loading...| Preferred Name | leukoencephalopathy with vanishing white matter | |
| Synonyms |
Cree leukoencephalopathy vanishing White matter leukodystrophy with ovarian failure leukoencephalopathy with vanishing WHITE matter VWM vanishing White matter leukodystrophy CACH/VWM syndrome CACH syndrome vanishing white matter disease vanishing white matter leukodystrophy childhood ataxia with central nervous system hypomyelinization childhood ataxia with central nervous system hypomyelination/vanishing white matter ovarioleukodystrophy CACH/VWM myelinosis centralis diffusa leukoencephalopathy with vanishing white matter CACH childhood ataxia with central nervous system hypomyelination childhood ataxia with diffuse central nervous system hypomyelination |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0800448 |
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| database_cross_reference |
Orphanet:135 GARD:231 SCTID:447351004 NCIT:C122664 OMIMPS:603896 MEDGEN:347037 UMLS:C1858991 DOID:0060868 |
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| 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. |
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| has_exact_synonym |
myelinosis centralis diffusa leukoencephalopathy with vanishing white matter CACH childhood ataxia with central nervous system hypomyelination childhood ataxia with diffuse central nervous system hypomyelination |
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| has_narrow_synonym |
Cree leukoencephalopathy |
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| has_related_synonym |
vanishing White matter leukodystrophy with ovarian failure leukoencephalopathy with vanishing WHITE matter VWM vanishing White matter leukodystrophy CACH/VWM syndrome CACH syndrome vanishing white matter disease vanishing white matter leukodystrophy childhood ataxia with central nervous system hypomyelinization childhood ataxia with central nervous system hypomyelination/vanishing white matter ovarioleukodystrophy CACH/VWM |
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| IAO_0000233 | ||
| id |
MONDO:0800448 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
leukoencephalopathy with vanishing white matter |
|
| notation |
MONDO:0800448 |
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| prefLabel |
leukoencephalopathy with vanishing white matter |
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| skos_exactMatch |
https://omim.org/phenotypicSeries/PS603896 http://purl.obolibrary.org/obo/DOID_0060868 http://purl.obolibrary.org/obo/Orphanet_135 http://identifiers.org/medgen/347037 http://linkedlifedata.com/resource/umls/id/C1858991 |
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| treeView | ||
| subClassOf |