Vanishing White Matter Disease

Vanishing white matter disease (VWD), an autosomal recessive leukoencephalopathy, is associated with defects in translation initiation factor eIF2B. The disease can be caused by mutations in any of five genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, located on chromosomes 12, 14, 1, 2, and 3, respectively.

The disease affects young children, but may also occur in juveniles and adults. It presents with progressive cerebellar ataxia, pyramidal signs, optic atrophy, seizures, and intellectual decline. In female patients, ovarian dysfunction has been reported. MRI demonstrates myelin losses and cystic cavitations in the white matter.

Grossly, the cerebral, cerebellar, and brainstem white matter are gelatinous, cystic, and cavitated. His-tological changes in the white matter consist of pallor, thinning, vacuolation, and loss of myelin. Characteristically, the number of oligodendrocytes is markedly increased in some areas and reduced in others. Axonal losses are variable, and macrophage reaction and astro-cytosis are not prominent.

0 0

Post a comment