Brain imaging in Kufs disease type B: case reports.
BMC Neurol
; 15: 102, 2015 Jul 04.
Article
em En
| MEDLINE
| ID: mdl-26141065
ABSTRACT
BACKGROUND:
The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined. CASE PRESENTATION We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.CONCLUSION:
White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
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Imageamento por Ressonância Magnética
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Transtornos Cognitivos
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Lipofuscinoses Ceroides Neuronais
Limite:
Adult
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Female
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Humans
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Middle aged
Idioma:
En
Revista:
BMC Neurol
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Itália