Fever induced refractory epileptic encephalopathy in school age children
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[edit] Definition
Fever induced refractory epileptic encephalopathy in school age children (FIRES) is a devastating condiition which follows a prolonged refractory status epilepticus (SE) triggered by fever of unknown cause. The intractable perisylvian status epilepticus might persist for more than a month and results in severe cognitive impairment. [1]
[edit] History
- Several authors (Lyon 1961[2];Awaya 1998[3];Sahin 2001[4];Baxter 2003[5];Kramer 2005[6];Saito 2007[7]) have reported a presumed post encephalitic catastrophic epileptic encephalopathy resulting in refractory repetitive seizures associated with severe cognitive impairment.
- Mikaeloff et al in 2006[4] described this condition in a retrospective study of normally developing 14 children (mean age 7.5yrs) admitted with prolonged status epilepticus following a nonspecific febrile illness and called it Devastating Epileptic encephalopathy in School-age Children (DESC).
- The current term febrile infection-related epilepsy syndrome (FIRES) was proposed by Van Baalen et al in 2010[8] who published a retrospective multicenter case series of 22 previously healthy children aged 3-15yrs ( largest of the series) who developed prolonged and recurrent refractory seizures occurring 2-14 days (median 5 days) after fever onset
[edit] Pathophysiology
Absence of either encephalitic changes in neuroimaging,marked CSF leukocytosis or inflammatory changes on biopsy suggests that the pathological process is not one of inflammation. The clinical course is charactarised by intractable recurrent/prolonged seizures suggesting neuronal hyperexcitation as the underlying cause.It is possible that the pathogenesis is immune mediated.
[edit] Clinical characteristics
- The condition occurs in previously healthy normally developing children aged 3-15 years.
- Characterised by an acute convulsive status epilepticus following a short febrile episode without any evidence of cns infection or inflammation. The status epilepticus is highly pharmacoresistant and can persist for more than a month
- The seizures are characteristically bilateral perisylvian with propagation to the frontal lobes and are extremely frequent and refractory
- The acute phase is followed by a chronic pharmacoresistant epilepsy associated with severe cognitive impairment mainly involving language, memory and behaviour. There is no latent period between the progression from acute to chronic phase.
[edit] Neurophysiology
EEG shows diffuse slowing or multifocal discharges
[edit] Neuroimaging
- Plain MRI is often normal, although selective bilateral hippocampal abnormalities including atrophy and hypersignal have been reported.
- 18F-FDG PET studies[9] have shown widepsread interictal hypometabolic network including the temporoparietal and orbitofrontal cortices bilaterally. The hypometabolic areas corresponded to the electroclinical seizures involving the temporofrontal cortex bilaterally as well as to the neuropsychologic findings
18F-FDG PET in FIRES
[edit] Neuropsychology
Neuropsychological deficits mainly involve language, frontal functions, behaviour and memory
[edit] Treatment
The condition is characteristically highly refractory to treatment. The efficacy of ketogenic diet as an alternative to pharmacotherapy in FIRES has been reported with favourable outcomes[10][11][4]. A major contraindication to the ketogenic diet during status epilepticus is posisble pyruvate carboxylase and beta oxidation deficiencies. However these conditions are rare and easily diagnosed. There are no randomized controlled trials available on the use of the ketogenic diet in status epilepticus
[edit] References
- ↑ Ismail FY, Kossoff EH (November 2011). "AERRPS, DESC, NORSE, FIRES: multi-labeling or distinct epileptic entities?". Epilepsia 52 (11): e185–9. doi:. PMID 22004046.
- ↑ LYON G, DODGE PR, ADAMS RD (December 1961). "The acute encephalopathies of obscure origin in infants and children". Brain : a Journal of Neurology 84: 680–708. PMID 14467623.
- ↑ Awaya Y,Hayashi K,Osawa M,Fukuyama Y. A peculiar type of postencephalitis epilepty [abstract], Epilepsia. 1998; 39(suppl):S99
- ↑ 4.0 4.1 4.2 Mikaeloff Y, Jambaqué I, Hertz-Pannier L, et al. (April 2006). "Devastating epileptic encephalopathy in school-aged children (DESC): a pseudo encephalitis". Epilepsy Res. 69 (1): 67–79. doi:. PMID 16469483.
- ↑ Baxter P, Clarke A, Cross H, et al. (September 2003). "Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status". Seizure : the Journal of the British Epilepsy Association 12 (6): 379–87. PMID 12915084. http://linkinghub.elsevier.com/retrieve/pii/S1059131102003400.
- ↑ Kramer U, Shorer Z, Ben-Zeev B, Lerman-Sagie T, Goldberg-Stern H, Lahat E (March 2005). "Severe refractory status epilepticus owing to presumed encephalitis". Journal of Child Neurology 20 (3): 184–7. PMID 15832606.
- ↑ Saito Y, Maegaki Y, Okamoto R, Ogura K, Togawa M, Nanba Y, Inoue T, Takahashi Y, Ohno K (April 2007). "Acute encephalitis with refractory, repetitive partial seizures: case reports of this unusual post-encephalitic epilepsy". Brain & Development 29 (3): 147–56. doi:. PMID 17008042.
- ↑ 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:. PMID 20345937.
- ↑ Mazzuca M, Jambaque I, Hertz-Pannier L, Bouilleret V, Archambaud F, Caviness V, Rodrigo S, Dulac O, Chiron C (January 2011). "18F-FDG PET Reveals Frontotemporal Dysfunction in Children with Fever-Induced Refractory Epileptic Encephalopathy". Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine 52 (1): 40–7. doi:. PMID 21149491.
- ↑ Nabbout R, Mazzuca M, Hubert P, Peudennier S, Allaire C, Flurin V, Aberastury M, Silva W, Dulac O (October 2010). "Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)". Epilepsia 51 (10): 2033–7. doi:. PMID 20813015.
- ↑ Villeneuve N, Pinton F, Bahi-Buisson N, Dulac O, Chiron C, Nabbout R (April 2009). "The ketogenic diet improves recently worsened focal epilepsy". Developmental Medicine and Child Neurology 51 (4): 276–81. doi:. PMID 19191829.
