2023 American Academy of Neurology Abstract Website

Objective:

Discuss current clinical and neuroimaging phenotypes associated with GABA-A receptor encephalitis as applied to the case of a 14-year old female with a two-month history of behavior change and subsequent development of new onset refractory status epilpeticus and reversible vasculopathy.

Background:

Anti-Gamma Amino Butyric Acid-A (GABA-A) Receptor Encephalitis is an antibody mediated encephalitis which manifests with neurocognitive dysfunction, pharmacoresistant seizures, movement disorders, dysautonomia, and multifocal T2 FLAIR lesions in the cortex and subcortex without mass effect or enhancement. Not all patients fulfill these characteristics, creating challenges in early identification and treatment.

Design/Methods:

n/a

Results:

In this case we will discuss the current clinical and neuroimaging phenotypes associated with GABA-A receptor encephalitis cited in the literature and challenge their application to the case of a 14-year old female with a two-month history of behavior change and weight loss who was found to have serum and CSF positive anti-GABA-A receptor α1 subunit encephalitis. MRI showed persistent multifocal cortical/subcortical T2 changes during evaluation. Clinical course progressed from her initial behavioral changes to development of dysautonomia, new onset refractory status epilepticus (NORSE), and reversible vasculopathy. NORSE did not resolve until immunotherapy was escalated to apharesis and rituximab. Patient clinically improved and started cyclophosphamide for maintenance immunotherapy.

Conclusions:

GABA-A Receptor Encephalitis clinical features demonstrate progressive behavioral changes, dysautonomia, and new onset refractory status epilepticus. Radiographic features include persistent multifocal cortical/subcortical T2 changes. This case reinforces the previously described clinical and radiographic phenotypes of GABA-A receptor encephalitis, as well as the role of timely escalation of immunotherapy treatment. Further investigation is needed to observe the impact of primary immunodeficiency disorders and antibody mediated encephalitis disease.