Uncommon Pediatric Immune-Mediated Epilepsy: Disease Course, Diagnosis, and Outcome - A Series of Three Cases

Abstract

Immune-mediated epilepsy (IME) constitutes a substantial proportion of drug-refractory epilepsies. Rapid diagnosis and prompt immunosuppression are required along with antiseizure medications (ASMs). Here we report three unrelated children who presented with fever, encephalopathy, and refractory epilepsy and subsequently tested positive for rare intraneuronal and surface receptor antibodies, namely, contactin-associated protein like 2 (CASPR2), glutamic acid decarboxylase (GAD65), and paraneoplastic antigen Ma2 (PNMA2). In all of them, brain magnetic resonance imaging (MRI) was noncontributory. Electroencephalography showed nonspecific interictal epileptic discharges. F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scan revealed abnormality in metabolic pattern with hypermetabolism in basal ganglia, thalami, frontotemporal cortices, and cerebellar hemispheres, consistent with autoimmune encephalitis. Immunosuppression was initiated along with ASMs. Complete seizure freedom was achieved in GAD65 antibody IME and >50% seizure reduction in CASPR2 and PNMA2 antibody IME. A variable degree of behavioral problems persisted in all. Early immunosuppression is warranted in IME, but does not universally guarantee a complete response.