treatment and the benefits of research. But the new plan wants to put this right.

Since about 80 per cent of rare diseases are genetic in origin, effective genetic services have a vital role to play in relation to diagnosis. But the plan accepts there are challenges here.

The National Centre for Medical Genetics (NCMG) at Our Lady’s Children’s Hospital, Crumlin, provides diagnosis and genetic counselling for all genetic rare diseases referred to it. The Centre processes approximately 13,000 cytogenetic and molecular genetic tests each year and tests for 19 specific gene defects. When a genetic test is not available from a laboratory in Ireland but is clinically indicated, DNA samples are sent to specialised laboratories abroad (with 740 ‘send out’ tests listed in the NCMG database).

The Rare Disease Plan acknowledges that considerable staffing and funding challenges have occurred in recent years. A report submitted in late 2012 to the Clinical Leads in Paediatrics indicated a waiting time of 12-24 months for referral to the NCMG. Long waiting times also impact on, for example, immediate access for linked programmes such as the National Centre for Inherited Metabolic Disorders (NCIMD). It is important that genetic counselling also be offered to and provided for those individuals and families that require it and would benefit by it, the national plan adds.

Staff shortagesHowever, as mentioned, although the NCMG aims to promote services in a clinically appropriate manner, a considerable challenge persists in terms of under-resourcing of clinical staff, the report adds. The Royal College of Physicians UK recommends a minimum of three consultant geneticists per million population and the Association of Genetic Nurse and Counsellors UK (AGNC) recommends one full-time genetic counsellor per 100,000 population. Applying these ratios to the Irish (RoI) population would imply a total of 14 WTE consultants and 46 genetic counsellors (NCMG, 2010).

The Northern Ireland Genetics Service has 6.5 WTE consultants, one trainee registrar, 6.5 WTE genetic counsellors and one WTE family history nurse for a population one-third the size of the Republic.

“Ireland has the lowest population ratio of genetics staff of 10 European countries studied (see here),” the report notes. Indeed, as of October 2013, Ireland had one clinical consultant per 1,150,000 of its population.

Waiting times are also an issue for patients seeking expertise once diagnosed. Responses from a consultation exercise carried out suggested that between one-in-four and one-in-five of rare disease patients waits over a year for assessment by an appropriate rare disease specialist. Respondents felt that an appointment with a specialist should follow within three months of referral by a GP.

Residential respite care should also be made available for children with rare diseases, the plan also recommends, including in-patient hospice beds and hospice-at-home teams.

Orphan drugsIn terms of access to drugs, the HSE is to develop a Working Group to bring forward appropriate decision criteria for the reimbursement of orphan medicines and technologies. The approach should include an assessment system similar to that for cancer therapies established under the National Cancer Control Programme and link with the CAVOMP at European level.

At present, orphan drugs and technologies are assessed through the same mechanism as all other drugs and technologies. In 2012, industry and the State agreed that they would accept a cost-effectiveness threshold of €45,000 per quality-adjusted life-year in the health technology assessment process. It was also agreed that ‘exceptional’ products that failed to satisfy the €45,000 threshold could be processed subject to meaningful discussions between the HSE, Department of Health, relevant clinicians and the relevant marketing authorisation holder.

Health technology assessments are commissioned and carried out by the National Centre for Pharmacoeconomics (NCPE) and the Centre facilitates meaningful discussions through IPPOSI — the Irish Platform for Patients’ Organisations Science & Industry — with patients’ representatives where the relevant orphan medicinal products under review are viewed ‘exceptional’.

The rare disease plan says it is possible to argue that having the same system for assessment ensures decisions around pricing and reimbursement of orphan medicines are not made without first considering the potential for non-provision of other services to patients with rare diseases or services to other patients.

However, it is also possible to argue that assessing orphan medicines in the same way as other medicines may disadvantage them.

“It is argued by some stakeholders that the price of an orphan drug is set by a manufacturer to recoup research and development costs and attain a profit margin,” the document states. Thus, the plan believes the assessment and reimbursement process of orphan drugs may need to be tailored to the specific issues surrounding rare diseases.

The HSE will thus undertake a preliminary economic evaluation of current activity and costs for orphan medicine and technologies for rare disease patients across all hospital settings. It also wants applications for the use of orphan medicines and technologies in hospitals to be dealt with in the context of a national budget, rather than through individual hospital budgets.

EU linksMuch of the impetus for these changes has come from Europe. In 2008, the EU Commission adopted a Communication on Rare Diseases, followed in 2009 by a Council Recommendation. Both seek to improve recognition and visibility of rare diseases and develop European cooperation, coordination and regulation for rare diseases.

The recommendation called upon Member States to adopt national plans or strategies for rare diseases by the end of 2013 in order to ensure universal access to high-quality care for all patients.

Technical assistance and training tools to help EU countries create these national plans has been developed thanks to the EUROPLAN Project and Joint Action co-financed by the Commission’s Health Programme.

In his foreword in the plan, Minister Reilly reiterated that the policy framework envisaged a combined approach within the EU to diagnose and treat people with rare diseases. “We must deepen links with facilities and institutions in other countries where specialist services are available that may be absent in Ireland,” he noted.

Gathering expertise at European level is paramount in order to ensure “equal access to accurate information, appropriate and timely diagnosis and high-quality care for rare disease patients”, the plan goes on to note.

The National Clinical Programme for Rare Disease through the National Office for Rare Diseases will develop the clinical and organisational governance framework that will underpin care pathways and access to treatment for rare disease patients, particularly in the context of the transition from paediatric care to adult care.

While healthcare pathways may be well defined in Ireland for some rare disorders (e.g. hereditary coagulation disorders), through well established CoEs, for many conditions and for ultra-rare disorders, the plan accepts that there may not be sufficient local expertise in Ireland. “For such situations, the development and use of European Reference Networks (ERNs) is particularly relevant,” it notes.

At EU level, the Directive on Patients’ Rights in Cross-Border Healthcare will also influence the implementation of Ireland’s National Rare Disease Plan in coming years, the document states.

Funding issuesAs with any plan published in recent years, the economic realities of 21st-Century Ireland will have an impact on the implementation of the rare disease strategy. In this regard, the rare disease plan pledges that the present budgetary environment shall be “explored” to “identify and exploit” all opportunities for progressing this national plan as the future platform to address the care and treatment of people with rare diseases.

“The service planning mechanism provides an accountability framework with respect to the delivery of health services. Rare disease management programmes should be specified within the HSE Service Plan mechanism,” it states.

And looking further forward, there will be an overall review of the National Rare Disease Plan prior to development of the next plan in 2019. Forward thinking indeed on an area of care that too often in the past was not given a second thought.

