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J Hepatol. 2008 Sep;49(3):474-7. doi: 10.1016/j.jhep.2008.05.027. Epub 2008 Jul 9.

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

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1
Department of Internal Medicine, Ospedale Alessandro Manzoni, Lecco, Italy. an.ronchetti@ospedale.lecco.it

Abstract

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.

PMID:
18644654
DOI:
10.1016/j.jhep.2008.05.027
[Indexed for MEDLINE]
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