Preferred Label : CACH syndrome;
ICD-11 definition : CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM
(Vanishing White Matter) is a recessive autosomal leukoencephalopathy characterized
by 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, a diffuse involvement of the white matter on cerebral MRI with cavitation,
and neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy.;
ICD-11 synonym : Vanishing white matter disease;
Origin ID : 1574637700;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM
(Vanishing White Matter) is a recessive autosomal leukoencephalopathy characterized
by 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, a diffuse involvement of the white matter on cerebral MRI with cavitation,
and neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy.
