scholarly journals Dramatic Course of Paediatric Cryptogenic Febrile Infection-Related Epilepsy Syndrome with Unusual Chronic Phase Presentation—A Case Report with Literature Study

2021 ◽  
Vol 11 (8) ◽  
pp. 1030
Author(s):  
Natalia Rachfalska ◽  
Jerzy Pietruszewski ◽  
Justyna Paprocka
Keyword(s):  
Acute Phase ◽  
Cognitive Deficit ◽  
Chronic Phase ◽  
Febrile Illness ◽  
Refractory Status Epilepticus ◽  
Epileptic Encephalopathy ◽  
Epilepsy Syndrome ◽  
Literature Study ◽  
School Aged Children ◽  
Refractory Status

Febrile Infection-Related Epilepsy Syndrome (FIRES) is a catastrophic, extremely rare epileptic encephalopathy. It strikes previously healthy school-aged children and is usually cryptogenic. Its dramatic onset with refractory status epilepticus is always preceded by a nonspecific febrile illness. The seizure activity in FIRES may last for several weeks with little to no response to antiepileptic treatment, usually resulting in the usage of anaesthetics. This acute phase is followed by a chronic, refractory epilepsy and cognitive deficit, that persist for the rest of the patient’s life. Still to this day no definite cause has been described. In this study we review the current finding in FIRES and describe a case of a 4-year-old patient with a dramatic course of the acute phase in FIRES and unusual presentation of the chronic phase, which is dominated by extrapyramidal symptoms such as dystonia. This case highlights that the clinical presentation of FIRES may differ from those frequently described in literature.

Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases

2016 ◽  
Vol 32 (1) ◽  
pp. 35-40 ◽  
Author(s):  
Jacqueline S. Gofshteyn ◽  
Angus Wilfong ◽  
Orrin Devinsky ◽  
Judith Bluvstein ◽  
Joshi Charuta ◽  
...  
Keyword(s):  
Antiepileptic Drugs ◽  
Multiorgan Failure ◽  
Case Series ◽  
Chronic Phase ◽  
Febrile Illness ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Open Label ◽  
Normal Children ◽  
Refractory Status

Febrile infection-related epilepsy syndrome (FIRES) is a devastating epilepsy affecting normal children after a febrile illness. FIRES presents with an acute phase with super-refractory status epilepticus and all patients progress to a chronic phase with persistent refractory epilepsy. The typical outcome is severe encephalopathy or death. The authors present 7 children from 5 centers with FIRES who had not responded to antiepileptic drugs or other therapies who were given cannabadiol (Epidiolex, GW Pharma) on emergency or expanded investigational protocols in either the acute or chronic phase of illness. After starting cannabidiol, 6 of 7 patients’ seizures improved in frequency and duration. One patient died due to multiorgan failure secondary to isoflourane. An average of 4 antiepileptic drugs were weaned. Currently 5 subjects are ambulatory, 1 walks with assistance, and 4 are verbal. While this is an open-label case series, the authors add cannabidiol as a possible treatment for FIRES.

scholarly journals FEBRILE INFECTION-RELATED EPILEPSY SYNDROME (FIRES): COMPLICATED DIAGNOSIS AND CASE REPORT

2018 ◽  
Vol 23 (3) ◽  
pp. 142-148
Author(s):  
Armen K. Shakaryan ◽  
A. A. Kholin ◽  
N. V. Turkot ◽  
D. V. Shakhmaeva ◽  
I. V. Mitrofanova
Keyword(s):  
Status Epilepticus ◽  
Febrile Illness ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Healthy Children ◽  
Consciousness Disorders ◽  
Refractory Status ◽  
Autoimmune Pathology ◽  
Initial Symptoms ◽  
The Brain

Febrile infection-related epilepsy syndrome (FIRES) is an acute disease provoked by the nonspecific febrile illness with the development of refractory status epilepticus. It frequently occurs in previously healthy children. The pathogenesis of this syndrome is still unknown. The leading initial symptoms include acute fever, seizures, consciousness disorders and imitate neuroinfection or autoimmune pathology of CNS. These features make diagnosis extremely difficult, and there are in addition some difficulties with the verification of the diagnosis. Interpretation of MRI results allows identifying involved parts of the brain. However, the EEG record pattern is not precise. We report a clinical case of FIRES occurred in a 14-year-old previously healthy boy. The disease began similarly to an acute neuroinfection disease with prolonged refractory status epilepticus

scholarly journals Refractory status epilepticus: Febrile Illness Related Epileptic Syndrome (FIRES)

2015 ◽  
Vol 02 (02) ◽  
pp. 090-093
Author(s):  
Varun Sharma ◽  
Anaita Hegde ◽  
Fazal Nabi
Keyword(s):  
Status Epilepticus ◽  
Recent Literature ◽  
Index Case ◽  
Indian Subcontinent ◽  
Febrile Illness ◽  
Refractory Status Epilepticus ◽  
Epileptic Encephalopathy ◽  
Epileptic Syndrome ◽  
Refractory Status

