Clinical and genetic characterization of Chanarin-Dorfman syndrome.
Biochem Biophys Res Commun
; 369(4): 1125-8, 2008 May 16.
Article
em En
| MEDLINE
| ID: mdl-18339307
ABSTRACT
We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers. All patients presented with congenital ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Triglicerídeos
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Debilidade Muscular
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Esterases
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Ictiose
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Lipase
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Lipidoses
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article