Cholesteryl ester storage disease (CESD) is a rare, autosomal recessively inherited disorder resulting from deficient activity of
lysosomal acid lipase (LAL). LAL is the key
enzyme hydrolyzing
cholesteryl esters and
triglycerides stored in lysosomes after
LDL receptor-mediated endocytosis. Mutations within the LIPA gene locus on chromosome 10q23.2-q23.3 may result either in the always fatal
Wolman disease, where no LAL activity is found, or in the more benign disorder CESD with a reduced enzymatic activity, leading to massive accumulation of
cholesteryl esters and
triglycerides in many body tissues. CESD affects mostly the liver, the spectrum is ranging from isolated
hepatomegaly to
liver cirrhosis. Chronic
diarrhea has been reported in some pediatric cases, while calcifications of the adrenal glands, the hallmark of
Wolman disease, are rarely observed.
Hypercholesterolemia and premature
atherosclerosis are other typical disease manifestations.
Hepatomegaly as a key finding has been reported in all 71 pediatric patients and in 134 of 135 adult cases in the literature. We present a 13-year-old boy with mildly elevated liver
enzymes in the absence of
hepatomegaly, finally diagnosed with CESD. Under pravastatine treatment, the patient has normal laboratory findings and is clinically unremarkable since 5 years of follow-up. To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without
hepatomegaly, suggesting that this diagnosis can be easily missed. It further raises the question about the natural course and the
therapy required for this oligosymptomatic form.