AbstractIn recent literature, a new entity has emerged, which focuses on a possible non-encephalitic epileptic encephalopathy precipitated by fever in a previously normal child. We report a typical case of Febrile illness related epileptic syndrome (FIRES) from Indian subcontinent. The index case presented with fever and multiple seizures, which progressed to status epilepticus and encephalopathy. All infectious, metabolic and autoimmune markers were negative. Convulsions were refractory to all possible treatment except thiopentone which achieved burst suppression pattern. Breakthrough seizures were prevented by using lacosamide and ketogenic diet along with multiple anticonvulsants. At 1-year follow-up, patient had a relatively good neurological outcome, however has persistent refractory epilepsy.

scholarly journals FEBRILE INFECTION-RELATED EPILEPSY SYNDROME (FIRES): COMPLICATED DIAGNOSIS AND CASE REPORT

2018 ◽  
Vol 23 (3) ◽  
pp. 142-148
Author(s):  
Armen K. Shakaryan ◽  
A. A. Kholin ◽  
N. V. Turkot ◽  
D. V. Shakhmaeva ◽  
I. V. Mitrofanova
Keyword(s):  
Status Epilepticus ◽  
Febrile Illness ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Healthy Children ◽  
Consciousness Disorders ◽  
Refractory Status ◽  
Autoimmune Pathology ◽  
Initial Symptoms ◽  
The Brain

Febrile infection-related epilepsy syndrome (FIRES) is an acute disease provoked by the nonspecific febrile illness with the development of refractory status epilepticus. It frequently occurs in previously healthy children. The pathogenesis of this syndrome is still unknown. The leading initial symptoms include acute fever, seizures, consciousness disorders and imitate neuroinfection or autoimmune pathology of CNS. These features make diagnosis extremely difficult, and there are in addition some difficulties with the verification of the diagnosis. Interpretation of MRI results allows identifying involved parts of the brain. However, the EEG record pattern is not precise. We report a clinical case of FIRES occurred in a 14-year-old previously healthy boy. The disease began similarly to an acute neuroinfection disease with prolonged refractory status epilepticus

Febrile Infection-Related Epilepsy Syndrome (FIRES) with Multifocal Subcortical Infarcts, A New Imaging Phenotype

2018 ◽  
Vol 49 (05) ◽  
pp. 347-352 ◽  
Author(s):  
Ai Tan
Keyword(s):  
Treatment Plan ◽  
Febrile Illness ◽  
Epileptic Encephalopathy ◽  
Unknown Etiology ◽  
Epilepsy Syndrome ◽  
Clinical Criteria ◽  
School Aged Children ◽  
Appropriate Treatment ◽  
Confirmatory Tests ◽  
Occipital Lobes

AbstractFebrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic encephalopathy of unknown etiology which occurs predominantly in school-aged children, following a febrile illness. The term FIRES was first proposed in 2010 by van Baalen et al. The etiology of FIRES remains elusive, although most believed that it is likely related to inappropriate activation of the innate immune system. It is often a diagnosis of exclusion as it lacks specific clinical criteria and/or confirmatory tests. Familiarity with the range of imaging phenotypes associated with FIRES is crucial as this will assist timely recognition and institution of appropriate treatment plan. With this in mind, the author would like to present a rare case of FIRES with extensive subcortical infarcts, predominantly in the temporo-occipital lobes. This has never been reported before and may represent a new imaging phenotype of FIRES. A detailed literature review, focusing on the various pattern of imaging phenotypes, in relation to patients' age and clinical outcome, will also be included.

scholarly journals How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries

2021 ◽  
pp. 153575972199832
Author(s):  
Karnig Kazazian ◽  
Marissa Kellogg ◽  
Nora Wong ◽  
Krista Eschbach ◽  
Raquel Farias Moeller ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Neurologic Disorder ◽  
Mortality And Morbidity ◽  
Refractory Status ◽  
Rigorous Research ◽  
Active Epilepsy ◽  
New Onset

New-onset refractory status epilepticus (NORSE) is a rare clinical presentation of refractory status epilepticus (RSE) that occurs in people without active epilepsy or preexisting neurologic disorder. Febrile infection-related epilepsy syndrome (FIRES) is a subcategory of NORSE. New-onset refractory status epilepticus/FIRES are becoming increasingly recognized; however, information pertaining to disease course, clinical outcomes, and survivorship remains limited, and mortality and morbidity are variable, but often high. The objective of the NORSE/FIRES Family Registry is to (1) provide an easily accessible and internationally available multilingual registry into which survivors or NORSE/FIRES surrogates or family members of people affected by NORSE/FIRES or their physicians can enter data in a systematic and rigorous research study from anywhere in the world where internet is available; and (2) to examine past medical history, outcomes, and quality of life for people affected by NORSE/FIRES.

