Family case of lysosomal acid lipase deficiency

Abstract

Lysomal acid lipase deficiency is a rare inherited metabolic disorder and is characterized by the accumulation of cholesteryl esters and triglycerides in many tissues due to a deficiency of lysosomal acid lipase. We report a family case of the disease in a girl aged 5 years and 2 months and her younger brother 3 years. The disease was accompanied by moderate hepatomegaly from birth, serum aminotransferase increased later, and dyslipidemia was observed. An elder child underwent a liver biopsy. Morphological examination of the liver showed microvesicular steatosis with a distinct tendency to the formation of micronodular cirrhosis and cholesterol crystals in hepatocytes. The diagnosis was confirmed by a decrease in the activity of acid lipase in leukocytes and by mutational analysis of the LIPA gene.