title: Clinical and genetic characterization of Chanarin-Dorfman syndrome.
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.
authors.affiliation: Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Ruffa
authors.forename: Teresa
authors.initials: T
authors.lastname: De Toni
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
authors.forename: Giovanni
authors.initials: G
authors.lastname: Li Volti
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Federica
authors.initials: F
authors.lastname: Trucco
authors.forename: Marcello
authors.initials: M
authors.lastname: Arca
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004950:Esterases / Q000235:genetics*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D008049:Lipase / Q000235:genetics*; D008064:Lipidoses / Q000175:diagnosis / Q000235:genetics*; D008055:Lipids / Q000032:analysis; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009154:Mutation; D013577:Syndrome; D014280:Triglycerides / Q000378:metabolism*
chemical_list: D008055:Lipids; D014280:Triglycerides; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase