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
Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy.
Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8. doi: 10.1016/j.bbrc.2008.03.010. Epub 2008 Mar 11.
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.
我们描述了7例患有查纳林-多夫曼综合征（CDS）或中性脂质贮积病伴鱼鳞病（NLSDI）患者的临床特征、肌肉病理学特征及分子研究情况，NLSDI是一种多系统甘油三酯贮积病，肌纤维中有大量脂质小滴积聚。所有患者均有先天性鱼鳞病样红皮病、血细胞胞质脂质小滴、轻至重度肝肿大、血清肌酸激酶（CK）水平及肝酶升高。3例患者有肌肉症状，3例有脂肪痢。分子分析鉴定出5个突变，其中3个是新发现的。这些发现扩展了该病的临床和突变谱，并突显了其遗传异质性。
