Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

Abstract

To find imaging signs of active degenerative processes in vanishing white matter disease (VWM), six VWM patients and six matched controls underwent MR examinations. The data were analyzed with modified Scheltens scales for morphological findings and determined quantitatively for apparent diffusion coefficient (ADC). Single‐voxel MR spectra were acquired at the parietal white matter and analyzed with LCModel. Typical VWM brain lesions were found in all patients accompanied by proton diffusion abnormalities: Increased ADC appeared in brain regions with severe myelin destruction in all patients, and reduced ADC in two of six younger patients in remaining white matter adjacent to the lesions or at the borders around the lesions, who had a short history of the disease (≤ 1 year). The MR spectroscopy revealed reductions of NAA, Cho, and Cr, which correlate to the grade of white matter abnormalities. An increase of myo‐inositol as marker of reactive gliosis was missing. Thus, restricted proton diffusion was evident in younger VWM patients with short history of disease, which in combination with lack of reactive gliosis may reflect early white matter degeneration in VWM. The multimodal MR methods are useful for characterizing such tissue degeneration in brain in vivo. J. Magn. Reson. Imaging 2012;35:926–932. © 2011 Wiley Periodicals, Inc.

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

“…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. 7 Cerebellar atrophy predominantly involving the vermis associated with decreased NAA peak in MRS, as seen in the index child's neuroimaging have both been classically reported in VWM disease.…”

Automated segmentation reveals silent radiographic progression in adult-onset vanishing white-matter disease

“…Our patient seemed to be clinically stable over the course of one year but EVD-based automated volumetry revealed a progression of WMH. Considering that progression of VWM is mainly quantified by clinical scores or semi-quantitative MRI rating scales, 16 we hypothesize that MRI volumetry could be a more objective and accurate additional diagnostic tool. Our results indicate that even in VWM patients with stable clinical course there could be a silent radiographic progression.…”

Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report

“…При проведении магнитно-резонансной томографии (МРТ) головного мозга у пациентов выявляется симметричное диффузное поражение белого вещества, чаще негомогенное, прерываемое типичной сеткой из оставшихся нитей ткани, с обрамлением мозолистого тела, передней спайки и внутренней капсулы; c прогрессированием болезни развивается тяжелая кистозная дегенерация белого вещества, оно постепенно «исчезает» [4]. На завершающих стадиях заболевания белое вещество практически полностью отсутствует, сохраняются только стенки желудочков и кора головного мозга [4,14]. У пациентов с поздней ЛЭ-ИБВ выявляются кортикальная атрофия и расширение боковых желудочков, иногда атрофия червя мозжечка [9].…”