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

Frontiers in Neurology

Neurology

Petia Dimova¹  Krassimir Minkin² 

[1] Epileptology Unit at Epilepsy Surgery Center, Department of Neurosurgery, St. Ivan Rilski University Hospital, Sofia, Bulgaria;Functional and Epilepsy Surgery Center, Department of Neurosurgery, St. Ivan Rilski University Hospital, Sofia, Bulgaria;

关键词: autoimmune;    GAD;    cerebellar;    diabetes;    epilepsy;    insular;    temporal;    surgery;   

DOI  :  10.3389/fneur.2021.756668

 received in 2021-08-10, accepted in 2021-12-13,  发布年份 2022

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

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Copyright © 2022 Dimova and Minkin.