Febrile infection-related epilepsy syndrome

Febrile infection-related epilepsy syndrome (FIRES) is an epilepsy syndrome in which new-onset refractory status epilepticus (NORSE) is preceded by febrile illness 24 hours to 2 weeks prior to the onset of seizures. The term was previously used for a paediatric syndrome but was redefined to include all ages.[1]

Febrile infection-related epilepsy syndrome
Other namesAcute encephalitis with refractory, repetitive partial seizures (AERRPS), new-onset refractory status epilepticus (NORSE), devastating epilepsy in school-aged children (DESC).
SymptomsPrior febrile illness with or without upper respiratory tract infection and/or gastroenteritis. Convulsive seizures within two weeks of fever.
ComplicationsSevere intractable epilepsy, status epilepticus
Usual onsetAges 3-15
DurationAcute phase lasts 1-12 weeks. Chronic phase is lifelong pharmacoresistent epilepsy and intellectual disability.
CausesUnknown, preceded by unspecified febrile illness
PrognosisPoor, 82% of patients experience some level of permanent intellectual disability ranging from mild to vegetative state.
Frequency1 in 1,000,000
Deaths30% mortality rate

FIRES was previously to refer to this syndrome in children aged three to fifteen years old. A healthy child that may have been ill in the last few days or with a lingering fever goes into a state of continuous seizures. The seizures are resistant to seizure medications and treatments, though barbiturates may be administered.[2] Medical diagnostic tests may initially return no clear diagnosis and may not detect any obvious swelling on the brain. The syndrome is very rare: it may only affect 1 in 1,000,000 children.[3]

Signs and symptoms

FIRES starts with a febrile illness up to two weeks before seizure onset. These seizures damage the frontal lobe's cognitive brain function such as memory and sensory abilities. This can result in learning disabilities,[2] behavioral disorders, memory issues, sensory changes, and possibly death. Children continue to have seizures throughout their lives.

EEG Findings

EEG findings suggest FIRES is a focal process with focal onset seizures. In a 2011 study of 77 FIRES patients, 58 had focal seizures. Of the 58, 50 had secondarily generalizing seizures (seizures that evolve from focal to generalized).[2][4] On a 10-20 scalp electrode EEG, the ictal activity commonly begins temporally and spreads hemispherically and/or bilaterally.[5] Interictally, patients may have slowing that may be considered an encephalopathic pattern.[6] A recent study of 12 FIRES patients demonstrated diffuse delta-theta background slowing interictally in all 12 cases.[7]

Cause

The cause of FIRES is not known.[8] There are some common clinical symptoms, such as onset after a nonspecific febrile illness, gastrointestinal illness, or upper respiratory infection. This prior illness is often cleared 1–14 days prior to the patient's first seizures. There are theories of an immunological source, a genetic predisposition, and an inflammation-mediated process, but the definite cause is unknown. It is more common in boys more than girls.[9][10]

Diagnosis

FIRES is difficult to diagnose due to its rarity and lack of definitive biomarker. It is often diagnosed by ruling out other options such as infectious, toxic, metabolic, and genetic causes. FIRES will consist of two phases - acute and chronic. The acute phase consists of highly recurrent focal seizures, rapidly evolving into refractory status epilepticus. The chronic phase consists of drug-resistant epilepsy with cognitive impairment.

Treatment

History

FIRES was named in 2008 by Dr. Andreas van Baalen and colleagues.[15] Previous names include AERRPS (acute encephalitis with refractory, repetitive partial seizures), DESC (Devastating Epilepsy in School-aged Children),[16] and NORSE (New-Onset Refractory Status Epilepticus).[16]

