Özet:

Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders. This pathology is linked with LIPA gene impairing mutations on chromosome 10 in locus 10q24-q25, coding lysosomal acid lipase enzyme (cholesterol ester hydrolase). The lysosomal acid lipase enzyme is involved in cellular fat metabolism, thus causing hepatic, vascular, nervous system, and adrenal glands damage. Case presentation. We report the case of a six-year-old boy with cholesteryl ester storage disease, who was admitted to the hospital with physical retardation, hepatosplenomegaly, impaired lipid profile, revealing an increased very-low-density lipoprotein cholesterol level and decreased high-density lipoprotein cholesterol level, dyslipidaemia, and hypercholesterolemia with highly increased atherogenic index, elevated bilirubin and aminotransferases. Conclusions. Severe hepatic impairment may occur in patients with cholesteryl ester storage disease in the absence of replacement therapy with acid lipase fermentation. The possibility of a timely diagnosis raises the likelihood of a quality treatment and prolongation of life in patients with lysosomal storage diseases. Keywords: lysosomal acid lipase deficiency, cholesteryl ester storage disease, children, lipid metabolism disorders.

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