Vanishing white matter disease (CACH syndrome)

Vanishing white matter disease is an inherited disorder, most frequently affecting children, caused by mutations in the genes encoding the subunits of the eIF2B complex. This disease is primarily diagnosed by magnetic resonance imaging (MRI). The diagnosis is confirmed when mutations are found in one of the eIF2B genes. Pathological hallmarks are foamy oligodendrocytes, dysmorphic astrocytes, and the presence of high numbers of glia progenitors that fail to mature. The selective involvement of the white matter is unexplained, and a causal role for reduced eIF2B activity is debatable.