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 Cree leukoencehalopathy CACH syndrome vanishing white matter disease 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 vanishing white matter leukodystrophy |
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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_0011380 |
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| altLabel |
Cree leukoencephalopathy vanishing White matter leukodystrophy with ovarian failure leukoencephalopathy with vanishing WHITE matter VWM vanishing White matter leukodystrophy CACH/VWM syndrome Cree leukoencehalopathy CACH syndrome vanishing white matter disease 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 vanishing 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. |
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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 vanishing white matter leukodystrophy |
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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 Cree leukoencehalopathy CACH syndrome vanishing white matter disease childhood ataxia with central nervous system hypomyelinization childhood ataxia with central nervous system hypomyelination/vanishing white matter ovarioleukodystrophy CACH/VWM |
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| label |
leukoencephalopathy with vanishing white matter |
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| prefixIRI |
MONDO:0011380 |
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| prefLabel |
leukoencephalopathy with vanishing white matter |
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| textual 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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| subClassOf |