Febrile infection-related epilepsy syndrome

Title

Other Names:

FIRES; Acute encephalitis with refractory repetitive partial seizures; AERRPS; FIRES; Acute encephalitis with refractory repetitive partial seizures; AERRPS; Acute non-herpetic encephalitis with severe refractory status epilepticus; Devastating epileptic encephalopathy in school-aged children; DESC syndrome; Fever-induced refractory epileptic encephalopathy in school-aged children; Idiopathic catastrophic epileptic encephalopathy; Severe refractory status epilepticus owing to presumed encephalitis; Status epilepticus owing to presumed encephalitis; Febrile infection-related epilepsy syndrome See More

Categories:

Nervous System Diseases

Summary Summary

Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in previously healthy children after a fever. This syndrome causes a very sudden (acute) onset of nearly continuous seizures (status epilepticus) which do not respond to seizure medications (medications to stop seizures). When seizures cannot be controlled by medication, they are called refractory seizures or refractory epilepsy. Sadly many children with FIRES do not live past the acute phase.^[1]^[2]^[3]

The acute phase of FIRES is followed by a chronic phase in which the number of seizures decreases, developing into chronic, refractory focal epilepsy. The seizures continue to be hard to control with medications. During the chronic phase, memory and intellectual ability often decline. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. FIRES affects children between the ages of 3-15 years old. Although seizure medications are not able to completely control the epilepsy, some children do respond to a ketogenic diet, especially if begun early after the initial acute phase. Therapies such as behavioral, physical and occupational therapy as well as other treatments may be recommended depending on the symptoms which develop during the chronic phase.^[1]^[2]^[3] There have been rare cases of FIRES in which the children have fully recovered.^[1]^[4]

Last updated: 11/21/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Developmental regression	Very frequent (present in 80%-99% of cases)
EEG abnormality	Very frequent (present in 80%-99% of cases)
Focal seizures	Very frequent (present in 80%-99% of cases)
Lethargy	Very frequent (present in 80%-99% of cases)
Behavioral abnormality	Frequent (present in 30%-79% of cases)
Cough	Frequent (present in 30%-79% of cases)
Fever	Frequent (present in 30%-79% of cases)
Headache	Frequent (present in 30%-79% of cases)
Myalgia	Frequent (present in 30%-79% of cases)
Sinusitis	Frequent (present in 30%-79% of cases)
Autoimmunity	Occasional (present in 5%-29% of cases)
Sudden death	Occasional (present in 5%-29% of cases)

Last updated: 9/1/2017

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations 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

Association Paratonnerre
16 Rue Masaryk
69009 Lyon
France
Telephone: +33 (0)6 60 65 00 91
E-mail: associationparatonnerre@yahoo.fr
Website: http://associationparatonnerre.org/
Intractable Childhood Epilepsy Alliance ((ICE))
PO Box 365
6360 Shallowford Road
Lewisville, NC 27023
E-mail: http://www.ice-epilepsy.org/contact.html
Website: http://www.ice-epilepsy.org/

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Learn More 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.

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 Febrile infection-related epilepsy syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

Related Diseases Related Diseases

The following diseases are related to Febrile infection-related epilepsy syndrome. If you have a question about any of these diseases, you can contact GARD.

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References References

Van Baalen A. Febrile infection-related epilepsy syndrome. Orphanet. July 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703.
Gofshteyn JS, Wilfong A, Devinsky O, Bluvstein J, Charuta J, Ciliberto MA, Laux L, and Marsh ED. Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases. J Child Neurol. September 21 2016; Epub ahead of print:https://www.ncbi.nlm.nih.gov/pubmed/27655472.
Appavu B, Vanatta L, Condie J, Kerrigan JF, and Jarrar R. Ketogenic diet treatment for pediatric super-refractory status epilepticus. Seizure. October 2016; 41:62-65. https://www.ncbi.nlm.nih.gov/pubmed/27475280.
Kenney-Jung DL, Vezzani A, Kahoud RJ, LaFrance-Corey RG, Ho ML, Muskardin TW, Wirrell EC, Howe CL, and Payne ET. Febrile infection-related epilepsy syndrome treated with anakinra. Ann Neurol. October 22 2016; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/27770579.