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Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment

Glutamic acid decarboxylase (GAD) antibodies are associated with disabling conditions such as stiff person syndrome, temporal lobe epilepsy (TLE), limbic encephalitis, cerebellar ataxia (CA), and ocular movement disorders, which are usually chronic and difficult to treat. GAD-related TLE has poor re...

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Autores principales: Dimova, Petia, Minkin, Krassimir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8810502/
https://www.ncbi.nlm.nih.gov/pubmed/35126284
http://dx.doi.org/10.3389/fneur.2021.756668
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author Dimova, Petia
Minkin, Krassimir
author_facet Dimova, Petia
Minkin, Krassimir
author_sort Dimova, Petia
collection PubMed
description Glutamic acid decarboxylase (GAD) antibodies are associated with disabling conditions such as stiff person syndrome, temporal lobe epilepsy (TLE), limbic encephalitis, cerebellar ataxia (CA), and ocular movement disorders, which are usually chronic and difficult to treat. GAD-related TLE has poor response to anti-seizure medications and immune therapies, and epilepsy surgery is rarely successful. We report on a 47-year-old female with history of migraine, autoimmune thyroid disease, ankylosing spondylitis, and drug-resistant TLE. A video electroencephalography recorded frequent seizures with temporo-insular semiology, correlating to left temporal epileptiform activity and left mesiotemporal hyperintensity on magnetic resonance imaging. GAD autoimmunity was confirmed by very high GAD antibody titers in serum and cerebrospinal fluid. Steroids, immunoglobulins, and cyclophosphamide had no effect, and selective left amygdalectomy was performed based on very restricted hypermetabolism on positron-emission tomography. After transient seizure freedom, significant epilepsy improvement was observed in spite of memory decline. Transient worsening was noted 1 year later during diabetes mellitus manifestation and 5 years later during presentation of progressive CA, which stabilized on rituximab treatment. We believe this case illustrates the diversity and the frequent overlap of GAD-associated disorders, the need of early and aggressive immunotherapy in severe patients, as well as the possible benefit from epilepsy surgery in some GAD-TLE.
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spelling pubmed-88105022022-02-04 Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment Dimova, Petia Minkin, Krassimir Front Neurol Neurology Glutamic acid decarboxylase (GAD) antibodies are associated with disabling conditions such as stiff person syndrome, temporal lobe epilepsy (TLE), limbic encephalitis, cerebellar ataxia (CA), and ocular movement disorders, which are usually chronic and difficult to treat. GAD-related TLE has poor response to anti-seizure medications and immune therapies, and epilepsy surgery is rarely successful. We report on a 47-year-old female with history of migraine, autoimmune thyroid disease, ankylosing spondylitis, and drug-resistant TLE. A video electroencephalography recorded frequent seizures with temporo-insular semiology, correlating to left temporal epileptiform activity and left mesiotemporal hyperintensity on magnetic resonance imaging. GAD autoimmunity was confirmed by very high GAD antibody titers in serum and cerebrospinal fluid. Steroids, immunoglobulins, and cyclophosphamide had no effect, and selective left amygdalectomy was performed based on very restricted hypermetabolism on positron-emission tomography. After transient seizure freedom, significant epilepsy improvement was observed in spite of memory decline. Transient worsening was noted 1 year later during diabetes mellitus manifestation and 5 years later during presentation of progressive CA, which stabilized on rituximab treatment. We believe this case illustrates the diversity and the frequent overlap of GAD-associated disorders, the need of early and aggressive immunotherapy in severe patients, as well as the possible benefit from epilepsy surgery in some GAD-TLE. Frontiers Media S.A. 2022-01-20 /pmc/articles/PMC8810502/ /pubmed/35126284 http://dx.doi.org/10.3389/fneur.2021.756668 Text en Copyright © 2022 Dimova and Minkin. 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 Neurology
Dimova, Petia
Minkin, Krassimir
Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment
title Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment
title_full Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment
title_fullStr Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment
title_full_unstemmed Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment
title_short Case Report: Multisystem Autoimmune and Overlapping GAD65-Antibody-Associated Neurological Disorders With Beneficial Effect of Epilepsy Surgery and Rituximab Treatment
title_sort case report: multisystem autoimmune and overlapping gad65-antibody-associated neurological disorders with beneficial effect of epilepsy surgery and rituximab treatment
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8810502/
https://www.ncbi.nlm.nih.gov/pubmed/35126284
http://dx.doi.org/10.3389/fneur.2021.756668
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