title: Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature.
abstract: Neonatal seizures are critical conditions because they are usually related to significant illnesses that require a specific therapy. Antepartum and peripartum seizures are very rare, and represent signs of prenatal-onset neurologic dysfunction. A review of the literature revealed that the main etiologies include severe brain malformations, multiple anomalies, and metabolic encephalopathy. A high incidence of early fatality and serious neurologic sequelae were noted. To our knowledge, this is the first case report of neonatal adrenoleukodystrophy presenting with seizure at birth. These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates.
authors.affiliation: Department of Pediatrics, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan. ycchao@adm.cgmh.org.tw
authors.forename: Ying-Chao
authors.initials: YC
authors.lastname: Chang
authors.forename: Chao-Ching
authors.initials: CC
authors.lastname: Huang
authors.forename: Song-Chei
authors.initials: SC
authors.lastname: Huang
authors.forename: Fang-Chih
authors.initials: FC
authors.lastname: Hung
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D018901:Peroxisomal Disorders / Q000097:blood / Q000150:complications / Q000503:physiopathology*; D011247:Pregnancy; D012640:Seizures / Q000097:blood / Q000151:congenital / Q000503:physiopathology*