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Disease Profile

Tumefactive multiple sclerosis

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

N/A

US Estimated

N/A

Europe Estimated

Age of onset

Adult

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ICD-10

G37.5

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)

Diffuse cerebral sclerosis of Schilder; Concentric demyelination; Balo's concentric sclerosis;

Categories

Nervous System Diseases

Summary

Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor.[1][2] It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness.[1] The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS.[2][3] In other cases there is only one occurrence of the condition.[2] In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.[2][3]

Treatment

To date there have been no controlled treatment studies for tumefactive multiple sclerosis. As a result, treatment decisions are largely based on a doctor's experience and information from single case reports.[3]

In a small number of cases, people with tumefactive multiple sclerosis have minimal to no symptoms. A reasonable approach of care in these cases is to monitor without treatment.[3]

In most cases the size of the lesion and resulting symptoms prompts treatment with corticosteroids. As with other forms of multiple sclerosis, corticosteroids (for example, intravenous methylprednisolone) should be the first line of treatment. If corticosteroids are not effective, plasma exchange is tried. Another second line treatment that has been tried with some success is Rituximab.[3]

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

    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 MS Society offers an overview on tumefactive multiple sclerosis, including information on symptoms and treatment.
    • 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

      • 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 Tumefactive multiple sclerosis. Click on the link to view a sample search on this topic.

        References

        1. Tumefactive Multiple Sclerosis. Cedars-Sinai. 2016; https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx. Accessed 5/18/2016.
        2. Olek MJ. Diagnosis of multiple sclerosis in adults. In: Gonzalez-Scarano F. ed. UpToDate. Waltham, MA: UpToDate; February 22, 2016; Accessed 5/18/2016.
        3. Hardy TA, Chataway J. Tumefactive demyelination: an approach to diagnosis and management. Neurol Neurosurg Psychiatry. 2013; 84:1047. Accessed 5/18/2016.

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