Leukoencephalopathy with vanishing white matter (EIF2B1 to EIF2B5)
Autozomálně recesivní
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.
Co se diagnózou změní
Knowing the diagnosis allows families to prevent and promptly treat fever and infections and avoid head injury, which can trigger episodes of decline.
Známé také jako
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
Zahrnuje 9 příbuzných podtypů ↓Skrýt podtypy ↑
- 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
