Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis

• Published in: Brain & development (Tokyo. 1979) 2010-01, Vol.32 (1), p.51-56
• Main Authors: Specchio, Nicola, Fusco, Lucia, Claps, Dianela, Vigevano, Federico
• Format: Article
• Language: English
• Subjects: Animals; Brain Diseases - immunology; Brain Diseases - physiopathology; Encephalitis; Encephalitis - immunology; Encephalitis - physiopathology; Encephalopathy; Epilepsy - immunology; Epilepsy - physiopathology; Fever; Humans; Immune-mediated; Neuroimmunomodulation - physiology; Neurology; Partial seizures; Severe epilepsy
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2009.09.017

Abstract Severe epilepsy in the paediatric population negatively influences neurological and cognitive development. Different etiological factors could be responsible of these severe epilepsies, and an early diagnosis could change, in some cases, the neurological and cognitive development. Immune mechanisms have been reported in epilepsy. Epilepsy has been associated with systemic lupus erythematosus, with the presence of anti-phospholipid antibodies (aPL), anti-cardiolipin antibodies, anti-nuclear antibodies, Β2-glycoprotein antibodies, and anti-glutamic acid decarboxylase (anti-GAD) antibodies. CNS inflammation and markers of adaptive immunity have been, also, associated with some epileptic syndromes, such as West syndrome, temporal lobe epilepsy, febrile seizures, tonic–clonic seizures, and tuberous sclerosis. Inflammation and blood–brain barrier (BBB) disruption could be one of the mechanisms responsible for seizure recurrence. Recently clinical entities, characterized by severe epilepsy with a febrile, acute or sub-acute onset, sometimes associated with status epilepticus, followed by drug-resistant, partial epilepsy have been described. Some of these publications also suggested acronyms for the condition described: Acute Encephalitis with Refractory, Repetitive Partial Seizures (AERRPS) reported by Japanese authors, Devastating Epileptic Encephalopathy in School-aged Children (DESC) reported by French authors. Among children with acquired symptomatic severe epilepsy, we identified a group of previously normal children who had developed severe partial epilepsy after an acute/sub-acute illness resembling encephalitis. The etiological factors for those patients seems to remain unknown, and a possible immune-mediating or inflammatory process as pathogenesis of the disease could be hypothesized. More studies need to be addressed to finally define this peculiar epileptic entity.