title: [A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2].
abstract: A 3-year-old boy was admitted to our hospital with repetitive drop attacks and generalized tonic-clonic seizures. Brain MRI, SPECT and blood laboratory tests did not show any abnormalities, while antibody to glutamate receptor epsilon 2 (GluR epsilon 2) in spinal fluid was positive. Interictal EEG showed generalized 6 to approximately 7 Hz slow, wave and ictal EEG showed 1 to approximately 2 Hz high amplitude generalized spike and slow wave burst. We made a diagnosis as myoclonic astatic epilepsy (MAE). However, his seizures were refractory to almost all antiepileptic drugs, steroid pulse therapy and gamma-globulin therapy. Eight months after the first attack, administration of ACTH therapy was effective. Seizures disappeared and EEG findings improved. To our knowledge, there have been no previous reports of MAE in which autoantibody to GluR epsilon 2 was positive. It is suggested that autoimmunity in this case was associated with the pathogenesis of MAE.
authors.affiliation: Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane. anzu.1010@w8.dion.ne.jp
authors.forename: Anzu
authors.initials: A
authors.lastname: Takahashi
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sejima
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Yoshioka
authors.forename: Kazuko
authors.initials: K
authors.lastname: Kishi
authors.forename: Yukitoshi
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
mesh_terms: D001323:Autoantibodies / Q000134:cerebrospinal fluid*; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000276:immunology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D016194:Receptors, N-Methyl-D-Aspartate / Q000276:immunology*
chemical_list: D001323:Autoantibodies; C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate