Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
  • Arda Yavuz
    Department of Gastroenterology, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey https://orcid.org/0000-0001-8577-124X
  • Gökçen Ünverengil
    Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
  • Ayşe Nur Toksöz Yıldırım
    Department of Pathology, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey
  • Hatice Şeyma Maraşlı
    Department of Internal Medicine, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey
  • İlyas Tuncer
    Department of Gastroenterology, Istanbul Medeniyet University, School of Medicine, Istanbul, Turkey

Keywords

Hepatosteatosis, late-onset lipid storage myopathy, lipid storage disease

Abstract

Hepatosteatosis, a common condition, is increasing in prevalence. It is typically associated with diet, alcohol consumption and obesity. In some cases, a rare genetic disease may be the underlying defect. Lipid storage myopathy (LSM) is a genetic disease caused by lipid metabolism defects. LSM often affects the muscles, heart and liver. Coenzyme Q, riboflavin or carnitine replacement can be beneficial in some cases. We describe a patient who presented with liver failure and was unresponsive to treatment.

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    Published: 2020-10-07
    Issue: 2020: Vol 7 No 12 (view)


    How to cite:
    1.
    Yavuz A, Ünverengil G, Toksöz Yıldırım AN, Maraşlı H Şeyma, Tuncer İlyas. Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis . EJCRIM 2020;7 doi:10.12890/2020_001980.