Chronic Pain Coping & Transformation -- 2013 Women In Pain Conference

Women in Pain Conference My Friend Radene who is one of Dr Tennant's Patients

Irish Healthcare; Is It Caring for Rare Disease?: Dr. Forest Tennant -- Chronic to Central Pain: Wa...

Irish Healthcare; Is It Caring for Rare Disease?: Dr. Forest Tennant -- Chronic to Central Pain: Wa...: Brilliant Video explaining Chronic central Pain, a must watch for all Chronic Pain Patients,including all the tests that can be carried out ...

Dr. Forest Tennant -- Chronic to Central Pain: Warning Signs & Tips

Brilliant Video explaining Chronic central Pain, a must watch for all Chronic Pain Patients,including all the tests that can be carried out proving your pain,and what can be done to help,

Love Sharon xx soft hugs xx

Epidural Steroids May Increase Fracture Risk

http://www.medscape.com/viewarticle/806370

Lumbar epidural steroid injections (LESIs) are associated with an increased risk for spinal fracture, according to the results of a large retrospective analysis.

Just a single additional LESI increased the risk for fracture by 21%, Shlomo Mandel, MD, MPH, an orthopedic surgeon from the Henry Ford Health System, Detroit, Michigan, and colleagues report in an article published in the June 5 issue of the Journal of Bone and Joint Surgery. Moreover, "an increasing number of LESIs was associated with an increasing likelihood of fracture," they write.

Therapeutic steroids may reduce the pain of lumbar radiculopathy when less-aggressive treatments fail, the authors explain. However, use of LESIs could promote deterioration of skeletal quality, "particularly after frequent and prolonged treatment. Indeed, exogenous use of steroids is the leading cause of secondary osteoporosis."

Dr. Mandel and coauthors identified 50,345 patients who had been treated in the Henry Ford Health System and whose records contained at least 1 of the spine-related diagnosis codes included in the International Classification of Diseases, Ninth Edition (ICD-9). Of those, 3415 patients had received at least 1 LESI. The researchers randomly selected 3000 patients from the LESI group for the analysis and matched them with a control group of 3000 patients who were similar with respect to demographic features, recent exogenous steroid exposure, and metabolic conditions that influence bone integrity, but who had not undergone LESI. In the LESI group, the researchers examined patient records for the 5 years after the date of their first injection or the time when their documented history ended. For the control group, the researchers examined their records for the 5 years after diagnosis with a relevant disorder.

The median ages for the LESI and control groups were 66.41 ± 10.53 years and 66.49 ± 10.61 years, respectively (P = .930). Of the 10 ICD-9 diagnoses studied, only lumbago was significantly more prevalent in the control group (91.9% of patients vs 90% in the LESI group; P = .011), whereas the patients receiving LESI had significantly more sciatica (44.9% vs 40.7%; P = .021). There were no other significant differences between the 2 populations with respect to ICD-9 codes, and the authors point out that even the statistically significant differences were small in absolute terms.

The authors found that "[i]ncreasing the number of injections by one increased the risk for fracture by a factor of 1.21 (95% confidence interval [CI], 1.08 to 1.30...p=.003)." Among patients who sustained multiple fractures, LESI was associated with a hazard ratio of 1.29 (95% CI, 1.22 - 1.37; P = .001).

"[W]e demonstrated a significant increase in the risk of vertebral fractures among patients treated with LESIs," they conclude.

This "is the first scientifically rigorous effort to quantify the fracture risk associated with epidural steroid administration," Andrew J. Schoenfeld, MD, from the William Beaumont Army Medical Center, El Paso, Texas, notes in a accompanying commentary .

Other authors have worried that LESIs might exacerbate skeletal fragility, but supporting evidence has been scarce, Dr. Schoenfeld points out. "Of greater concern, the definable fracture risk as documented by Mandel et al. should be set against the best available evidence regarding the long-term efficacy of these interventions, which is admittedly less than robust."

Still, he advises readers to make note of the study's limitations, including the retrospective nature of the analysis, the heterogeneity of the indications used for performing LESIs, and the fact that some patients who received LESIs may have sought treatment elsewhere for any fractures. "This fact in and of itself could potentially confound some of the findings, and the rate of vertebral fracture following epidural steroid injections may be underestimated as a result." He recommends that clinicians consider these findings before prescribing LESIs for elderly patients.

The authors have various financial disclosures. Full conflict-of-interest information is available on the journal's Web site. Dr. Schoenfeld has disclosed no relevant financial relationships.

J Bone Joint Surg Am. 2013;95:961-964; e78(1-2). Article abstract, Commentary extract

Cannabis in Pain and Arthritis: A Look at the Evidence

http://www.medscape.com/viewarticle/827241_2

http://www.medscape.com/viewarticle/827241_2

Cannabis in Pain and Arthritis: A Look at the Evidence

On Thursday, June 12, 2014 -- day 2 of the 2014 European League Against Rheumatism annual congress -- Dr. Mary-Ann Fitzcharles took the podium to discuss the use of medicinal marijuana in rheumatologic diseases. Dr. Fitzcharles is Associate Professor of Medicine in the Division of Rheumatology at McGill University in Montreal, and her talk^[1]was part of a symposium looking at the possibility of repurposing old or established analgesics for rheumatic diseases.

Fitzcharles began her talk with a historical look at cannabis use. The plant was first used in Europe and Asia around 5000 years ago, at which time scientists believe it contained very little tetrahydrocannabinol (THC), the primary psychoactive substance in today's marijuana. Eventually, more THC-heavy strains were propagated, and the ancient Chinese began using the plant medicinally around 2700 years ago. "Queen Victoria used cannabis for her menstrual cramps," Fitzcharles commented.

She then posed the question of why we have an endogenous cannabinoid system in the first place, before reviewing the correct dogma among experts. It's thought that our cannabinoid system is involved in maintaining homeostasis, particularly in terms of stress, sleep, and modulation of pain. Furthermore, although they are often thought of for their neuro- and psychoactive effects, cannabinoid receptors are actually fairly ubiquitous throughout the body. They're found on cells of the joints, bone, skin, and immune system, as well as on neurons.

Preclinical work in animals has found cannabinoids to be effective in nearly every acute pain model tested, likening them to some opioids in terms of their analgesic effects. Rodent models of arthritis demonstrate increased endocannabinoids in the spinal cord and upregulation of both cannabinoid receptor subtypes, CB1 and CB2. A recent study reported at the European Calcified Tissue Society Congress 2014 found that mice with destabilized knee joints had 40% more cartilage degeneration if they were deficient in these CB2 receptors.^[2] A study in humans suggests the presence of cannabinoid receptors on the synovia.^[3] So it appears that the endocannabinoid system has relevance to rheumatology.

However, with the good comes the bad, particularly in terms of brain function. Too much cannabinoid exposure can worsen memory, affect the reward system (and therefore have addiction implications), and impair cognition.

