Abstracts

Rationale: Over the past few years, some epilepsy are associated to immunomediated disorders. The presence of antibody against intracellular and extracellular proteins, especially in refractory epilepsies, provides additional evidence of immunomediated diseases in brain. In refractory epilepsies, auto antibodies against NMDAr, GAD and the complex VGKC can be found in 2 to 16% of patients. In some cases of refractory epilepsy of unknowns cause, we found signs of brain inflammation (CSF fluid alterations, elevation of systemic inflammatory markers, brain MRI alterations) but neural antibodies are negative. The definition of auto inflammatory disease was first introduced by Kastner et al in 2009 after the discovery of a homozygous mutation in the gene MEV1, responsible for Mediterranean Fever. After that, the recognition of inflammasome and interleukin 1 as the main actor in innate immune system responsible for inflammation in these diseases has changed the treatment for some rare disorders. Objetive: Present the case of a patient that had persistent pleocytosis in the cerebrospinal fluid, seizures refractory to current drugs for epilepsy with clinical improvement with nonspecific immunossupression. Discuss about the etiology of inflammation in the brain with review of literature.Methods: Case report and review of the literature with the terms: ""refratory epilepsy"", ""chronic encephalitis"", ""autoimmune epilepsy"", ""autoinflammation of the brain"", ""immunomediated brain diseases"", ""autoinflammatory disease"".Results: The patient A.C.S., female, 19 years old. Seizures started with 2 years-old and are usually during sleep. With 16 years old, seizures increased frequency and began to happen awake. At this point, seizures are characterized as motor arrest, right arm elevation and cephalic version to the left. Despite the uso of innumerous antiepileptic drugs in elevated dosages, she mantained refractory seizures (weekly). Extensive complementary investigation was performed. Brain MRI showed inespecific white matter hyperintensities in FLAIR sequences. CSF studies revealed persistent pleocytosis and/or elevated protein. PET showed marked hypometabolism in left cerebral hemisphere, specially in frontal and temporal regions. A panel of known neural auto-antibodies (NMDA, GABA, AMPA, VGKC) and anti-GAD were negative. Considering CSF alterations, the hypothesis of immunomediated epilepsy was made and we decided empirically treat with intravenous pulse of high-dose corticosteroids (5g monthly for 6 months). After the second month, she improved dramatically and had no more seizures. After 6 months, we decided to keep immunossupression with azatioprine with excellent response (2 focal seizures in 18 months). CSF results were normal after treatment. Her quality of life and cognition also improved.Conclusions: We propose that this patient, with refractory epilepsy and CSF chronic inflammation might be a prototype of a novel category of autoinflammatory disease.