What’s behind CACH syndrome?
CACH syndrome stands for Childhood Ataxia with Central Nervous System Hypomyelination. Today, the name leukoencephalopathy with vanishing white matter (VWM) is preferred. It is a genetic disease of the leukodystrophy family and it is one of the most common leukodystrophies, with a prevalence of about 1 in 80,000. It is one of the hypomyelinating leukodystrophies secondary to astrocyte damage. VWM disease displays a progressive degradation of the white matter in the brain.