Moving on to studies in humans that have looked at cannabis as a therapy in rheumatic disease, Fitzcharles highlighted the fact that there is a very limited body of data to go on. One study examined medical marijuana in rheumatoid arthritis, 5 have been conducted in fibromyalgia, and there isn't a single randomized controlled trial of cannabis in any rheumatic disease.

The rheumatoid arthritis study,^[4] published in 2006 inRheumatology, reported that Sativex® -- a cannabis-based medicine -- produced statistically significant improvements in multiple pain measures in 58 patients over 5 weeks. The investigators acknowledged that the differences were small yet probably clinically relevant, and that there were no adverse event-related withdrawals or serious adverse events in the active treatment group.

Two studies looked at the synthetic THC nabilone in fibromyalgia. The first^[5] was a randomized controlled trial of 40 patients; at 4 weeks, treatment was associated with significant decreases in the visual analog scale for both pain and anxiety. There were no significant improvements in the placebo group. Side effects were minimal, though more frequent, in the treatment group -- particularly drowsiness. The other study of nabilone^[6] was conducted by Fitzcharles' group in Montreal and determined the agent to be equivalent to amitriptyline in improving sleep in patients with fibromyalgia, while also being well tolerated.

Other recent work^[7] associated cannabis inhalation with a significant reduction in pain and stiffness, enhanced relaxation, and -- perhaps not surprisingly -- an increased feeling of well-being. A small study^[8] of 9 patients looked at the efficacy of oral THC on electrically induced pain, axon reflex flare, and psychometric variables. Five of the participants withdrew owing to adverse side effects. Although THC had no effect on axon reflex flare, patients' daily recorded pain was significantly reduced. The investigators concluded that the unaffected electrically induced axon reflex flare, but decreased pain perception, suggests a central mode of action of the THC.

Finally, another study by Fitzcharles and colleagues^[9] sought to provide epidemiologic clarity on cannabis use in fibromyalgia. Among 457 patients with the diagnosis, 13% were using cannabinoids, of whom 80% were using herbal cannabis (marijuana). The investigators concluded, "Although cannabinoids may offer some therapeutic effect, caution regarding any recommendation should be exercised pending clarification of general health and psychosocial problems, especially for those self-medicating."

Fitzcharles then walked the audience through some background data. In the United States, 10% of patients seen in chronic pain clinics use cannabis medicinally. Furthermore, she continued, 65% of those registered in Canada's medical marijuana access program report having severe arthritis.

Next up was a short botanical chemistry lesson. "Marijuana" typically refers to the leaves and buds of the Cannabis sativa plant and contains at least 60 cannabinoid molecules and around 100 noncannabinoid compounds. Pharmacologically, it's a complicated plant.

Where Do Clinicians Stand?

What does the medical community think about using marijuana as medicine? Fitzcharles presented data showing that in Colorado -- where both medicinal and recreational marijuana use are now legal -- 2% of the state's population were registered for medical marijuana in 2012.^[10] However, these findings come with a major red flag: 50% of physician marijuana recommendations came from just 15 prescribers. When polled, only 20% of Colorado physicians felt there was a medical role.^[11] Relatedly, Fitzcharles and her group polled Canadian rheumatologists,^[1] 75% of whom reported being uncomfortable about their knowledge around the effects of cannabinoids on the human body and their potential medical uses.

Of note, a Medscape survey from earlier this year of 1544 US physicians reported somewhat different results:

• 69% say it can help with certain treatments and conditions;
• 67% say it should be a medical option for patients;
• 56% support making it legal nationwide;
• 50% of doctors in states where it is not legal say it should be legal in their states and
• 52% of doctors in states considering new laws say that it should be legal in their states.

  So Does Cannabis Belong in the Clinic?

  The overarching theme of much of Fitzcharles' talk was that the majority of the medical community seems reticent to fully embrace medical marijuana, on the basis of the current body of knowledge. Despite the availability of purified THC formulations, most marijuana used for medical purposes is smoked -- not a practice encouraged by most physicians, because it could come with inhaling numerous potentially toxic substances. In addition, the wildly different THC concentrations -- ranging from 1% to 30% -- in today's marijuana strains and varied bioavailability make it incredibly tough to dose with any accuracy.

  Fitzcharles feels that beyond limited efficacy data and nonstandardized formulations, the use of cannabis in rheumatic and other conditions is further hindered by potential acute risks.

  Short-term use alters sensory perception, temporarily impairs memory, and induces thought fragmentation. Psychomotor effects are common, as are mood alterations and even -- perhaps paradoxically given marijuana's relaxed reputation -- anxiety. However, Fitzcharles continued, "Pain relief...that's good. That's what we're looking for." Then, speaking about the potential benefits of medical marijuana, she continued, "and increased appetite might be good for wasting diseases."

  Another ding for medical cannabis are potential cardiovascular risks including tachycardia and, per a new French study,^[12] an increased rate of cardiovascular events. But then again, cannabis has also been shown to decrease blood pressure. In short, the jury is still out.

  Fitzcharles then highlighted a Dutch study^[13] looking at the cognitive effects of acute marijuana use in young, healthy regular users. Participants smoked marijuana in a monitored research setting, and various mental faculties were assessed. Even in seasoned users, there were marked dose-related reductions in reaction time, selective attention, short-term memory, and motor control. A recent meta-analysis correlated acute cannabis use with twice the risk for injury or death by motor vehicle accident.^[14]

  Fitzcharles then pointed out that cannabis use also comes with increased risk for psychological disorders, such as psychotic disease, depression, and anxiety, as well as suicide. Also, despite frequent rumors to the contrary, there is a risk for dependence and abuse associated with cannabis use. Psychological dependence appears to be equal to that of alcohol and occurs in at least 8% of users within 1 year of starting marijuana use. Even pharmacologic formulations can be abused, but they're expensive -- and, somewhat ironically, not as easy to come by for many.

  "We need to distinguish herbal vs pharmacologic cannabis preparations, and also think about the increased risks that come with use of any kind," said Fitzcharles, nearing the end of her talk, before concluding that the cannabinoid system appears to be quite important in rheumatic disease and that researchers and clinicians should push for research to better understand how this system is involved in rheumatologic disease and how cannabinoid therapies could be beneficial. In her opinion, pharmacologic preparations are a more desirable approach, given that smoking herbal cannabis comes with many medical and societal questions. Ideally, a medicinal compound would be more therapeutically targeted and less psychoactive. In addition, she feels strongly that clinicians should discourage their patients from smoking cannabis.

  After the talk, California Pacific Medical Center rheumatologist and Session Co-chair Neal Birnbaum, MD, commented that he lives near some of the best marijuana in the United States -- adding, "So I'm told," to audience laughter -- and that many patients walk out with a marijuana and a hydrocodone script. "I'm not sure they realize how serious this is," he commented.

