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. (C) 2008 Elsevier Inc. All rights reserved.
Clinical and genetic characterization of Chanarin-Dorfman syndrome / Claudio, Bruno; Enrico, Bertini; Maja Di, Rocco; Denise, Cassandrini; Giuseppe, Ruffa; Teresa De, Toni; Marco, Seri; Marco, Spada; Giovanni Li, Volti; Adele, D'Amico; Federica, Trucco; Arca, Marcello; Casali, Carlo; Corrado, Angelini; Salvatore, Dimauro; Carlo, Minetti. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - 369:4(2008), pp. 1125-1128. [10.1016/j.bbrc.2008.03.010]
Clinical and genetic characterization of Chanarin-Dorfman syndrome
ARCA, Marcello;CASALI, Carlo;
2008
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. (C) 2008 Elsevier Inc. All rights reserved.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
