leukoencephalopathy with vanishing white matter 5

info · Genetic

A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.

Signs and symptoms

Progressive neurologic deterioration
Decreased CSF asialotransferrin to transferrin ratio
Megalencephaly
Coma
Dilated third ventricle
Lateral ventricle dilatation
Loss of ambulation
Abnormal cerebral white matter morphology

Also known as: Cree leukoencephalopathy