DOI: 10.12890/2020_001980
Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
Authors
ardayavuz55@hotmail.com
Keywords
Hepatosteatosis, late-onset lipid storage myopathy, lipid storage diseaseAbstract
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.
References
- Fu L, Huang M, Chen S. Primary carnitine deficiency and cardiomyopathy. Korean Circ J 2013;43(12):785–792.
- Behin A, Acquaviva-Bourdain C, Souvannanorath S. Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease. Rev Neurol 2016;172(3):231–241.
- Tavian D, Colombo R. Improved cytochemical method for detecting Jordans’ bodies in neutral lipid storage disease. J Clin Pathol 2007;60:956–958.