Clinical and genetic characterization of Chanarin-Dorfman syndrome

被引：51

作者：

Bruno, Claudio ^{[1
]}

Bertini, Enrico ^{[5
]}

Di Rocco, Maja ^{[2
]}

Cassandrini, Denise ^{[1
]}

Ruffa, Giuseppe ^{[3
]}

De Toni, Teresa ^{[3
]}

Seri, Marco ^{[4
]}

Spada, Marco ^{[6
]}

Volti, Giovanni Li ^{[7
]}

D'Amico, Adele ^{[5
]}

Trucco, Federica ^{[1
]}

Arca, Marcello ^{[8
]}

Casali, Carlo ^{[9
]}

Angelini, Corrado ^{[10
]}

DiMauro, Salvatore ^{[11
]}

Minetti, Carlo ^{[1
]}

机构：

[1] Ist Giannina Gaslini, Musc & Neurodegenerat Dis Unit, I-16147 Genoa, Italy

[2] Ist Giannina Gaslini, Pediat Unit 2, I-16147 Genoa, Italy

[3] Univ Genoa, Ist Giannina Gaslini, Pediat Clin Unit, Genoa, Italy

[4] Univ Genoa, Ist Giannina Gaslini, Genet Lab, Genoa, Italy

[5] Bambino Gesu Pediat Hosp, Mol Med Unit, Rome, Italy

[6] Univ Turin, Dept Pediat, I-10124 Turin, Italy

[7] Univ Catania, Dept Biol Chem, Catania, Italy

[8] Univ Roma La Sapienza, Dept Clin & Therapeut Med, Rome, Italy

[9] Univ Roma La Sapienza, Dept Neurol, Rome, Italy

[10] Univ Padua, Dept Neurol, Padua, Italy

[11] Columbia Univ, Med Ctr, Dept Neurol, New York, NY USA

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2008年 / 369卷 / 04期

关键词：

Chanarin-Dorfman syndrome; neutral lipid storage disease; ichthyosis; Jordans' bodies; myopathy;

D O I：

10.1016/j.bbrc.2008.03.010

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1125 / 1128

页数：4

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