title: Alexander's disease in a neurologically normal child: a case report.
abstract: We report the clinical and MRI findings of symmetric hyperintensity involving the deep and subcortical white matter of the frontal lobes in a neurologically normal child with macrocephaly. In this patient, a serum test for mutations in glial fibrillary acidic protein, used to diagnose Alexander's disease (AD), was positive. This case indicates an extraordinarily mild or early form of juvenile-onset AD.
authors.affiliation: Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga Unit, Erlanger Health System, 975 East Third Street, Chattanooga, TN 37304, USA.
authors.forename: Scott O
authors.initials: SO
authors.lastname: Guthrie
authors.forename: Edward M
authors.initials: EM
authors.lastname: Burton
authors.forename: Paul
authors.initials: P
authors.lastname: Knowles
authors.forename: Robert
authors.initials: R
authors.lastname: Marshall
mesh_terms: D038261:Alexander Disease / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D005819:Genetic Markers / Q000235:genetics; D005904:Glial Fibrillary Acidic Protein / Q000097:blood / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D017354:Point Mutation / Q000235:genetics
chemical_list: D005819:Genetic Markers; D005904:Glial Fibrillary Acidic Protein