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

Subtypes:

NORSE

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

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
EEG abnormality		0002353
Focal seizures		0007359
Lethargy		0001254
30%-79% of people have these symptoms
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Cough	Coughing	0012735
Fever		0001945
Headache	Headaches	0002315
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Sinusitis	Sinus inflammation	0000246
5%-29% of people have these symptoms
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Sudden death		0001699

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/2/2018

Do you have updated information on this disease? We want to hear from you.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Dravet syndrome, Alpers syndrome, female restricted epilepsy with intellectual disability (due to PCDH19 mutations), infectious or limbic encephalitis (e.g., with VGKC antibodies or NMDA receptor antibodies) and metabolic diseases (e.g., biotin-responsive basal ganglia disease, citrullinemia) (see these terms). Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnoses include Dravet syndrome, Alpers syndrome, female restricted epilepsy with intellectual disability (due to PCDH19 mutations), infectious or limbic encephalitis (e.g., with VGKC antibodies or NMDA receptor antibodies) and metabolic diseases (e.g., biotin-responsive basal ganglia disease, citrullinemia) (see these terms).

Visit the Orphanet disease page for more information.

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/
Epilepsy Action
New Anstey House Gate Way Drive
Yeadon, LEEDS LS19 7XY
United Kingdom
Telephone: 0113 210 8800 (UK) or +44 (0)113 210 8800 (international)
Fax: 0113 391 0300 (UK) or +44 (0)113 391 0300 (international)
E-mail: epilepsy@epilepsy.org.uk
Website: https://www.epilepsy.org.uk/
Epilepsy Foundation
8301 Professional Place East
Suite 200
Landover, MD 20785
Toll-free: 800-EFA-1000 (800-332-1000)
Telephone: 301-459-3700
Fax: 301-577-2684
E-mail: contactus@efa.org
Website: http://www.epilepsy.com

Do you know of an organization? We want to hear from you.

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.

Where to Start

The Kennedy Krieger Institute has a fact sheet about Febrile infection-related epilepsy syndrome.
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 Febrile infection-related epilepsy syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

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.