Anatomy of the sacrum

https://www.ceessentials.net/article47.html

More info from the above link

Anatomy of the sacrum

The sacrum is anatomically classified as part of the vertebral column articulating superiorly with the fifth lumbar vertebra at the lumbosacral junction. The sacrum and coccyx are the distal portions of the vertebral column and are also structurally part of the pelvis. The sacrum and coccyx are classified as irregular bones and are also atypical vertebrae. A typical vertebra is a single bone having distinct parts like the spinous process, transverse processes, vertebral body and foramen, pedicles and lamina. The sacrum is actually a composite bone formed by the fusion of its 5 sacral vertebrae into a single bone at about age 20 years. This fusion presents distinct anterior and posterior sacral landscapes. On the whole, these fused sacral segments can still be identified on the adult sacrum allowing for accurate localization numbering. The main functions of the sacrum are to strengthen the pelvis, which stabilizes it, and transmitting the weight of the body to the pelvic girdle through the sacroiliac joints (SI joints). To perform these functions the sacrum forms five main articulations: 1-2) two with the inferior articular processes of the fifth lumbar vertebra, 3-4) bilaterally with the ilium to form right and left sacroiliac joints, and 5) inferiorly with the coccyx.

The anterior or pelvic surface of the sacrum is concave, which is a shape that adds depth to the pelvic cavity. This surface forms the posterior ring of the pelvis. Four pairs of foramina are seen on the anterior surface. They are the remnants of what would be intervertebral foramen of a typical vertebra seen in other parts of the spine. Structures seen on the anterior surface include: prominent sacral wings (called ala), superior articular processes, sacral promontory, transverse ridges (lines), vertebral bodies, and anterior (pelvic) sacral foramina. Sacral vertebrae are numbered from top to bottom so that the superior vertebra is the first sacral vertebra. It articulates with the 5th lumbar vertebra. Distally, the 5th sacral vertebra articulates with the 1st coccygeal segment. The 1st sacral vertebra articulates with the 5th lumbar vertebra through their articular processes forming bilateral zygoapophyseal joints at the lumbosacral junction. Thus the lumbosacral junction occurs at the L5/S1 articulations.

Rare disease plan aims to provide better patient care

Rare disease plan aims to provide better patient care

A new plan for the treatment of rare disease in Ireland should lead to faster diagnoses, improved access to care and better support for patients and their families, Minister for Health James Reilly has said.

The National Rare Disease Plan, published today, outlines proposals for a new clinical care programme specifically for the treatment of rare diseases, which affect an estimated 6 to 8 per cent of people in their lifetime. Illnesses which affect fewer than five people in every 10,000 are considered “rare diseases”, with about 8,000 identified in Ireland.

The plan also recommends the establishment of a dedicated national office for rare disease, to coordinate access to medical expertise and provide information to patients and medical practitioners about new treatments and clinical trials.

A system to provide residential care for children with rare diseases is also recommended, as well as the development of a rare disease research network to enhance the quality of research in Ireland.

The plan, which is to be implemented over the next five years, is the result of an European Council recommendation in 2009 for all member states to develop an action plan for the treatment of rare diseases.

Speaking at the publication of the report today, Mr Reilly said rare disease poses a particular challenge for a small country like Ireland, where particular conditions may affect a very small number of people.

“In comparison to more widespread conditions, there is a scarcity of relevant knowledge and expertise available to facilitate a swift diagnosis,” he said.

This plan marks “a significant step towards making this process shorter and less frustrating”, he added.

Thanking the various patient groups for their contribution to the Rare Disease Task Force, Mr Reilly said the patients themselves must be at the centre of the new policy.

“At the very centre of the research, the planning and decision making, is the patient. People living with a rare disease and their families, especially parents of young children, are often the leading experts in their diseases.”

Speaking on behalf of the patient groups involved, chief executive of Cystic Fibrosis Ireland, who chaired the task force, said the plan “offers a beacon of hope for the thousands of people in Ireland who are born with or who acquire a rare disease”.

He said however that the plan must be viewed as “a good start, not as a good finish”, and it was vital that services are adequately resourced if the aims are to be achieved.

National patient representative for rare disease on the Minister for Health’s steering group Tony Heffernan, whose second child died from Batten disease in May, said that while the report was welcome, there must be “an increased effort by the government to ensure that health system can provide appropriate care, support and understanding to those affected”.

“A policy is only as good as the result it produces; I will personally monitor measure and report on the effective rollout of the plan by the national stakeholders responsible for its implementation,” he added.

Chair of the Special Needs Parents Association Lorraine Dempsey called for better support and State funding for small organisations working with patients of rare diseases and their families.

“Many rare disease support groups function as the only support and information provider for a particular rare condition,” she said. “Over half are voluntary, and don’t necessarily meet criteria for funding… Fundraising should not be the key goal for these organisations.”

Mr Reilly said the plan had been drawn up with the cooperation of health authorities in Northern Ireland, and will be discussed further at a meeting tomorrow between himself and Northern Ireland health minister Edwin Poots.

National Plan for Rare Disease Ireland

http://www.tv3.ie/news_sub_page.php?video_id=81788&locID=1.2.883

http://www.tv3.ie/news_sub_page.php?video_id=81788...

Plan for people with rare diseases launched

www.tv3.ie

A national plan for people with rare diseases was launched today. People living with rare diseases say quicker diagnosis is needed.

Rare disease national plan for Ireland (meeting in Dublin)3rd July 2014

 I was home from the meeting in time to catch the news about the Launch National plan for rare diseases in Ireland,
Its a great stepping stone for Rare disease Patients both north and South of the Border,
Love Sharon xx soft hugs xx

Spine Surgery, 2-Volume Set: Techniques, Complication Avoidance and Management (Expert Consult -

TEXTBOOK CHAPTER WRITTEN BY DR. FEIGENBAUM , DR. FRASIER,
and DR. VOYADZIS.!

http://www.amazon.com/Spine-Surgery-2-Volume-Set-Complication/dp/1437705871

Chapter 115 – Page 1135  I just looked through the Index Love Sharon xx soft hugs xx

Spine Surgery, 2-Volume Set: Techniques, Complication Avoidance and Management (Expert Consult - Online and Print), 3e [Hardcover]

Edward C. Benzel MD (Author)

Tarlov Cysts

Frank Feigenbaum,
Jean-Marc Voyadzis,
Fraser C. Henderson

A Tarlov cyst is a bulbous enlargement of a spinal nerve root cerebrospinal fluid (CSF) space that is distinct from other meningeal cysts, such as dural ectasia or meningeal diverticula. Tarlov cysts most often are found in the sacral spinal canal, where they can produce bone erosion and compression of adjacent spinal nerve roots, resulting in a debilitating sacral radiculopathy syndrome.