A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy

2019 ◽  
Vol 50 (03) ◽  
pp. 197-201
Author(s):  
S. Schmid ◽  
M. Wagner ◽  
C. Goetz ◽  
C. Makowski ◽  
P. Freisinger ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Missense Mutation ◽  
De Novo ◽  
Mitochondrial Fission ◽  
Refractory Status Epilepticus ◽  
Sudden Onset ◽  
Epileptic Encephalopathy ◽  
Neurologic Outcome ◽  
Dominant Negative Mutation ◽  
Refractory Status

AbstractMitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.

New onset refractory status epilepticus research

Neurology ◽  
2019 ◽  
Vol 92 (17) ◽  
pp. 802-810 ◽  
Author(s):  
Teneille E. Gofton ◽  
Nicolas Gaspard ◽  
Sara E. Hocker ◽  
Tobias Loddenkemper ◽  
Lawrence J. Hirsch
Keyword(s):  
Status Epilepticus ◽  
Professional Education ◽  
Age Groups ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Current State ◽  
Refractory Status ◽  
Management Approaches ◽  
Active Epilepsy ◽  
New Onset

New-onset refractory status epilepticus (NORSE) is a clinical presentation, not a specific diagnosis, in a patient without active epilepsy or other preexisting relevant neurologic disorder, with new onset of refractory status epilepticus (RSE) that does not resolve after 2 or more rescue medications, without a clear acute or active structural, toxic, or metabolic cause. Febrile infection-related epilepsy syndrome is a subset of NORSE in which fever began at least 24 hours prior to the RSE. Both terms apply to all age groups. Until recently, NORSE was a poorly recognized entity without a consistent definition or approach to care. We review the current state of knowledge in NORSE and propose a roadmap for future collaborative research. Research investigating NORSE should prioritize the following 4 domains: (1) clinical features, etiology, and pathophysiology; (2) treatment; (3) adult and pediatric evaluation and management approaches; and (4) public advocacy, professional education, and family support. We consider international collaboration and multicenter research crucial in achieving these goals.

scholarly journals Dietary Management of Children With Super-Refractory Status Epilepticus: A Systematic Review and Experience in a Single UK Tertiary Centre

2021 ◽  
Vol 12 ◽  
Author(s):  
Natasha E. Schoeler ◽  
Zoe Simpson ◽  
Runming Zhou ◽  
Suresh Pujar ◽  
Christin Eltze ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Side Effects ◽  
Treatment Option ◽  
Causal Effect ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Drug Resistant ◽  
Street Hospital ◽  
Adverse Side Effects ◽  
Refractory Status

Ketogenic diet therapies (KDT) are high-fat, low carbohydrate diets used as an effective treatment option for drug-resistant epilepsy. There is limited research on the efficacy of KDT for super-refractory status epilepticus (SRSE). We systematically review evidence for use of KDT in children with SRSE and present a single UK tertiary centre's experience. Thirty one articles were included, of which 24 were “medium” or “low” quality. One hundred and forty seven children with SRSE started KDT, of which 141 (96%) achieved ketosis. KDT was started mean 5.3 days (range 1–420) after status epilepticus (SE) started. SRSE resolved in 85/141 (60%) children after mean 6.3 days (range 0–19) post SE onset, but it is unclear whether further treatments were initiated post-KDT. 13/141 (9%) children died. Response to KDT was more likely when initiated earlier (p = 0.03) and in females (p = 0.01). Adverse side effects were reported in 48/141 (34%), mostly gastrointestinal; potentially serious adverse effects occurred in ≤4%. Eight children with SRSE, all diagnosed with febrile infection-related epilepsy syndrome, were treated with KDT at Great Ormond Street Hospital for Children. KDT was initiated enterally at mean day 13.6+/− 5.1 of admission. Seven of 8 (88%) children reported adverse side effects, which were potentially serious in 4/8 (50%), including metabolic acidosis, hypoglycaemia and raised amylase. SE ceased in 6/8 (75%) children after mean 25+/− 9.4 days post onset, but other treatments were often started concomitantly and all children started other treatments post-KDT. Two of 8 (25%) children died during admission and another died post-admission. Four of the remaining 5 children continue to have drug-resistant seizures, one of whom remains on KDT; seizure burden was unknown for one child. Our findings indicate that KDT is possible and safe in children with SRSE. Cessation of SRSE may occur in almost two-thirds of children initiated with KDT, but a causal effect is difficult to determine due to concomitant treatments, treatments started post-KDT and the variable length of time post-KDT onset when SRSE cessation occurs. Given that serious adverse side effects seem rare and response rates are (cautiously) favorable, KDT should be considered as an early treatment option in this group.

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