Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation

JOURNAL OF HEPATOLOGY

卷:49

Article

Ronchetti, Anna¹  Prati, Daniele^2,3  Pezzotta, Maria Grazia⁴  Tavian, Daniela^5,6  Colombo, Roberto^5,6  Callea, Francesco⁷  Colli, Agostino¹ 

[1] Osped Alessandro Manzoni, Dept Internal Med, Lecce, Italy

[2] Osped Alessandro Manzoni, Dept Transfus Med & Hematol, Lecce, Italy

[3] IRCCS Fdn Policlin, Dept Regenerat Med, Milan, Italy

[4] Osped Alessandro Manzoni, Dept Pathol, Lecce, Italy

[5] Univ Cattolica Sacro Cuore, Lab Human Mol Biol & Genet, I-20123 Milan, Italy

[6] Natl Inst Mol Genet, Milan, Italy

[7] Bambino Gesu Pediat Hosp, Dept Pathol, Rome, Italy

关键词: Chanarin-Dorfman syndrome;    non-alcoholic steatohepatitis;    ichthyosis;   

DOI  :  10.1016/j.jhep.2008.05.027

来源: Elsevier

【 摘 要 】

Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible. (C) 2008 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

【 授权许可】

Free