Leukoencephalopathy with vanishing white matter:: an adult onset case.

Abstract

Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder also known as childhood ataxia with central hypomyelination (CACH). Typically, the onset is in late infancy or early childhood with spasticity, cerebellar ataxia, and a relatively mild mental impairment.1 The course is chronic progressive with episodes of rapid deterioration after infection and minor head trauma. MRI shows a diffuse abnormality of the cerebral white matter with variable cerebellar atrophy mainly affecting the vermis. With time, there is evidence of white matter rarefaction leading to cystic degeneration. Increasing portions of the cerebral white matter vanish …