leukodystrophy leukoencephalopathy with vanishing white matter https://github.com/monarch-initiative/mondo/issues/6216 UMLS:C1858991 CACH/VWM syndrome CACH syndrome MONDO:0800448 Cree leukoencephalopathy myelinosis centralis diffusa CACH/VWM leukoencephalopathy with vanishing WHITE matter DOID:0060868 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. vanishing white matter leukodystrophy SCTID:447351004 GARD:0000231 vanishing White matter leukodystrophy with ovarian failure vanishing White matter leukodystrophy childhood ataxia with central nervous system hypomyelination/vanishing white matter childhood ataxia with diffuse central nervous system hypomyelination leukoencephalopathy with vanishing white matter VWM NCIT:C122664 Orphanet:135 vanishing white matter disease OMIMPS:603896 childhood ataxia with central nervous system hypomyelinization MEDGEN:347037