Tarlov first described these cysts in 1938 during his autopsy studies of the filum terminale at the Montreal Neurological Institute.[1] Since his seminal report, numerous cases of symptomatic Tarlov cysts have been published in the literature.[2-7] With the advent of MRI, our ability to diagnose meningeal cysts, such as Tarlov cysts, has been enhanced.

The treatment of symptomatic Tarlov cysts has evolved, along with our understanding of their pathophysiology. Various therapeutic strategies have been described over the years, with more recent literature trending toward definitive surgical treatment. In this chapter the pathologic, radiographic, and clinical characteristics of Tarlov cysts are presented, and the current treatment options are discussed.

Epidemiology and Histology
Tarlov, or perineurial, cysts are one of the most common forms of meningeal cyst. Estimates of the prevalence of meningeal cysts, including Tarlov cysts, in the general population vary, but generally are in the 5% range.[8] In a study of 500 consecutive patients with back pain undergoing lumbosacral MRI, 5% were found to have one or more meningeal cysts. Among this latter group, the cyst was thought to be the source of the symptoms in 1% of the cases. Tarlov cysts, particularly those that are symptomatic, are more common among women. The reason for this is unclear, and we have postulated that there may be gender-related differences in the fundamental make-up of dura mater or spinal nerve roots that produce this epidemiologic disparity.

Tarlov distinguished perineurial cysts from other meningeal cysts based on several histologic criteria.[1,9,10] He defined them as perineurial dilations that develop between the endoneurium and perineurium, typically of the S2 or 3 nerve roots, just proximal to the junction of the dorsal root ganglion and nerve root (Fig. 115-1). Simply stated, each cyst is a dilated spinal nerve root sheath, and the individual nerve fibers of that root are found running within the cyst cavity or its inner lining. Other meningeal cyst subtypes, such as meningeal diverticula and arachnoid cysts, typically are devoid of nerve root fiber elements.

FIGURE 115-1 This diagram illustrates some of the different types of dural meningeal cysts, including the perineurial (Tarlov) cyst.

Tarlov cysts can be single or multiple, and can develop anywhere along the spine where nerve roots are present. Progressive cyst enlargement can cause significant bony erosion and impingement of adjacent spinal nerve roots, producing corresponding radiculopathies. For example, a Tarlov cyst in the sacral spinal canal arising from the S3 nerve root can cause symptomatic impingement of the ipsilateral S2 nerve root beside it, and of the S4 or S5 nerve root below (Fig. 115-2). A Tarlov cyst can also produce contralateral symptoms if it is large enough to extend across the midline and compress contralateral nerve roots. Additionally, the nerve root fibers running inside a Tarlov cyst often are attenuated and splayed out over the inner wall of the cyst. This neural fiber alteration and stretching also are suspected of causing symptoms.

FIGURE 115-2 Axial (A) and sagittal (B) T2-weighted sacral MRIs reveal a large Tarlov cyst in the S2 region central and rightward within the spinal canal. Its contents have imaging qualities similar to those of cerebrospinal fluid (CSF), and there is widening of the spinal canal around it due to bone erosion. A compressed nerve root is seen adjacent to the cyst (arrow)C, Intraoperatively, the compressed nerve root (upper Penfield dissector) was visualized after retracting the cyst (lower Penfield dissector). The cyst was found to arise from the S3 nerve root, and the compressed nerve root was S2. D, View inside a Tarlov cyst. The nerve root fibers enter the cyst through the ostium and then splay out over the cyst wall.

Tarlov cysts occasionally can be found in combination with other meningeal cysts. For example, patients with connective tissue disorders, such as Marfan syndrome, can have Tarlov cysts and large ectatic dural cysts so extensive that the distal spinal sac extends out into the pelvis (Fig. 115-3).

FIGURE 115-3 This coronal T2-weighted MRI of the sacrum from a patient with Marfan syndrome reveals multiple meningeal cysts. The distal spinal sac continues on as a large ectatic dural cyst eroding rightward into the sacrum. Also, multiple separate Tarlov cysts are seen adjacent to the spinal sac, particularly on the left (arrow).

The pathogenesis of Tarlov cysts remains unclear. Tarlov proposed that cyst formation could be the result of trauma, ischemic degeneration, inflammation, or hemorrhagic infiltration from the subarachnoid space.[1,9,10] Some patients with symptomatic Tarlov cysts report a history of sacral trauma, and evidence of old hemorrhage in the form of hemosiderin deposits and dystrophic calcification within Tarlov cyst walls supports prior trauma as an etiologic factor.[7,11-13] Other reports have suggested that Tarlov cysts result from arachnoidal proliferation or blockage of perineurial fluid flow.[14,15] Nabors et al. support a developmental origin, although an association between Tarlov cysts and spinal dysraphism is not as strong as that with other types of meningeal cysts.[16] Only two patients with symptomatic Tarlov cysts and spina bifida have been reported, and the relationship could have been coincidental.[7,17]

Strully et al.[18,19] and Smith[20] proposed that Tarlov cysts form as a result of increased CSF hydrostatic pressure. They point out that spinal nerve roots are in communication with the thecal sac, and that there is myelographic evidence that spinal fluid flows within the nerve roots and could produce dilatation due to either higher hydrostatic pressure or inherent, traumatic, or iatrogenic weakness in the nerve root sheath. They also point out that the frequency and size of Tarlov cysts along the spine can be correlated with the rostral-caudal hydrostatic pressure gradient.[17,18] Several reports on patients with Tarlov cysts have documented either a history of straining or coughing or an exacerbation of symptoms by these maneuvers.[7,10,11,18] We also are aware of two cases of Tarlov cysts in patients with pseudotumor cerebri. However, no criteria have been established to determine who might benefit from CSF shunting for Tarlov cysts, and investigations are ongoing.

Diagnosis
The treatment of a symptomatic Tarlov cyst first requires a correct diagnosis. Unfortunately, many patients languish with undiagnosed or untreated symptomatic cysts due to the incorrect “rule” that Tarlov cysts always are asymptomatic, regardless of the presence of blatant compression of adjacent nerves or extensive bone erosion. Such patients often are relegated to an escalation of narcotics, injection procedures, and neuromodulatory medications as they become progressively more symptomatic. It is not uncommon to encounter patients who have developed narcotic dependency after management with extended-release morphine, transdermal fentanyl, or implanted pain pumps before they are finally referred for meningeal cyst evaluation.

Even more unfortunately, we have encountered patients with symptomatic Tarlov cysts that were misdiagnosed with a variety of other ailments and treated unsuccessfully with a variety of procedures, such as hysterectomy, laparoscopic exploration, endometriosis surgery, oophorectomy, appendectomy, surgery for piriformis syndrome, sacroiliac joint fusion with implanted cages, fusion of degenerative discs in the adjacent spine, coccygectomy, and urinary bladder procedures (Fig. 115-4).

