/leukoencephalopathy with vanishing white matter

leukoencephalopathy with vanishing white matter

Rare Disease

MONDO:0800448

Also Known As

CACHchildhood ataxia with central nervous system hypomyelinationchildhood ataxia with diffuse central nervous system hypomyelinationleukoencephalopathy with vanishing white mattermyelinosis centralis diffusaCree leukoencephalopathyCACH syndromeCACH/VWMCACH/VWM syndromeVWMchildhood ataxia with central nervous system hypomyelination/vanishing white matterchildhood ataxia with central nervous system hypomyelinizationleukoencephalopathy with vanishing WHITE matterovarioleukodystrophyvanishing White matter leukodystrophyvanishing White matter leukodystrophy with ovarian failurevanishing white matter diseasevanishing white matter leukodystrophy

Definition

A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.