Leukoencephalopathy with vanishing white matter (EIF2B1 to EIF2B5)
Autosomal recessive
Causes progressive ataxia and spasticity with stepwise decline after stresses such as fever or head trauma; onset ranges from before birth to adulthood, and some women also have early ovarian failure.
What a diagnosis changes
Knowing the diagnosis allows families to prevent and promptly treat fever and infections and avoid head injury, which can trigger episodes of decline.
Also known as
CACH/VWM; CACH/VWM syndrome; childhood ataxia with central nervous system hypomyelination/vanishing white matter; childhood ataxia with diffuse central nervous system hypomyelination; Cree leukoencephalopathy; myelinosis centralis diffusa; vanishing white matter disease; VWM
Includes 9 related subtypes ↓Hide subtypes ↑
- congenital or early infantile CACH syndrome
- juvenile or adult CACH syndrome
- late infantile CACH syndrome
- leukoencephalopathy with vanishing white matter 1
- leukoencephalopathy with vanishing white matter 2
- leukoencephalopathy with vanishing white matter 3
- leukoencephalopathy with vanishing white matter 4
- leukoencephalopathy with vanishing white matter 5
- leukoencephalopathy, progressive, with ovarian failure
