What are the other Names for this Condition? (Also known as/Synonyms)

• Acute Encephalitis with Refractory Repetitive Partial Seizures (AERRPS)
• Devastating Epileptic Encephalopathy in School-Aged Children
• Severe Refractory Status Epilepticus owing to Presumed Encephalitis

What is Febrile Infection-Related Epilepsy Syndrome? (Definition/Background Information)

• 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
• 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 Febrile Infection-Related Epilepsy Syndrome is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism
• 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
• There have been rare cases of Febrile Infection-Related Epilepsy Syndrome in which the children have fully recovered

(Source: Febrile Infection-Related Epilepsy Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Febrile Infection-Related Epilepsy Syndrome? (Age and Sex Distribution)

• Febrile Infection-Related Epilepsy Syndrome is a rare disorder, affecting approximately 1-10 individuals in a population of 100,000
• Children between the ages of 1 and 17 years may be affected by FIRES; those between ages 5 and 12 years are affected the most
• Although both genders are suscpetible to FIRES, the prevalence is marginally higher in boys
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Febrile Infection-Related Epilepsy Syndrome? (Predisposing Factors)

• A fever in an otherwise healthy child is reportedly a risk factor for Febrile Infection-Related Epilepsy Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Febrile Infection-Related Epilepsy Syndrome? (Etiology)

The cause of Febrile Infection-Related Epilepsy Syndrome is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism.

(Source: Febrile Infection-Related Epilepsy Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

What are the Signs and Symptoms of Febrile Infection-Related Epilepsy Syndrome?

The signs and symptoms of Febrile Infection-Related Epilepsy Syndrome may vary among affected individuals in type and severity. Based on the frequency of symptoms observed, the following information may be noted:

• Autoimmunity
• Behavioral abnormality
• Cough
• EEG abnormality
• Fever
• Focal seizures
• Headache
• Lethargy
• Myalgia
• Sinusitis

(Source: Febrile Infection-Related Epilepsy Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Febrile Infection-Related Epilepsy Syndrome Diagnosed?

Febrile Infection-Related Epilepsy Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Febrile Infection-Related Epilepsy Syndrome?

The complications of Febrile Infection-Related Epilepsy Syndrome may include:

• Progression from acute to chronic FIRES
• Risk of falls and injury due to siezures
• Problems with memory
• Reduced intellectual acuity
• Problems with movement
• Behavioral changes and problems

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Febrile Infection-Related Epilepsy Syndrome Treated?

There is no cure for Febrile Infection-Related Epilepsy Syndrome. The treatment is usually given to manage the signs and symptoms and any complication that develops. Such treatments may include:

• Anti-convulsant medication (IV form of these medications may be preferred)
• Induction of pharmacological coma using an anesthetic (burst-suppression coma or BSC)
• Therapeutic hypothermia
• Adherence to a ketogenic diet (high fat, low carbohydrate diet)
• Physical therapy
• Behavioral and/or occupational therapy, as needed

How can Febrile Infection-Related Epilepsy Syndrome be Prevented?

• The cause of Febrile Infection-Related Epilepsy Syndrome is not known, and hence, there are no methods or guidelines available to prevent this disorder
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Febrile Infection-Related Epilepsy Syndrome? (Outcomes/Resolutions)

• The prognosis of Febrile Infection-Related Epilepsy Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• In many cases, affected children succumb to the condition during the acute phase of FIRES
• Most children who survive the acute phase are reported to exhibit various physical and intellectual abnormalities
• In very rare cases, a complete recovery from the condition has been reported

Additional and Relevant Useful Information for Febrile Infection-Related Epilepsy Syndrome:

Febrile Infection-Related Epilepsy Syndrome may be also known by the following terms:

• Acute Non-Herpetic Encephalitis with Severe Refractory Status Epilepticus
• DESC Syndrome
• Fever-Induced Refractory Epileptic Encephalopathy in School-Aged Children
• Idiopathic Catastrophic Epileptic Encephalopathy
• Status Epilepticus owing to Presumed Encephalitis

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/