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Disease Profile

Tolosa Hunt syndrome

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

All ages

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ICD-10

H49.8

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)

THS; Painful ophthalmoplegia; Nonspecific inflammation of the cavernous sinus or superior orbital fissure;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Tolosa Hunt syndrome (THS) is a rare condition characterized by painful ophthalmoplegia (paralysis and/or weakness of the eye muscles). Onset can occur at any age.[1] Signs and symptoms include a constant pain behind the eye; decreased eye movements; and signs of cranial nerve paralysis such as drooping of the upper eyelid (ptosis), double vision (diplopia), large pupil, and facial numbness.[1][2] Although it is considered a benign condition, permanent neurologic deficits can occur and relapses are common. The features of THS are caused by inflammation of the cavernous sinus (an area at the base of the brain) but the underlying cause of the inflammation is unknown. Left untreated, symptoms may resolve spontaneously after an average of about eight weeks. Treatment may include use of glucocorticoids or other immunosuppressive therapies.[1]

Treatment

Left untreated, symptoms may resolve spontaneously after an average of about eight weeks. Glucocorticoids have long been the recommended treatment for Tolosa Hunt syndrome. Little consideration has been given to alternative therapies, probably due to the typical rapid response to glucocorticoids (pain usually resolves within 24 to 72 hours after starting treatment). However, there are little data other than case series to determine the most effective dose, the route and schedule of administration, or the length of therapy. Furthermore, while it is known that glucocorticoids relieve the pain associated with the condition, there is no definitive evidence that associated cranial neuropathies recover any faster with or without treatment.[1] A few affected individuals may need other immunosuppressive medications either to limit the complications of corticosteroid use or to keep the disorder in remission. These individuals typically undergo a biopsy to confirm the diagnosis of THS.[1]

Close follow-up with repeat MRI is typically recommended to confirm glucocorticoid treatment remains effective and no evidence of another cause for the symptoms develops. Improvement seen on MRI is often not seen until several weeks after signs and symptoms improve.[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

    Organizations Providing General Support

      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 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.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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 Tolosa Hunt syndrome. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Kenneth S Shindler. Tolosa-Hunt syndrome. UpToDate. Waltham, MA: UpToDate.com; February 2013;
            2. Tolosa Hunt Syndrome. NORD. March 30, 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/399/viewAbstract. Accessed 3/25/2013.

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