MRI of a family with leukoencephalypathy with vanishing white matter.
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.
Jurkiewicz
Elzbieta
E
Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
Mierzewska
Hanna
H
Bekiesińska-Figatowska
Monika
M
Pakua-Kościesza
Iwona
I
Kmieć
Tomasz
T
Scheper
Gert
G
van der Knaap
Marjo S
MS
Pronicka
Ewa
E
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
D003287:Contrast Media; D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D019786:Gadolinium DTPA; D003401:Creatine; D002794:Choline