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Disease Profile

Tarlov cysts

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

G54.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Sacral Tarlov cysts; Sacral perineural cysts; Tarlov cyst;

Categories

Nervous System Diseases

Summary

Tarlov cysts are fluid-filled sacs that are usually found at the bottom of the spine (the sacrum). They grow in the roots of the nerves that grow out of the spinal cord. Most of the time, Tarlov cysts don't cause symptoms. When symptoms occur, they may include pain in the lower back, buttocks, or stomach. Other symptoms may include muscle weakness, numbness, loss of bladder or bowel control, or sexual dysfunction. Without treatment, Tarlov cysts may cause permanent nerve damage. The cause of Tarlov cysts is unknown. They may occur because of a buildup of cerebral spinal fluid (CSF) that occurs after trauma, surgery, or a small abnormality in spine development. Diagnosis of a Tarlov cyst is made based on the symptoms and through imaging studies such as an MRI and/or CT myelogram. Treatment depends on the symptoms and size of the cyst(s). There are both surgical and non-surgical treatment options.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with Tarlov cysts. These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described with this condition.

Most Tarlov cysts do not cause symptoms. When symptoms do occur, they may include:[2][3][4]

  • Lower back or buttocks pain
  • Stomach or pelvic pain
  • Changes in sensation like numbness and weakness (sciatica)
  • Bowel and bladder control problems
  • Impotence (sexual dysfunction)

People may have more than one Tarlov cyst. Overtime, cysts may get bigger. In general, larger cysts have been associated with more symptoms. Without treatment, over time, Tarlov cysts can cause permanent nerve damage.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal sacrum morphology
0005107
Neoplasm of the nervous system
Tumor of the nervous system
0004375
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Headache
Headaches
0002315
Osteolysis
Breakdown of bone
0002797
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
5%-29% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Bowel incontinence
Loss of bowel control
0002607
Impaired tactile sensation
Impaired touch sensation
0010830
Impotence
Difficulty getting a full erection
Difficulty getting an erection

[ more ]

0000802
Muscle weakness
Muscular weakness
0001324
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
Urinary bladder sphincter dysfunction
0002839

Cause

The exact cause of Tarlov cysts in unknown. It may be due to an abnormal buildup of cerebral spinal fluid (CSF) around the spine due to trauma, surgery, or a difference in spine development that occurred before birth.[2][3]

Diagnosis

Tarlov cysts are diagnosed based on the symptoms, clinical exam, and imaging studies such as an ultrasound, MRI, CT scan or myelography. Other more common conditions may need to be excluded before a diagnosis of Tarlov cysts can be made.[2][4]

Treatment

There is no standard treatment for Tarlov cysts. Treament options may depend on the location and size of the cyst. Some options include surgery to remove the cyst, draining and sealing the cyst, and rest. Medications may help with the pain.[5][6]

Specialists involved in the care of someone with a Tarlov cyst include:[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The American Association of Neurological Surgeons (AANS) has an information page about Tarlov cysts. The AANS is a scientific and educational association dedicated to advancing the specialty of neurological surgery.
      • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
      • The Tarlov Cyst Disease Foundation has an information page on this topic. The Tarlov Cyst Disease Foundation is a volunteer-based, 501(c)(3) non-profit foundation dedicated to the research, improved diagnosis, advocacy for patients, and development of successful treatments and outcomes for symptomatic Tarlov cysts. Click on the link above to view the information page.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Tarlov cysts. Click on the link to view a sample search on this topic.

          References

          1. Weinstein PR. Tarlov Cysts. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/tarlov-cysts/.
          2. Elkins N, Hunt J, Scott KM. Neurogenic Pelvic Pain. Phys Med Rehabil Clin N Am. 2017; 28(3):551-569. https://pubmed.ncbi.nlm.nih.gov/28676364.
          3. Wang B, Pu F, Wu Q, Zhang Z, Shao Z. Presacral Tarlov Cyst as an Unusual Cause of Abdominal Pain: New Case and Literature Review. World Neurosurg. 2018; 110:79-84. https://pubmed.ncbi.nlm.nih.gov/29102753.
          4. Andrieux C, Poglia P, Laudato P. Tarlov Cyst: A diagnostic of exclusion. Int J Surg Case Rep. 2017; 39:25-28. https://pubmed.ncbi.nlm.nih.gov/28787671.
          5. Dowsett LE, Clement F, Coward S, et al. Effectiveness of Surgical Treatment for Tarlov Cysts: A Systematic Review of Published Literature. Clin Spine Surg. 2018. 2018; 31(9):377-384. https://pubmed.ncbi.nlm.nih.gov/28902742.
          6. Fletcher-Sandersjöö A, Mirza S, Burström G, et al. Management of perineural (Tarlov) cysts: a population-based cohort study and algorithm for the selection of surgical candidates. Acta Neurochir (Wien). 2019; 161(9):1909-1915. https://pubmed.ncbi.nlm.nih.gov/31270612.

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