leukoencephalopathy with vanishing white matter
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.
MONDO:0019046
leukodystrophy
is_a
CACH/VWM
related
CACH/VWM syndrome
related
Cree leukoencephalopathy
narrow
VWM
related
childhood ataxia with central nervous system hypomyelination/vanishing white matter
related
childhood ataxia with diffuse central nervous system hypomyelination
exact
leukoencephalopathy with vanishing white matter
exact
myelinosis centralis diffusa
exact
vanishing white matter disease
related
SPAC4D7.09 SPAC23C11.09 SPAC343.14c SPCC11E10.07c SPAC21E11.06 SPAC8C9.15c