title: Early-onset absence epilepsy at eight months of age.
abstract: Early-onset absence epilepsy refers to patients with absence seizures beginning before age four and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a girl with intractable absence seizures with onset at age eight months. Her seizures were characterised by loss of responsiveness, with eyes drifting upwards and some myoclonic jerks of the upper and lower limbs. These symptoms were accompanied by bilaterally symmetric high-amplitude 2-2.5 Hz generalised spike-and-wave discharges on the electroencephalogram. Her seizures were refractory to conventional antiepileptic drugs; treatment with adrenocorticotropic hormone was transiently effective. Comprehensive metabolic screening, cytogenetic, and genetic analysis did not determine an underlying cause of her condition. Patients with intractable, very early-onset absence epilepsy with a myoclonic component have an unfavourable outcome and may be classified under a new epileptic syndrome, such as "early infantile absence epilepsy".
authors.affiliation: Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata. u-kb@masa.go.jp
authors.forename: Yu
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Akasaka
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Ohashi
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.forename: Yuko
authors.initials: Y
authors.lastname: Tomonoh
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D000328:Adult; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D002658:Developmental Disabilities / Q000150:complications; D004351:Drug Resistance; D004569:Electroencephalography / Q000187:drug effects; D004832:Epilepsy, Absence / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D011247:Pregnancy; D012008:Recurrence; D012640:Seizures / Q000503:physiopathology / Q000523:psychology; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D000324:Adrenocorticotropic Hormone