title: MRI of a family with leukoencephalypathy with vanishing white matter.
abstract: Leukoencephalopathy with vanishing white matter (VWM) is a newly described entity with characteristic MRI features. We report the cranial MRI findings in three sisters with slowly progressive neurological deterioration. The MRI showed symmetrical diffuse abnormalities of cerebral white matter with hypointensity on FLAIR images. The diagnosis of leukoencephalopathy with VWM was made on the basis of genetic analysis.
authors.affiliation: Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Jurkiewicz
authors.forename: Hanna
authors.initials: H
authors.lastname: Mierzewska
authors.forename: Monika
authors.initials: M
authors.lastname: Bekiesińska-Figatowska
authors.forename: Iwona
authors.initials: I
authors.lastname: Pakua-Kościesza
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kmieć
authors.forename: Gert
authors.initials: G
authors.lastname: Scheper
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Ewa
authors.initials: E
authors.lastname: Pronicka
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000473:pathology*; D016022:Case-Control Studies; D002524:Cerebellar Ataxia / Q000235:genetics; D002648:Child; D002794:Choline / Q000378:metabolism; D003287:Contrast Media; D003401:Creatine / Q000378:metabolism; D005260:Female; D019786:Gadolinium DTPA; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics; D017354:Point Mutation; D035781:Siblings
chemical_list: D003287:Contrast Media; D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D019786:Gadolinium DTPA; D003401:Creatine; D002794:Choline