References
  1. Hirsch, LU; Gaspard, N; van Baalen, A; Nabbout, R; Demeret, S; Loddenkemper, T; Navarro, N; Specchio, N; Lagae, L; Rossetti, A; Hocker, S; Gofton, TE; Abend, NS; Gilmore, EJ; Hahn, C; Khosravani, H; Rosenow, F; Trinka, E (April 2018). "Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions". Epilepsia. 59 (4): 739–744. doi:10.1111/epi.14016. PMID 29399791.
  2. Kramer, U; Chi, CS; Lin, KL; Specchio, N; Sahin, M; Olson, H; Nabbout, R; Kluger, G; Lin, JJ; van Baalen, A (November 2011). "Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children". Epilepsia. 52 (11): 1956–65. doi:10.1111/j.1528-1167.2011.03250.x. PMID 21883180.
  3. van Baalen, A; Häusler, M; Plecko-Startinig, B; Strautmanis, J; Vlaho, S; Gebhardt, B; Rohr, A; Abicht, A; Kluger, G; Stephani, U; Probst, C; Vincent, A; Bien, CG (August 2012). "Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES". Neuropediatrics. 43 (4): 209–16. doi:10.1055/s-0032-1323848. PMID 22911482.
  4. Fox, Kristy; Wells, Mary Ellen; Tennison, Michael; Vaughn, Bradley (July 11, 2017). "Febrile Infection-Related Epilepsy Syndrome (FIRES): A Literature Review and Case Study". The Neurodiagnostic Journal. 57: 224–233.
  5. Howell, KB; Katanyuwong, K; Mackay, MT; Bailey, CA; Scheffer, IE; Freeman, JL; Berkovic, SF; Harvey, A (2012). "Long-term follow-up of febrile infection-related epilepsy syndrome". Epilepsia. 53: 101–110.
  6. Nabbout, R; Vezzani, A; Dulac, O; Chiron, C (2011). "Acute encephalopathy with inflammation-mediated status epilepticus". Lancet Neurol. 10: 99–108.
  7. Carabello, RH; Reyes, G; Avaria, MF; Buompadre, MC; Gonzalez, M; Fortini, S; Cersosimo, R (2013). "Febrile infection related epilepsy syndrome: a study of 12 patients". Seizure. 22: 553–559.
  8. "FEBRILE INFECTION RELATED EPILEPSY". www.epilepsydiagnosis.org. Retrieved 7 October 2014.
  9. Appenzeller, S; Helbig, I; Stephani, U; Haeusler, M; Kluger, G; Bungeroth, M; Müller, S; Kuhlenbäumer, G; Van Baalen, A (2012). "Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations". Dev Med Child Neurol 2012. 54: 1144–1148.
  10. van Baalen, A; Häusler, M; Boor, R; Rohr, A; Sperner, J; Kurlemann, G; Panzer, A; Stephani, U; Kluger, G (2010). "Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood". Epilepsia 2010. 51: 1323–1328.
  11. Mikaeloff, Y; Jambaqué, I; Hertz-Pannier, L; Zamfirescu, A; Adamsbaum, C; Pluin, P; Dulac, O; Chiron, C (2006). "Devastating epileptic encephalopathy in school-aged children (DESC): a pseudo encephalitis". Epilepsy Res. 69: 67–79.
  12. Nabbout, R; Mazzuca, M; Hubert, P; Peudennier, S; Allaire, C; Flurin, V; Aberastury, M; Silva, W; Dulac, O (2010). "Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)". Epilepsia 2010. 51: 2033–2037.
  13. Gall, C.R.E., Jumma, O. & Mohanraj, R. 2013, "Five cases of new onset refractory status epilepticus (NORSE) syndrome: Outcomes with early immunotherapy", Seizure, vol. 22, no. 3, pp. 217-220
  14. Pranzatelli, M.R. & Nadi, N.S. 1995, "Mechanism of action of antiepileptic and antimyoclonic drugs.", Advances in Neurology, vol. 67, pp. 329-360.
  15. van Baalen, A; Häusler, M; Boor, R; Rohr, A; Sperner, J; Kurlemann, G; Panzer, A; Stephani, U; Kluger, G (July 2010). "Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood". Epilepsia. 51 (7): 1323–8. doi:10.1111/j.1528-1167.2010.02535.x. PMID 20345937.
  16. Simon Shorvon and Monica Ferlisi (2011-09-13). "The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol". Brain. Brain.oxfordjournals.org. 134 (Pt 10): 2802–2818. doi:10.1093/brain/awr215. PMID 21914716.
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