disease 2,027 words KG: ent-dise-a8216cf9
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Vanishing White Matter Disease (VWM)

Disease Info
Myelin loss and cavitationProgressive loss of myelin and oligodendrocytes leads to white matter rarefaction. The white matter eventually develops fluid-filled cysts, giving the characteristic "vanishing" appearance on MRI.
Foamy oligodendrocytesA distinctive feature is the presence of "foamy" oligodendrocytes with cytoplasmic vacuolation, suggesting impaired lipid metabolism and protein processing.
DatabasesOMIMOrphanetClinicalTrialsPubMed

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