FIGURE 115-4 A, Preoperative axial T2-weighted MRI of the sacrum from a patient with a large Tarlov cyst (white arrowhead). A compressed nerve root is just visible to the right of the cyst (black arrowhead). B, This axial CT scan reveals that the patient was misdiagnosed with sacroiliac joint instability. The symptoms did not improve following insertion of a threaded titanium cage to fuse the joint. Symptoms improved only after later treatment of the Tarlov cyst, which can be seen expanding and eroding the ipsilateral spinal canal.

Symptoms
Tarlov cysts can be found anywhere spinal nerve roots are present and can produce corresponding radiculopathic symptoms. In our experience, symptomatic Tarlov cysts are most commonly encountered in the sacral region. The sacral radiculopathy pattern produced can include a multitude of symptoms, including sacral pain and numbness radiating down the backs of the legs to the bottoms of the feet in the S1 or S2 dermatomes; perineal pain; rectal pain; numbness in the S2-5 dermatomes; neurogenic bladder findings such as urgency, frequency, nocturia, and urinary retention with the need to perform a Valsalva or Credé maneuver to initiate voiding (S3-4); bowel dysfunction requiring the use of laxatives (S2-3); dyspareunia in women; and erectile/sexual dysfunction in men. Symptoms often are positional, being exacerbated by sitting or standing and improved by lying down. This finding supports the notion that symptoms are related to variations in hydrostatic cyst pressures. Cyst expansion also can produce adjacent bone erosion, resulting in painful insufficiency fractures.

Patients typically describe a crippling inability to sit, describing the feeling as being like “sitting on a rock,” causing them to constantly shift from hip to hip when seated in a fruitless quest to find a comfortable position. They often are unable to participate in sitting-related activities, such as driving, working seated at a desk, dining out, or going to movies, events, and religious services. Many patients are forced to carry cushions or pillows to sit on wherever they go in an attempt to ameliorate their seated discomfort.

The severe limitation on quality of life experienced by these patients often costs them their employment, results in depression as they find themselves progressively housebound and unable to participate in social activities, and contributes to marital dysfunction and divorce. Making matters worse, some patients may be told by medical professionals that Tarlov cysts are always asymptomatic, despite obvious evidence to the contrary.

Differential Diagnosis
The surgeon should be aware of a host of disease entities that may be comorbid or confused with symptomatic Tarlov cysts.

Hydrocephalus, Benign Intracranial Hypertension, or Pseudotumor Cerebri
In addition to producing symptoms such as headaches and visual changes, increased intracranial pressure also may be a factor in the causation of Tarlov cysts. Our evaluation with spinal fluid taps revealed that 1 in 10 patients with symptomatic Tarlov cysts has consistently elevated opening pressures. To further confound the matter, patients with ongoing pressure issues can, like Tarlov patients, also experience back pain, paresthesias, and bowel and bladder changes.

Diagnosis of the subset of patients with comorbid increased spinal fluid pressure and symptomatic Tarlov cysts should rely on ruling out other causes of pain, and findings on a series of lumbar punctures that consistently reveal the CSF pressure to be elevated. An ophthalmologic examination for evidence of papilledema may be useful. However, there is no consensus on the selection criteria for shunting of patients with Tarlov cysts and its contribution to the amelioration of Tarlov cyst–related symptoms is being investigated.

Tethered Cord Syndrome
The presence of a tethered spinal cord sometimes may be overlooked in the setting of a radiographically impressive sacral Tarlov cyst. Such patients typically present with very similar symptoms, including pain and numbness in the low back or sacral region that radiates down the backs of the legs. They also can have overlapping bowel, bladder, and sexual dysfunction. As with Tarlov cysts, the onset of tethered cord symptoms may occur at any time in life, particularly following trauma, childbirth, or hyperflexion of the spine. Patients with connective tissue disorders such as Marfan or Ehlers-Danlos syndrome can have meningeal cysts, including Tarlov cysts, and occult tethered spinal cord even though the conus is at level L1-2 or above.

Unlike Tarlov cysts, however, tethered cord syndrome is associated with toe walking, flat feet or pes cavus, enuresis, and scoliosis. A spinal neurocutaneous marker sometimes may be present. The pain associated with tethered cord syndrome usually is more moderate, exacerbated by straight leg raising or other maneuvers that stretch the cauda equina, and is not affected by upright posture, as with Tarlov cysts. Muscle atrophy is prominent, and especially in the L5- and S1-related muscles. Imaging studies may reveal syringomyelia, descent of the conus to the L2 level or below, and a thickened fatty filum or a lipomeningocoele.

Spinal Stenosis and Occult Spondylolisthesis
Stenosis of the central canal or neural foramina can mimic Tarlov cyst–related symptoms and should be carefully ruled out with appropriate high-resolution imaging and dynamic radiographs. Overlapping symptoms common to both include radicular pain and numbness and urinary symptoms.

Cervical and thoracic stenosis symptoms not typical of Tarlov cysts include long-tract findings, such as spasticity and pathologic reflexes like the Babinski and Hoffman signs, and absence of the abdominal reflex. In cases of lumbar stenosis, patients usually describe pain in the lumbar area, whereas patients with symptomatic sacral Tarlov cysts complain more specifically about pain well below in the sacral region.

Other Masses
Schwannomas and neurofibromas can produce a radiculopathic pattern of symptoms similar to those of Tarlov cysts. They also can share imaging characteristics, such as a cystic appearance, lateral location in the spinal canal, and production of bone erosion and foraminal expansion (Fig. 115-5). However, Tarlov cysts do not enhance on MRI following the administration of gadolinium contrast, which is a characteristic typical of schwannomas and neurofibromas. Instead, they have signal characteristics similar to spinal fluid on all sequences, with the possible exception of differing signal when there has been hemorrhage or accumulation of stagnant, more proteinaceous, spinal fluid within a cyst.

FIGURE 115-5 A, This left S1 foramen mass appears hyperintense on T2-weighted imaging. B, Unlike a Tarlov cyst, however, it enhances on T1-weighted imaging following gadolinium administration. At surgery, the lesion was found to be a schwannoma.

We also have encountered other lesions with imaging characteristics similar to those of Tarlov cysts. For example, in one case, a large cystic lesion filling the left S1 foramen had the T2-weighted imaging appearance of a Tarlov cyst, but differed on other sequences (Fig. 115-6). Further workup revealed the lesion to be a large venous angioma within the spinal canal.

FIGURE 115-6 A, The cystic lesion seen centrally and to the left in the spinal canal has imaging characteristics similar to those of a Tarlov cyst on T2-weighted imaging. B, However, on T1-weighted imaging, the lesion is hyperintense to cerebrospinal fluid and has some areas of internal heterogeneity. Further workup with CT myelography, needle biopsy, and angiography revealed the lesion to be a large venous angioma.

