title: Alexander Disease.
abstract: Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal ganglia/thalamus. In rare cases, focal lesions have been seen and cause concern for primary malignancies. Here the authors present an infant initially diagnosed with a chiasmatic astrocytoma that was later identified as having glial fibrillary acidic protein mutation-confirmed Alexander disease. Pathologic and radiologic considerations that were helpful in arriving at the correct diagnosis are discussed.
authors.affiliation: 1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.|2 Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Tavasoli
authors.affiliation: 1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.|3 IDIBAPS-Hospital Clinic, University of Barcelona, Barcelona, Spain.|4 Sant Joan de Deu Children's Hospital, University of Barcelona, Barcelona, Spain.
authors.forename: Thais
authors.initials: T
authors.lastname: Armangue
authors.affiliation: 5 Department of Pathology, Children's National Health System, Washington, DC, USA.
authors.forename: Cheng-Ying
authors.initials: CY
authors.lastname: Ho
authors.affiliation: 6 Department of Radiology, Children's National Health System, Washington, DC, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Whitehead
authors.affiliation: 7 Center for Cancer and Blood Disorders, Children's National Health System, Washington, DC, USA.
authors.forename: Miriam
authors.initials: M
authors.lastname: Bornhorst
authors.affiliation: 1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.
authors.forename: Jullie
authors.initials: J
authors.lastname: Rhee
authors.affiliation: 7 Center for Cancer and Blood Disorders, Children's National Health System, Washington, DC, USA.
authors.forename: Eugene I
authors.initials: EI
authors.lastname: Hwang
authors.affiliation: 1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Wells
authors.affiliation: 1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.
authors.forename: Roger
authors.initials: R
authors.lastname: Packer
authors.affiliation: 8 Department of Pediatric Neurology, Center for White Matter Disorders, VUMC of Amsterdam, Amsterdam, Netherlands.
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.affiliation: 8 Department of Pediatric Neurology, Center for White Matter Disorders, VUMC of Amsterdam, Amsterdam, Netherlands.
authors.forename: Marianna
authors.initials: M
authors.lastname: Bugiani
authors.affiliation: 1 Division of Neurology, Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, DC, USA.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
mesh_terms: D038261:Alexander Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology; D001932:Brain Neoplasms / Q000175:diagnosis; D003937:Diagnosis, Differential; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D005904:Glial Fibrillary Acidic Protein