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Clinical and genetic characterization of Chanarin-Dorfman syndrome |
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| Authors: | Bruno Claudio Bertini Enrico Di Rocco Maja Cassandrini Denise Ruffa Giuseppe De Toni Teresa Seri Marco Spada Marco Li Volti Giovanni D'Amico Adele Trucco Federica Arca Marcello Casali Carlo Angelini Corrado Dimauro Salvatore Minetti Carlo |
| Institution: | a Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy b Pediatric II Unit, Giannina Gaslini Institute, Genova, Italy c Pediatric Clinic Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy d Laboratory of Genetics, Giannina Gaslini Institute, University of Genova, Genova, Italy e Molecular Medicine Unit, Bambino Gesù Hospital, Rome, Italy f Department of Pediatrics, University of Torino, Torino, Italy g Department of Biological Chemistry, University of Catania, Catania, Italy h Department of Clinical and Therapeutic Medicine, La Sapienza University, Rome, Italy i Department of Neurology, La Sapienza University, Polo Pontino, Rome, Italy j Department of Neurology, University of Padova, Padova, Italy k Department of Neurology, Columbia University Medical Center, New York, NY, USA |
| 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. |
| Keywords: | Chanarin-Dorfman syndrome Neutral lipid storage disease Ichthyosis Jordans&rsquo bodies Myopathy |
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