Department of Gastroenterology, Cumhuriyet University Faculty of Medicine, 58140 Sivas, Turkey.
Clin Res Hepatol Gastroenterol. 2012 Apr;36(2):e34-7. doi: 10.1016/j.clinre.2011.12.007. Epub 2012 Jan 13.
Chanarin-Dorfman syndrome (CDS) is an autosomal recessive neutral lipid storage disease. It is very rare and characterized by ichtiosis, intracellular fat droplets in leucocytes (Jordan anomaly) and involvement of multiple tissues (skeletal muscle, central nervous system, bone marrow, eye and ear) mainly the liver. Our patients were diagnosed as CDS because they had ichtiosis, Jordon anomaly of leucocytes in peripheral blood smear, liver involvement and presence of homozygous 88 insertion C frame shift mutation on exon 4 of ABHD5/CGI-58 gene in genetic analysis. Our cases were two sisters. One of them developed severe steatohepatitis on age 19 and the other one was diagnosed as decompensated cirrhosis when she was 26 years old. We report here a new mutation in comparative gene identification-58 (CGI-58) gene causing syndactyly and steatohepatitis induced early cirrhosis.
先天性中性脂质贮积症（CDS）是一种常染色体隐性遗传的中性脂肪贮积病。该病非常罕见，其特征为鱼鳞癣、白细胞内有脂肪滴（约旦异常）以及多组织受累（骨骼肌、中枢神经系统、骨髓、眼和耳），主要为肝脏。我们的患者被诊断为 CDS，是因为他们患有鱼鳞癣、外周血涂片白细胞中有约旦异常、肝脏受累以及在 ABHD5/CGI-58 基因的外显子 4 上存在纯合 88 插入 C 框移码突变的基因分析结果。我们的病例为两姐妹。其中一人 19 岁时发展为严重的脂肪性肝炎，另一人 26 岁时被诊断为失代偿性肝硬化。我们在此报告一个新的基因突变，该基因突变导致并指畸形和脂肪性肝炎引起的早期肝硬化。