Radiography
MRI currently is the gold standard for imaging meningeal cysts.[21,22] Not only is it useful for differentiating them from other lesions, but it also can help distinguish among the different types of meningeal cysts, including Tarlov cysts. For example, Tarlov cysts typically are lateral in the spinal canal and arise from an individual spinal nerve root. Nerve root fibers often are identifiable inside the cyst on T2-weighted images (Fig. 115-7). In contrast, meningeal diverticula are found centrally in the spinal canal, and arise from the tip of the spinal sac, not from an individual nerve root. When they are large, Tarlov cysts can be seen to erode and expand the spinal canal or neural foramina and extend into the retroperitoneal pelvis (Fig. 115-8).

FIGURE 115-7 The nerve root fiber bundle inside this sacral Tarlov cyst is clearly seen on an axial T2-weighted MRI.

FIGURE 115-8 A, Two large intrapelvic Tarlov cysts are seen on this axial T2-weighted MRI (black arrows). Also seen is a separate Tarlov cyst within the sacral spinal canal abutting a nerve root to the right of midline (white arrow). B, On this sagittal image from the same patient, the left intrapelvic cyst can be seen extending out through the S1 neural foramen ventrally into the retroperitoneum.

MRI also is superior for defining anatomic relationships with surrounding structures. For example, a careful review of imaging studies often reveals symptomatic cysts to be blatantly compressing adjacent nerve roots and displacing the spinal sac. Understanding these relationships preoperatively is critical for surgical planning.

CT myelography previously was used preoperatively to distinguish Tarlov cysts from other forms of meningeal cysts based on the premise that Tarlov cysts filled poorly and in a delayed fashion.[1,2,16,19]Other meningeal cysts, such as meningeal diverticula, were believed to fill more rapidly. However, these criteria are not reliable, because the extent of dye penetration into a cyst depends on the degree of its communication with the spinal sac, not on the cyst type. For example, we have encountered Tarlov cysts that communicate quite freely with the spinal sac, and filled readily on CT myelography (Fig. 115-9). Such cysts would have been erroneously categorized as non-Tarlov cysts using the more antiquated radiographic criteria.

FIGURE 115-9 A, Side-by-side Tarlov cysts are present on this axial CT myelogram image (arrowheads). One fills with dye but the other does not, demonstrating that CT myelography is unreliable as a diagnostic tool for this pathology. B, Unlike CT, both Tarlov cysts are clearly seen on T2-weighted MRI, the preferred imaging modality.

Despite the fact that meningeal cysts, particularly Tarlov cysts, can be radiographically impressive, a careful search should be conducted to rule out other pathology that might explain the patient’s symptoms. For example, a complete workup of a sacral Tarlov cyst should include not only a sacral MRI but also an MRI and flexion-extension radiographs of the lumbar spine to evaluate for disc herniations, stenosis, spondylolisthesis, metastases, hemorrhages, and other possible pathologies.

Diagnostic Cyst Aspiration
We usually avoid percutaneous procedures involving meningeal cysts due to the risks involved. However, needle aspiration occasionally is used as a diagnostic tool to determine whether a Tarlov cyst is symptomatic. When conducted with appropriate imaging to confirm correct needle placement, aspiration may temporarily decompress a cyst long enough before it refills for a patient to notice a transient improvement in symptoms. This would imply that the aspirated cyst is at least partially responsible for the patient’s symptoms. Such a cyst could then be a target for treatment.

Treatment
Needle Aspiration
Unfortunately, a significant number of patients with symptomatic Tarlov cysts undergo percutaneous needle aspiration procedures as an attempt at treatment, not for diagnosis. Such procedures are ineffective, because aspirated fluid within a Tarlov cyst typically is replaced rapidly with spinal fluid through the proximal nerve root in communication with the spinal sac.[2,7,16] One study that assessed the effectiveness of percutaneous drainage of Tarlov cysts found that four of the five patients in that series suffered a recurrence of symptoms.[8] A separate report in 2001 described patients who underwent percutaneous aspiration of their cysts preoperatively.[7] None of those patients improved, and, in fact, some experienced marked worsening of their symptoms. This deterioration may have been the result of hemorrhage in the cyst wall, or nerve root injury.

In general, the use of aspiration for treatment of a Tarlov cyst is inconsistent with an understanding of the fundamental underlying pathology involved and exposes the patient to the risk of spinal fluid leakage, meningitis, hemorrhage, and nerve root injury. We therefore restrict the use of needle aspiration, using it only as a diagnostic tool in rare situations, as described in the preceding section.

Needle Aspiration and Fibrin Glue Injection
Treatment with percutaneous aspiration followed by fibrin glue injection also has been described. Authors of one report of four patients with symptomatic Tarlov cysts found that percutaneous fibrin glue therapy was effective in alleviating symptoms, although three patients developed postprocedural aseptic meningitis.[23] Blind percutaneous introduction of multiple needles into a Tarlov cyst also increases the probability of causing nerve injury.

In our experience, fibrin glue treatment fails in a large number of patients, and those patients require subsequent surgery. Unfortunately, the introduction of fibrin glue or other substrates into a Tarlov cyst makes subsequent surgical treatment more difficult because it produces scarring or coating. The neural elements within the cyst are then much harder to identify and protect during surgery. We have encountered injured nerve roots intraoperatively in several patients following prior failed fibrin glue treatment (Fig. 115-10). The fibrin glue technique is falling out of favor, both in the United States and abroad, with only a few centers with a significant experience continuing its use.

FIGURE 115-10 This intraoperative photograph reveals damage to the nerve root fibers inside the Tarlov cyst of a patient who underwent attempted treatment with percutaneous needle aspiration and fibrin glue injection. Bruising and posthemorrhagic hemosiderin deposition are seen (arrow). Note that the internal cyst wall has an opaque coating that makes subsequent nerve fiber identification and, therefore, surgery more difficult.

Surgical Treatment
Patient Selection
As with most spinal pathology, the selection of patients for surgical treatment is based on the correlation among symptoms, physical examination, and radiographic findings. Additionally, the size of a Tarlov cyst is an important factor in determining the probability that it is symptomatic. In general, the larger the cyst the more likely it is to produce symptoms. One study found that patients with neurologic deficits that can be radiographically correlated with Tarlov cysts greater than 1.5 cm in diameter enjoyed substantial improvement following surgery.[7] Furthermore, there was a very strong association between the presence of radicular symptoms and excellent outcome.

However, we also have encountered patients with symptomatic cysts smaller than 1.5 cm. The location of a Tarlov cyst and the extent to which it is compressing adjacent neural structures also are important factors, in addition to its size. For example, an intraforaminal Tarlov cyst in the cervical or thoracic spine arising from one spinal nerve ramus can compress the adjacent ramus of the same nerve root and produce symptoms, even though the cyst is small.

