Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: A case report

We report the case of a 42-year-old woman with a slowly progressive cerebellar syndrome. In contrast to a relatively mild clinical presentation, the magnetic resonance imaging (MRI) showed extensive leukencephalopathy with cystic degeneration. Initially primary progressive multiple sclerosis (PPMS)...

Full description

Saved in:
Bibliographic Details
Published in:Multiple sclerosis 2015-04, Vol.21 (5), p.666-668
Main Authors: Herwerth, Marina, Schwaiger, Benedikt J, Kreiser, Kornelia, Hemmer, Bernhard, Ilg, Rüdiger
Format: Article
Language:English
Subjects:
Adult
Diagnosis, Differential
Female
Gait Disorders, Neurologic - etiology
Humans
Leukoencephalopathies - diagnosis
Leukoencephalopathies - pathology
Magnetic Resonance Imaging
Movement Disorders - etiology
Multiple Sclerosis, Chronic Progressive - diagnosis
Multiple Sclerosis, Chronic Progressive - pathology
Neurologic Examination
White Matter - pathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report the case of a 42-year-old woman with a slowly progressive cerebellar syndrome. In contrast to a relatively mild clinical presentation, the magnetic resonance imaging (MRI) showed extensive leukencephalopathy with cystic degeneration. Initially primary progressive multiple sclerosis (PPMS) was suspected. Additional diffusion-weighted imaging revealed restricted diffusion in the white matter lesions with a reduced apparent diffusion coefficient. Genetic testing showed vanishing white matter disease (VWM) with c.260C>T EIF2B3 mutation. In conclusion, in cases with relatively mild symptoms and extensive white matter lesions, adult-onset VWM should be considered as differential diagnosis of PPMS and diffusion-weighted imaging may be helpful to identify suspected cases.
ISSN:1352-4585
1477-0970
DOI:10.1177/1352458514546515