title: An unusual presentation of juvenile Alexander disease.
abstract: Alexander disease is a rare leukodystrophy that most often presents in infancy but also includes neonatal, juvenile, and adult variants. Juvenile Alexander disease presents primarily with bulbar symptoms between 2 and 12 years of age. The diagnosis is often suggested by the clinical course and brain magnetic resonance image pattern and then confirmed by the presence of a mutation in the glial fibrillary acidic protein gene. A young girl presented with globus sensation and magnetic resonance imaging of the brain revealed abnormalities mainly involving white matter tracts of the medulla oblongata and cerebellum. The presence of a mutation in the glial fibrillary acidic protein gene confirmed the diagnosis of juvenile Alexander disease. A high index of clinical suspicion is necessary for the diagnosis of late-onset presentations of Alexander disease.
authors.affiliation: Children's Hospital of Pittsburgh, Division of Child Neurology, Department of Pediatrics, University of Pittsburgh School of Medicine, PA, USA. joana.osorio@chp.edu
authors.forename: Maria Joana
authors.initials: MJ
authors.lastname: Osorio
authors.forename: Sarah
authors.initials: S
authors.lastname: Risen
authors.forename: Gulay
authors.initials: G
authors.lastname: Alper
mesh_terms: D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008526:Medulla Oblongata / Q000473:pathology*; D009154:Mutation / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein