Clinical and genetic characterization of Chanarin-Dorfman syndrome.
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.
Bruno
Claudio
C
Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy.
Bertini
Enrico
E
Di Rocco
Maja
M
Cassandrini
Denise
D
Ruffa
Giuseppe
G
De Toni
Teresa
T
Seri
Marco
M
Spada
Marco
M
Li Volti
Giovanni
G
D'Amico
Adele
A
Trucco
Federica
F
Arca
Marcello
M
Casali
Carlo
C
Angelini
Corrado
C
Dimauro
Salvatore
S
Minetti
Carlo
C
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*
D008055:Lipids; D014280:Triglycerides; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human; D004950:Esterases; D008049:Lipase