Restricted diffusion in vanishing white matter.
OBJECTIVE
To investigate the occurrence of restricted diffusion in vanishing white matter, the affected structures,the time of occurrence in the disease course, and the histopathologic correlate.


METHODS
Retrospective observational study.


METHODS
Forty-six patients with vanishing white matter.


METHODS
VU University Medical Center.


METHODS
We evaluated all available diffusion-weighted imaging studies in our database and recorded the areas that displayed restricted diffusion in 1 or more patients. We measured the mean apparent diffusion coefficients of these areas in all patients and used the putamen for internal quality control. We recorded age and disease duration during magnetic resonance imaging, and we obtained a magnetic resonance image of a postmortem vanishing white matter brain slice and subsequently performed histopathologic stainings.


RESULTS
Areas with decreased apparent diffusion coefficient values were found in the U fibers (n=21 patients), cerebellar white matter (n=18), middle cerebellar peduncle(n=8), pyramids (n=8), genu (n=8) or splenium (n=9) of the corpus callosum, and posterior limb of the internal capsule(n=10). Overall, patients showing restricted diffusion(n=32)were younger and had shorter disease duration. Histopathologic analysis of the brain slice revealed that regions with restricted diffusion had a higher cell density.


CONCLUSIONS
In vanishing white matter, restricted diffusion can be found in relatively spared regions with high cellularity particularly in young patients with short disease duration.
Departments of Pediatrics/Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands.
Hannemieke D W
HD
van der Lei
Marjan E
ME
Steenweg
Marianna
M
Bugiani
Petra J W
PJ
Pouwels
Inge M
IM
Vent
Frederik
F
Barkhof
Wessel N
WN
van Wieringen
Marjo S
MS
van der Knaap
D016880:Anisotropy; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D056784:Leukoencephalopathies / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D019370:Observation; D012189:Retrospective Studies
D020717:Eukaryotic Initiation Factor-2B