Surgery
The treatment of a symptomatic Tarlov cyst must take into account that the cyst is actually a dilated nerve root. Therefore, simple excision usually is not an option, because it can produce a critical deficit, particularly when in the lumbosacral region. This results in a treatment quandary: how does one eliminate a symptomatic Tarlov cyst without injuring the nerve root fibers inside and producing a neurologic deficit?

In the past, surgical treatments such as decompressive laminectomy, cyst fenestration, and complete cyst excision have fallen from favor due to a lack of success and unacceptable complication rates.[2,3,6,24] More recent surgical techniques have targeted the underlying pathology causing nerve root dilation, that is, the process that allows spinal fluid to accumulate within an affected nerve root.

An initial step in this direction was the description of fenestration and imbrication techniques that involve opening a Tarlov cyst.[6] The cyst is then reduced in size, either by imbrication or partial wall excision, thereby reconstituting a more normal caliber nerve root, which no longer compresses adjacent structures. However, such techniques do not prevent the continued flow of spinal fluid into the affected nerve root cyst, so they do not eliminate the risk of cyst reexpansion and spinal fluid leakage. Additionally, nerve fascicles in a Tarlov cyst often are found within the cyst wall itself, or so extensively splayed out over the internal surface of the cyst wall that they are not easily seen, even with the aid of an operating microscope. Cyst wall excision to decrease the overall size of a Tarlov cyst therefore increases the risk of producing deficits due to inadvertent nerve root fiber sectioning.

Current surgical techniques are focused on resolving the quandary of how to prevent spinal fluid flow into a symptomatic Tarlov cyst without injuring its nerve root fibers. To this end, we have focused on treatment of the ostium, where spinal fluid and nerve root fibers enter the cyst. We also have made efforts to confine cysts to prevent further compression of adjacent structures (Fig. 115-11).

FIGURE 115-11 A, Two Tarlov cysts abutting nerve roots in the sacral spinal canal are seen on this preoperative axial T2-weighted MRI (arrows). B, Postoperatively, the treated cysts are identified (arrows), as are the decompressed nerve roots just ventral and lateral to each treated cyst.

Intraoperative electrophysiologic monitoring is an integral component of Tarlov cyst surgery. During the process of exposure and cyst dissection, it aids the surgeon in identifying specific nerve roots and gives feedback on the tolerance of nerves to manipulation. Thus, intraoperative monitoring can be used to assess the status of a Tarlov cyst–involved nerve root throughout the process of cyst treatment, and gives the surgeon a baseline to assess nerve function before and after cyst treatment. For example, the nerve root sleeve proximal to a treated cyst can be stimulated following cyst exploration and treatment to determine whether it is still in continuity and conducting as it was before treatment.

Summary
Tarlov cysts are an important clinical entity in the differential diagnosis of spinal radiculopathy, sacral pain syndromes, and sacral spinal insufficiency fractures, particularly in women. The symptoms they produce can be crippling. Although the relationship remains unclear, elevated CSF pressure and trauma may play a role in their pathogenesis. MRI has enhanced our ability to diagnose symptomatic Tarlov cysts and preoperatively assess their anatomic relationships.

The management of symptomatic Tarlov cysts has progressed significantly in the last decade. Trends in the literature have favored surgical treatment in experienced hands to reduce the risk of nerve root injury and spinal fluid leakage. Treatments with percutaneous needle techniques such as aspiration or fibrin glue injection are falling out of favor due to lack of symptomatic improvement and high cyst refilling rates. In our experience, patients with large cysts and corresponding radicular symptoms are more likely to experience substantial relief from surgery. However, patients with smaller cysts also can benefit if focal nerve root compression is identified on preoperative imaging.

Key References
Acosta F., Quinones-Hinojosa A., Schmidt M.H., et al: Diagnosis and management of sacral Tarlov cysts. AJNR Am J Neurosurg Focus 2003; 15:1-10.
Feigenbaum F., Henderson F.: Surgical management of meningeal cysts, including perineural (Tarlov) cysts and meningeal diverticula. Semin Spine Surg 2006; 18:154-160.
Nabors N.W., Pait T.G., Byrd E.B., et al: Updated assessment and current classification of spinal meningeal cysts. J Neurosurg 1988; 68:366-377.
North R.B., Kidd D.H., Wang H.: Occult, bilateral anterior sacral and intrasacral meningeal and perineural cysts: case report and review of the literature. Neurosurgery 1990; 27:981-986.
Patel M.R., Louie W., Rachlin J.: Percutaneous fibrin glue therapy of meningeal cysts of the sacral spine. AJR Am J Roentgenol 1997; 168:367-370.
Paulsen R.D., Call G.A., Murtagh F.R.: Prevalencce and percutaneous drainage of cysts of the sacral nerve root sheath (Tarlov cysts). AJNR Am J Neuroradiol 1994; 15:293-297.
Strully K., Heiser S.: Lumbar and sacral cysts of meningeal origin. Radiology 1954; 62:544-549.
Tarlov I.M.: Perineurial cysts of the spinal nerve roots. Arch Neurol Psychiatry (Chic) 1938; 40:1067-1074.
Voyadzis J.M., Bhargava P., Henderson F.: Tarlov cysts: a study of 10 cases with review of the literature. J Neurosurg Spine 2001; 95:25-32.
References
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5.. North R.B., Kidd D.H., Wang H.: Occult, bilateral anterior sacral and intrasacral meningeal and perineural cysts: case report and review of the literature. Neurosurgery 1990; 27:981-986.
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8.. Paulsen R.D., Call G.A., Mrutagh F.R.: Prevalence and percutaneous drainage of cysts of the sacral nerve root sheath (Tarlov cysts). AJNR Am J Neuroradiol 1994; 15:293-297.
9.. Tarlov I.M.: Sacral nerve-root cysts: another cause of the sciatic or cauda equina syndrome. Springfield, IL, Charles C. Thomas, 1953. pp 56–116
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17.. Nishiura I., Koyama T., Handa J.: Intrasacral perineurial cyst. Surg Neurol 1985; 23:265-269.
18.. Strully K.: Meningeal diverticula of sacral nerve roots (perineurial cysts). JAMA 1956; 161:1147-1152.
19.. Strully K., Heiser S.: Lumbar and sacral cysts of meningeal origin. Radiology 1954; 62:544-549.
20.. Smith D.T.: Cystic formations associated with human spinal nerve roots. J Neurosurg 1961; 18:654-660.
21.. Boukobza M., Sichez J.P., Rolland E., et al: MRI evaluation of sacral cysts. J Neuroradiol 1993; 20:266-271.
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