Rare Immunology News

Disease Profile

Rasmussen encephalitis

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

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

RE

Categories

Nervous System Diseases

Summary

Rasmussen encephalitis is a chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It most often occurs in children under the age of 10, although adolescents and adults may also be affected. Rasmussen encephalitis is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. While the cause of Rasmussen encephalitis is unknown, there is evidence that in many patients it is an autoimmune disorder.[1] Immune therapy and surgery may be used for treatment.[2]

Cause

The underlying cause of Rasmussen encephalitis remains unknown. Current evidence suggests that autoimmune processes are responsible for the damage to the brain cells.[1][3] In most patients, the trigger of the abnormal immune response is unclear, although it may follow an otherwise minor bacterial or viral infection or head injury.[2] Rasmussen encephalitis is a sporadic disease. It has not been associated with any particular environments or populations and cannot be caught from others.[3] Research is underway to help better understand the underlying cause.[1][3]

Treatment

Anti-epileptic drugs are usually not effective in controlling the seizures associated with Rasmussen encephalitis. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy (removal of half of the brain) and hemispherotomy (a surgical procedure for hemispheric disconnection), may reduce the frequency of seizures and also improve behavior and cognitive abilities.[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

    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

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • 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 Hemispherectomy Foundation, a 501(c)(3) non-profit organization, was founded to provide emotional, financial, and educational support to individuals and their families who have undergone, or will undergo, a hemispherectomy or similar brain surgery. This organization provides information about Rasmussen encephalitis. Click on the link to view this information.
    • The Encephalitis Society is a UK based charity set up by people affected by encephalitis in 1994. This group provides information about Rasmussen encephalitis. Click on the link to view information related to this topic.

      In-Depth Information

      • PubMed is a searchable database of medical literature and lists journal articles that discuss Rasmussen encephalitis. Click on the link to view a sample search on this topic.

        References

        1. NINDS Rasmussen's Encephalitis Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Rasmussens-Encephalitis-Information-Page. Accessed 3/16/2017.
        2. Ellerington A. Rasmussen Encephalitis. The Encephalitis Society. February 2014; https://www.encephalitis.info/support/information/practical-resources-on-encephalitis/types-of-encephalitis/types-of-autoimmune-encephalitis/rasmussen-s-encephalitis/.
        3. Frequently Asked Questions by Parents of Children with Rasmussen's Encephalitis (RE). RE Children's Project. Janurary 2012; https://rechildrens.org/images/stories/RE_FAQ_Jan_2012.pdf. Accessed 3/22/2012.

        Rare Immunology News