Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity

IMPORTANCE: Autoantibodies to the γ-aminobutyric acid type B (GABAB) receptor have recently been identified as a cause of autoimmune encephalitis. Most patients with GABAB encephalitis have presented with limbic encephalitis. About half of the cases reported have been paraneoplastic in origin, with...

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Autores: Kruer, Michael C., Höftberger, Romana, Lim, Kit Yeng, Coryell, Jason C., Svoboda, Melissa D., Woltjer, Randall L., Dalmau Obrador, Josep
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/119672
Acceso en línea:https://hdl.handle.net/2445/119672
Access Level:acceso abierto
Palabra clave:Immunoglobulines
Encefalitis
Malalties autoimmunitàries
Estudi de casos
Immunoglobulins
Encephalitis
Autoimmune diseases
Case studies
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spelling Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor AutoimmunityKruer, Michael C.Höftberger, RomanaLim, Kit YengCoryell, Jason C.Svoboda, Melissa D.Woltjer, Randall L.Dalmau Obrador, JosepImmunoglobulinesEncefalitisMalalties autoimmunitàriesEstudi de casosImmunoglobulinsEncephalitisAutoimmune diseasesCase studiesIMPORTANCE: Autoantibodies to the γ-aminobutyric acid type B (GABAB) receptor have recently been identified as a cause of autoimmune encephalitis. Most patients with GABAB encephalitis have presented with limbic encephalitis. About half of the cases reported have been paraneoplastic in origin, with the majority of tumors representing small cell lung cancer. OBSERVATIONS: We describe a 3-year-old boy who presented with a mixed movement disorder (opsoclonus, ataxia, and chorea) as well as seizures refractory to treatment. His seizures required continuous pentobarbital sodium infusion to be controlled. Despite treatment with intravenous corticosteroids and immunoglobulins, the patient ultimately died of overwhelming sepsis. CONCLUSIONS AND RELEVANCE: To our knowledge, this report represents the first pediatric case of GABAB-associated encephalitis. Our patient presented with encephalopathy, refractory seizures, and a mixed movement disorder rather than limbic encephalitis. γ-Aminobutyric acid type B receptor autoimmunity deserves consideration in pediatric patients presenting with encephalitis. Immune-mediated encephalitis with autoantibodies directed against synaptic proteins has become an important component of the differential diagnosis of patients with encephalitis. Current estimates suggest that a substantial proportion of patients once suspected to have viral encephalitis in fact have an autoimmune etiology for their symptoms.1 Additional autoantigen targets continue to be identified, and the phenotypic spectrum associated with autoimmune encephalitis continues to expand. We describe a 3-year-old patient who presented with acute-onset confusion, opsoclonus, chorea, and intractable seizures. Neuroimaging disclosed involvement of the brainstem, basal ganglia, and hippocampi. γ-Aminobutyric acid type B (GABAB) receptor autoantibodies were identified in the serum and cerebrospinal fluid (CSF). Despite immunomodulating therapy, the patient died of overwhelming sepsis. To our knowledge, this is the first description of a pediatric patient with GABAB receptor autoantibodies. The presence of opsoclonus, ataxia, and chorea expands the clinical phenotype and indicates that GABAB receptor autoimmunity should be considered in cases of pediatric encephalitisAmerican Medical Association2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/119672Articles publicats en revistes (Medicina)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1001/jamaneurol.2013.4786JAMA Neurology, 2014, vol. 71, num. 5, p. 620-623https://doi.org/10.1001/jamaneurol.2013.4786(c) American Medical Association, 2014info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1196722026-05-27T06:46:51Z
dc.title.none.fl_str_mv Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
title Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
spellingShingle Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
Kruer, Michael C.
Immunoglobulines
Encefalitis
Malalties autoimmunitàries
Estudi de casos
Immunoglobulins
Encephalitis
Autoimmune diseases
Case studies
title_short Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
title_full Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
title_fullStr Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
title_full_unstemmed Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
title_sort Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures. The First Pediatric Case of γ-Aminobutyric Acid Type B Receptor Autoimmunity
dc.creator.none.fl_str_mv Kruer, Michael C.
Höftberger, Romana
Lim, Kit Yeng
Coryell, Jason C.
Svoboda, Melissa D.
Woltjer, Randall L.
Dalmau Obrador, Josep
author Kruer, Michael C.
author_facet Kruer, Michael C.
Höftberger, Romana
Lim, Kit Yeng
Coryell, Jason C.
Svoboda, Melissa D.
Woltjer, Randall L.
Dalmau Obrador, Josep
author_role author
author2 Höftberger, Romana
Lim, Kit Yeng
Coryell, Jason C.
Svoboda, Melissa D.
Woltjer, Randall L.
Dalmau Obrador, Josep
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Immunoglobulines
Encefalitis
Malalties autoimmunitàries
Estudi de casos
Immunoglobulins
Encephalitis
Autoimmune diseases
Case studies
topic Immunoglobulines
Encefalitis
Malalties autoimmunitàries
Estudi de casos
Immunoglobulins
Encephalitis
Autoimmune diseases
Case studies
description IMPORTANCE: Autoantibodies to the γ-aminobutyric acid type B (GABAB) receptor have recently been identified as a cause of autoimmune encephalitis. Most patients with GABAB encephalitis have presented with limbic encephalitis. About half of the cases reported have been paraneoplastic in origin, with the majority of tumors representing small cell lung cancer. OBSERVATIONS: We describe a 3-year-old boy who presented with a mixed movement disorder (opsoclonus, ataxia, and chorea) as well as seizures refractory to treatment. His seizures required continuous pentobarbital sodium infusion to be controlled. Despite treatment with intravenous corticosteroids and immunoglobulins, the patient ultimately died of overwhelming sepsis. CONCLUSIONS AND RELEVANCE: To our knowledge, this report represents the first pediatric case of GABAB-associated encephalitis. Our patient presented with encephalopathy, refractory seizures, and a mixed movement disorder rather than limbic encephalitis. γ-Aminobutyric acid type B receptor autoimmunity deserves consideration in pediatric patients presenting with encephalitis. Immune-mediated encephalitis with autoantibodies directed against synaptic proteins has become an important component of the differential diagnosis of patients with encephalitis. Current estimates suggest that a substantial proportion of patients once suspected to have viral encephalitis in fact have an autoimmune etiology for their symptoms.1 Additional autoantigen targets continue to be identified, and the phenotypic spectrum associated with autoimmune encephalitis continues to expand. We describe a 3-year-old patient who presented with acute-onset confusion, opsoclonus, chorea, and intractable seizures. Neuroimaging disclosed involvement of the brainstem, basal ganglia, and hippocampi. γ-Aminobutyric acid type B (GABAB) receptor autoantibodies were identified in the serum and cerebrospinal fluid (CSF). Despite immunomodulating therapy, the patient died of overwhelming sepsis. To our knowledge, this is the first description of a pediatric patient with GABAB receptor autoantibodies. The presence of opsoclonus, ataxia, and chorea expands the clinical phenotype and indicates that GABAB receptor autoimmunity should be considered in cases of pediatric encephalitis
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/119672
url https://hdl.handle.net/2445/119672
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1001/jamaneurol.2013.4786
JAMA Neurology, 2014, vol. 71, num. 5, p. 620-623
https://doi.org/10.1001/jamaneurol.2013.4786
dc.rights.none.fl_str_mv (c) American Medical Association, 2014
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) American Medical Association, 2014
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv American Medical Association
publisher.none.fl_str_mv American Medical Association
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300719

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