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

Anna Ronchetti, Daniele Prati, Maria Grazia Pezzotta, Daniela Tavian, Roberto Colombo, Francesco Callea, Agostino Colli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)474-477
Number of pages4
JournalJournal of Hepatology
Volume49
Issue number3
DOIs
Publication statusPublished - Sep 2008

Keywords

  • Chanarin-Dorfman syndrome
  • Ichthyosis
  • Non-alcoholic steatohepatitis

ASJC Scopus subject areas

  • Gastroenterology

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