MRI of a family with leukoencephalypathy with vanishing white matter

Elzbieta Jurkiewicz; Hanna Mierzewska; Monika Bekiesińska-Figatowska; Iwona Pakua-Kościesza; Tomasz Kmieć; Gert Scheper; Marjo S van der Knaap; Ewa Pronicka

doi:10.1007/s00247-005-1498-3

MRI of a family with leukoencephalypathy with vanishing white matter

Pediatr Radiol. 2005 Oct;35(10):1027-30. doi: 10.1007/s00247-005-1498-3. Epub 2005 May 24.

Authors

Elzbieta Jurkiewicz¹, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Iwona Pakua-Kościesza, Tomasz Kmieć, Gert Scheper, Marjo S van der Knaap, Ewa Pronicka

Affiliation

¹ Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.

PMID: 15912409
DOI: 10.1007/s00247-005-1498-3

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.

Publication types

Case Reports

MeSH terms

Adolescent
Amino Acid Substitution
Aspartic Acid / analogs & derivatives
Aspartic Acid / metabolism
Brain / pathology*
Case-Control Studies
Cerebellar Ataxia / genetics
Child
Choline / metabolism
Contrast Media
Creatine / metabolism
Female
Gadolinium DTPA
Heredodegenerative Disorders, Nervous System / genetics*
Heredodegenerative Disorders, Nervous System / pathology*
Humans
Lactic Acid / metabolism
Magnetic Resonance Imaging*
Muscle Spasticity / genetics
Optic Atrophy / genetics
Point Mutation
Siblings*

Substances

Contrast Media
Aspartic Acid
Lactic Acid
N-acetylaspartate
Gadolinium DTPA
Creatine
Choline