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Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies
Acute encephalitis and febrile infection-related epilepsy syndrome (FIRES) are debilitating neurological disorders. It is increasingly accepted that FIRES should be considered an autoinflammation-mediated epileptic encephalopathy, but the debate about its etiopathogenesis is still very much open. De...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393788/ https://www.ncbi.nlm.nih.gov/pubmed/36003492 http://dx.doi.org/10.3389/fped.2022.908518 |
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author | Basso, Martina Gastaldi, Matteo Leonardi, Valeria Izzo, Giana Olivotto, Sara Ferrario, Stefania Veggiotti, Pierangelo Franciotta, Diego Bova, Stefania M. |
author_facet | Basso, Martina Gastaldi, Matteo Leonardi, Valeria Izzo, Giana Olivotto, Sara Ferrario, Stefania Veggiotti, Pierangelo Franciotta, Diego Bova, Stefania M. |
author_sort | Basso, Martina |
collection | PubMed |
description | Acute encephalitis and febrile infection-related epilepsy syndrome (FIRES) are debilitating neurological disorders. It is increasingly accepted that FIRES should be considered an autoinflammation-mediated epileptic encephalopathy, but the debate about its etiopathogenesis is still very much open. Despite showing a considerable overlap with encephalitis, it continues to be regarded as a distinct entity. We describe the case of a previously healthy 5-year-old child who, following a fever, developed acute encephalopathy, status epilepticus, neurological, neuropsychological, and psychiatric manifestations, and claustrum involvement on MRI. At symptom onset, his clinical and instrumental data met the diagnostic criteria for both FIRES and acute encephalitis. He received benzodiazepines, levetiracetam, phenytoin, phenobarbital, thiopental, and first-line immunotherapy for acute inflammatory encephalopathy (intravenous methylprednisolone and immunoglobulins), without substantial improvement. Following the detection of anti-neuronal antibodies through immunohistochemistry performed on rat brain slices, he received therapeutic plasma exchange (TPE). His neurological and behavioral conditions improved drastically and his antibody titer fell sharply from the first to the last course of PE. Claustrum abnormalities on MRI disappeared. The patient’s long-term outcome is favorable. At 13 months after discharge, he experienced a focal seizure and carbamazepine was started, achieving seizure control. At 10 years of age, he is still on carbamazepine, with well-controlled seizures, focal EEG abnormalities, and an otherwise normal neurological and cognitive profile and normal MRI. This case strengthens the view that FIRES might constitute the initial clinical presentation of a CNS inflammatory disease that could have, among multiple distinct etiologies, an autoimmune cause. Immunological and specific second- or third-level investigations including immunohistochemistry should be included in the diagnostic work up of patients with FIRES-like phenotypes. PE could be effective in this subset of patients, protecting them from long-term neurological sequelae. |
format | Online Article Text |
id | pubmed-9393788 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93937882022-08-23 Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies Basso, Martina Gastaldi, Matteo Leonardi, Valeria Izzo, Giana Olivotto, Sara Ferrario, Stefania Veggiotti, Pierangelo Franciotta, Diego Bova, Stefania M. Front Pediatr Pediatrics Acute encephalitis and febrile infection-related epilepsy syndrome (FIRES) are debilitating neurological disorders. It is increasingly accepted that FIRES should be considered an autoinflammation-mediated epileptic encephalopathy, but the debate about its etiopathogenesis is still very much open. Despite showing a considerable overlap with encephalitis, it continues to be regarded as a distinct entity. We describe the case of a previously healthy 5-year-old child who, following a fever, developed acute encephalopathy, status epilepticus, neurological, neuropsychological, and psychiatric manifestations, and claustrum involvement on MRI. At symptom onset, his clinical and instrumental data met the diagnostic criteria for both FIRES and acute encephalitis. He received benzodiazepines, levetiracetam, phenytoin, phenobarbital, thiopental, and first-line immunotherapy for acute inflammatory encephalopathy (intravenous methylprednisolone and immunoglobulins), without substantial improvement. Following the detection of anti-neuronal antibodies through immunohistochemistry performed on rat brain slices, he received therapeutic plasma exchange (TPE). His neurological and behavioral conditions improved drastically and his antibody titer fell sharply from the first to the last course of PE. Claustrum abnormalities on MRI disappeared. The patient’s long-term outcome is favorable. At 13 months after discharge, he experienced a focal seizure and carbamazepine was started, achieving seizure control. At 10 years of age, he is still on carbamazepine, with well-controlled seizures, focal EEG abnormalities, and an otherwise normal neurological and cognitive profile and normal MRI. This case strengthens the view that FIRES might constitute the initial clinical presentation of a CNS inflammatory disease that could have, among multiple distinct etiologies, an autoimmune cause. Immunological and specific second- or third-level investigations including immunohistochemistry should be included in the diagnostic work up of patients with FIRES-like phenotypes. PE could be effective in this subset of patients, protecting them from long-term neurological sequelae. Frontiers Media S.A. 2022-08-08 /pmc/articles/PMC9393788/ /pubmed/36003492 http://dx.doi.org/10.3389/fped.2022.908518 Text en Copyright © 2022 Basso, Gastaldi, Leonardi, Izzo, Olivotto, Ferrario, Veggiotti, Franciotta and Bova. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Basso, Martina Gastaldi, Matteo Leonardi, Valeria Izzo, Giana Olivotto, Sara Ferrario, Stefania Veggiotti, Pierangelo Franciotta, Diego Bova, Stefania M. Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies |
title | Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies |
title_full | Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies |
title_fullStr | Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies |
title_full_unstemmed | Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies |
title_short | Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies |
title_sort | connections between febrile infection-related epilepsy syndrome and autoimmune encephalitis. a case report of a child with new anti-neuronal antibodies |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393788/ https://www.ncbi.nlm.nih.gov/pubmed/36003492 http://dx.doi.org/10.3389/fped.2022.908518 |
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