Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis.

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. LEARNING POINTS Hepatosteatosis can be associated with genetic disease and not just diet.Lipid storage disease should be considered in patients presenting with liver disease with hypoglycaemia, muscle weakness and a family history.Lipid storage disease is a rare heterogeneous genetic condition that has no specific treatment and requires further research.