*5.4.3 Vanishing white matter disease*

Vanishing White Matter Disease (VWM) is an autosomal recessive leukoencephalopathy, most often with onset in childhood. The classic phenotype is characterised by chronic progressive neurological deterioration, especially cerebellar ataxia, with additional episodes of rapid deterioration after minor head trauma and febrile infections possibly leading to coma or death [80]. MRI shows a diffuse cerebral white matter abnormality, beginning in the presymptomatic stage. Subsequently, the affected white matter disappears and is replaced by fluid (**Figure 3**) [80].
