Leukoencephalopathy with vanishing white matter (VWM), also known as the CACH syndrome, is a rare autosomal recessive disease, characterized by an onset between 2 and 5 years of age, ataxia, spasticity, and variable optic atrophy. Although the prevalence of leukoencephalopathy with vanishing white matter is unknown, it is the most common inherited childhood leukoencephalopathy. There are five phenotypic forms of VWM, including a congenital form, a subacute infantile form, an early childhood onset form, a late childhood/juvenile onset form, and an adult onset form. The congenital form is the most severe one and it is characterized by encephalopathy, while patients with the adult-onset form have a milder clinical course characterized by behavioral changes, seizures, and dementia. Progression of the disease is typically slow with episodes of neurological deterioration triggered by stressful events such as infection, mild head trauma or other injury, fever, or extreme fright. Diagnosis of VWM is based on the clinical symptoms, MRI, and detection of eIF2B mutations. There is no cure or form of treatment for the VWM disease.
