title: Infantile spasms in one member of a family with benign familial neonatal convulsions.
abstract: Seven members of two generations experienced benign familial neonatal convulsions (BFNC) in the neonatal period and/or early infancy. All but 1 family member had a good prognosis. One family member with infantile spasms (IS) was delivered by cesarean section at 37 weeks gestation. Birth weight (2,562 g) was slightly lower than that of other family members. At age 20 days, adversive seizures started. At age 1 month, 10 days, she developed complex partial seizures (CPS) and IS. Interictal EEG showed hypsarrhythmia. Biochemical investigations and head magnetic resonance imaging (MRI) scan showed no abnormalities. Treatment with valproate (VPA) and carbamazepine (CBZ) stopped the seizures, and she had no seizures after age 3 months. Psychomotor development was moderately delayed at 8 months. This is the first reported case of a severe epilepsy, IS, in association with BFNC.
authors.affiliation: Department of Pediatrics, Social Insurance Ritsurin Hospital, Takamatsu, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: I
authors.initials: I
authors.lastname: Yano
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D001724:Birth Weight; D002220:Carbamazepine / Q000627:therapeutic use; D004569:Electroencephalography; D017029:Epilepsy, Complex Partial / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005190:Family; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D011379:Prognosis; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D002220:Carbamazepine; D014635:Valproic Acid