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Updated: Jul 3, 2026

Analysis of Fluorescent-Stained Lipid Droplets with 3D Reconstruction for Hepatic Steatosis Assessment
Published on: June 2, 2023
Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation
Anna Ronchetti1, Daniele Prati, Maria Grazia Pezzotta
1Department 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.
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