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Título

Cortical dysplasia and anti-GAD encephalitis in a patient with refractory mesial temporal lobe epilepsy: case report.

RESUMO

Case presentation: Female patient, with type 1 DM and hypothyroidism, with non-perceptive seizures since 14 years old. Deja Vu aura, oro-masticatory and motor automatism were described. She used to have 3-6 episodes/day. An investigation was performed with brain MRI, evidencing right mesial temporal cortical dysplasia, and video-EEG with right temporal ictal semiology but left temporal electrographic onset. Seizures were refractory to treatment with 1200mg/day carbamazepine. PET compatible with bilateral temporal hypometabolism, worse on the right, neuropsychological evaluation with visuospatial difficulty. Given the suspicion of Cortical Dysplasia, a surgical approach was chosen, with a right temporal lobectomy performed. Pathology compatible with type IB cortical dysplasia.
After surgery, she was seizure-free and drug-free for 2 years, when she had a recurrence of seizures with the same ictal pattern. Even after adjusting the antiepileptic medications, there was no satisfactory control of the seizures. In view of the endocrine disease, the possibility of associated anti-GAD encephalitis was raised, with documented antibody positivity in the CSF, in addition to the raising of serum titers in the period seizure recurrence. Immunotherapy with IVIG was started for 5 days in 2021 with marked seizure frequency reduction.
Discussion: Active neuroinflammation and cell injury seems to play a common pathogenic role in epilepsies. The increased prevalence of autoantibodies in epilepsy reinforces that immune dysregulation participates in this process. As in temporal lobe epilepsy and cortical dysplasias, in immune-mediated encephalitis, there is microglial activation, providing evidence of an immune response, in addition to astroglial activation, which accompanies the progression of cortical damage and probably participates in the inflammatory process.
Among patients with epilepsy, 2.58% of them had a positive anti-GAD antibody. The correlation between focal dysplasia and anti-GAD encephalitis seems to raise the idea that an autoimmune response caused by dysmorphic neurons contributes to the pathogenesis of the intense inflammatory response.
Outcome: Epilepsies that have autoimmunity as an etiology go beyond this spectrum and it is increasingly important to recognize them as potentially treatable with immune modulation. Even with scarce evidence, patients with focal epilepsies and autoantibodies may benefit from immunotherapy even after surgical intervention.

Palavras Chave

Cortical dysplasia, anti-GAD encephalitis, refractory epilepsy