Restricted Diffusion in Vanishing White Matter

Lei, H.D.W. van der; Steenweg, Marjan E.; Bugiani, Marianna; Pouwels, Petra J. W.; Vent, Inge M.; Barkhof, Frederik; Wieringen, Wessel N. van; Knaap, Marjo S. van der

doi:10.1001/archneurol.2011.1658

Cited by 19 publications

(4 citation statements)

References 31 publications

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“…White matter cavitations are also seen in mitochondrial leukoencephalopathies (23,24), but cysts have well-delineated borders, which often display diffusion restriction and contrast enhancement. In VWM, the white matter cystic decay is more diffuse, contrast enhancement is absent (1,25), and diffusion restriction occurs in relatively preserved white matter (26). Radiating stripes within abnormal cerebral white matter are shared by VWM, metachromatic leukodystrophy, and Krabbe disease (1,27).…”

Section: Discussionmentioning

confidence: 99%

MRI Natural History of the Leukodystrophy Vanishing White Matter

Stellingwerff

Al-Saady

Brug³

et al. 2021

Radiology

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NEURORADIOLOGYI n vanishing white matter (VWM), a form of leukodystrophy, the cerebral white matter is the only or the most prominently affected tissue (1). The MRI feature defining VWM is progressive rarefaction and cystic decay of the cerebral white matter, leading to a white matter signal close to or the same as that of cerebrospinal fluid (CSF) on proton density and fluid-attenuated inversion recovery (FLAIR) images (1). The rarefied and cystic white matter typically contains radiating stripes, suggesting relatively preserved perivascular tissue strands (1). The white matter involvement is extensive or diffuse (1); only the directly subcortical white matter may be spared (2). Neuropathologic evaluation confirms the interpretation of the MRI findings (3).VWM is caused by biallelic sequence variations in any of the EIF2B1-5 genes, which encode the five subunits of the eukaryotic translation initiation factor eIF2B (4,5). The onset of VWM is mainly in early childhood but ranges from the antenatal period to senescence (6). For onset before age 4 years, earlier manifestation is associated with faster clinical disease progression. Patients with onset after age 4 years tend to have a milder disease course, irrespective of the exact age at onset (6).Currently, there is no therapy for VWM, but various drugs are in clinical development and will be assessed in trials (7-9). Although clinical parameters provide primary outcome measures, MRI parameters may serve as secondary or surrogate outcome measures. For the past 3 decades, MRI has played an important role in the diagnosis of VWM (1). The time course of the cerebral white matter decay has, however, not been investigated, and systematic information on MRI evolution for different ages of onset is lacking. For MRI to play a role in therapeutic trials, this basic information is needed. We therefore studied the progression of cerebral white matter abnormalities at MRI in a large group of patients with genetically confirmed VWM, representing all ages of onset.Background: In vanishing white matter (VWM), a form of leukodystrophy, earlier onset is associated with faster clinical progression. MRI typically shows rarefaction and cystic destruction of the cerebral white matter. Information on the evolution of VWM according to age at onset is lacking.Purpose: To determine whether nature and progression of cerebral white matter abnormalities in VWM differ according to age at onset. Materials and Methods:Patients with genetically confirmed VWM were stratified into six groups according to age at onset: younger than 1 year, 1 year to younger than 2 years, 2 years to younger than 4 years, 4 years to younger than 8 years, 8 years to younger than 18 years, and 18 years or older. With institutional review board approval, all available MRI scans obtained between 1985 and 2019 were retrospectively analyzed with three methods: (a) ratio of the width of the lateral ventricles over the skull (ventricle-to-skull ratio [VSR]) was measured to estimate brain atrophy; (b) cerebral white matter wa...

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Section: Discussionmentioning

confidence: 99%

MRI Natural History of the Leukodystrophy Vanishing White Matter

Stellingwerff

Al-Saady

Brug³

et al. 2021

Radiology

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“…van der Lei, et al studied the DWI of 46 individuals suffering from VWM disease where it was observed that diffusion restriction occurred in younger patients with short disease course in areas of brain that were relatively unaffected by disease and had high cellularity. 5 Ding, et al reported the presence of diffusion restriction in six patients with VWM who had short disease duration of less than 12 months. 6 However, researchers opine that diffusion restriction is an uncommon feature of VWM and genetic confirmation is essential for establishing the diagnosis especially if the neuroimaging is atypical.…”

Section: Discussionmentioning

confidence: 99%

Vanishing White Matter Disease Presenting as Acute Febrile Encephalopathy: Case Report

Goswami

K.P

Simalti

et al. 2021

Journal of Pediatric Neurology

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A 3.5-year-old male child patient with mild developmental delay presented with history of acute onset fever, encephalopathy, and dyskinesia. The patient was investigated for common etiologies and was managed supportively. His neuroimaging was suggestive of vanishing white matter (VWM) disease which was confirmed by clinical exome sequencing. The child had an eventful hospital stay followed by near-total recovery after 4 weeks. The case attempts to sensitize readers about the current perspectives pertaining to VWM disease.

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“…In Megalencephalic Leukoencephalopathy with subcortical Cysts the intramyelinic vacuoles are large and cause facilitated diffusion ( van der Voorn et al, 2006 ). In Vanishing White Matter, increased cellularity in relatively spared regions leads to restricted diffusion, whereas rarefied or cystic regions have facilitated diffusion ( van der Lei et al, 2012 ). In MLD, sulfatide accumulation in distended perivascular macrophages may result in white matter stripes with restricted diffusion ( Oguz et al, 2004 , Seidl et al, 2008 , Sener, 2003 , van Rappard et al, 2018b ).…”

Section: Quantitative Mrimentioning

confidence: 99%