Dataset Information

Severe Relapsing Autoimmune Encephalitis with GABA_A Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

ABSTRACT:

Introduction

We report a challenging case of autoimmune encephalitis in a patient with a thymoma harboring titin and acetylcholine receptor antibodies, who experienced multiple relapses despite thymectomy and aggressive first-line immunotherapy, and for whom GABA_A receptor antibodies were ultimately identified.

Case presentation

This 40-year-old man presented with headaches, weakness, diplopia, hearing loss, and seizures progressing to status epilepticus. Brain MRI showed multifocal cortical and subcortical T2/fluid attenuated inversion recovery hyperintense lesions without enhancement. Initial neural antibody testing identified only acetylcholine receptor and titin antibodies. He presented multiple severe relapses despite complete thymoma resection, intravenous methylprednisolone with immunoglobulins or plasmapheresis, and mycophenolate mofetil. Second-line immunotherapy with rituximab was successful to alleviate symptoms and normalize the EEG and MRI after identification of anti-GABA_A receptor antibodies on more comprehensive neural antibody testing for autoimmune encephalitis.

Conclusion

This case demonstrates the complexity and importance of identifying pathogenic antibodies and selecting 2nd line treatment accordingly in patients with autoimmune encephalitis when multiple antibodies coexist. Despite tumor resection, aggressive immunotherapy may be needed to prevent further deterioration in anti-GABA_A receptor encephalitis.

SUBMITTER: Boisclair M

PROVIDER: S-EPMC11250063 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature

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Publications

Severe Relapsing Autoimmune Encephalitis with GABA<sub>A</sub> Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

Boisclair Mélissa M Robitaille Charlotte C Budhram Adrian A Kunchok Amy A Chapdelaine Hugo H Létourneau-Guillon Laurent L Macaron Gabrielle G Larochelle Catherine C

Case reports in neurology 20240101 1

<h4>Introduction</h4>We report a challenging case of autoimmune encephalitis in a patient with a thymoma harboring titin and acetylcholine receptor antibodies, who experienced multiple relapses despite thymectomy and aggressive first-line immunotherapy, and for whom GABA<sub>A</sub> receptor antibodies were ultimately identified.<h4>Case presentation</h4>This 40-year-old man presented with headaches, weakness, diplopia, hearing loss, and seizures progressing to status epilepticus. Brain MRI show ...[more]

PMID: 39015826

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Project description:IntroductionThe presence of oligoclonal bands (OCBs) in cerebrospinal fluid (CSF) is a pivotal diagnostic marker for multiple sclerosis (MS). These bands play a crucial role in the diagnosis and understanding of a wide array of immune diseases. In this study, we explore the relationship between the cognitive profile of autoimmune encephalitis (AIE) and the presence of OCBs in CSF, with a particular emphasis on NMDA receptor antibodies.MethodsWe studied a cohort of 21 patients across five tertiary centers, segregated into two distinct categories. One group comprised individuals who tested positive only for autoimmune encephalitis antibodies indicative of encephalitis, while the other group included patients whose CSF was positive for both autoimmune encephalitis antibodies and OCBs. Our investigation focused primarily on cognitive functions and behavioral alterations, supplemented by auxiliary diagnostic assessments such as CSF cell count, magnetic resonance imaging (MRI), and electroencephalogram (EEG) results, evaluated for the two patient groups. To validate our findings, we employed statistical analyses such as Fisher's exact test with Benjamini-Hochberg correction.ResultsOur study included 21 patients, comprising 14 who were presented with only autoimmune encephalitis antibodies, and 7 who were dual-positive. Among these patients, we focused on those with NMDA receptor antibodies. Of these, five were dual positive, and nine were positive only for NMDA receptor antibodies. The dual-positive NMDA group, with an average age of 27 ± 16.47 years, exhibited significantly higher CSF cell counts (p=0.0487) and more pronounced language and attention deficits (p= 0.0264). MRI and EEG results did not differ significantly between the groups.ConclusionsOur results point to OCBs as an additional marker of disease severity in AIE, especially in NMDA receptor-antibody positive patients, possibly indicating a broader inflammatory process, as reflected in elevated CSF lymphocytes. Regular testing for OCBs in cases of suspected AIE may aid in disease prognosis and identification of patients more prone to language and attention disorders, improving diagnosis and targeting treatment for these cognitive aspects.

Dataset Information

Severe Relapsing Autoimmune Encephalitis with GABA_A Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

Introduction

Case presentation

Conclusion

Publications

Severe Relapsing Autoimmune Encephalitis with GABA<sub>A</sub> Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Dataset Information

Severe Relapsing Autoimmune Encephalitis with GABAA Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

Introduction

Case presentation

Conclusion

Publications

Severe Relapsing Autoimmune Encephalitis with GABA<sub>A</sub> Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Severe Relapsing Autoimmune Encephalitis with GABA_A Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.