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Introduction: Cholesteryl Ester Storage Disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), leads to the accumulation of cholesteryl esters and triglycerides in the lysosomes of many tissues. The disease manifests usually in preschool age with hepatosplenomegaly, hepatopathy and hyperlipidemia with the possibility of progression into hepatic fibrosis and cirrhosis. In adulthood premature atherosclerosis may develop. More severe lethal variant is Wolman disease with zero LAL activity. CESD is panethnic with estimated incidence of 1:40 000. Aims: In the Czech Republic between the years 1975-2013 19 patients with CESD and 1 patient with Wolman disease were diagnosed. Here we present the clinical and laboratory data of 6 patients with CESD (age 15.5±4.5 years). Results: Calculated prevalence of CESD in the Czech Republic is 1:322 000. The disease in our 6 patients manifested on average in 5.5 years of age with hepatosplenomegaly, hepatopathy (ALT 1.9±0.4, AST 1.6±0.5 µkat/l) and hyperlipidemia (cholesterol 7±1.5 mmol/l, triglycerides 2.8±1.5 mmol/l). In all four patients with representative sample of liver tissue, liver fibrosis was detected, in one patient with progression into cirrhosis. In all patients the diagnosis of CESD was established enzymatically by the significantly decreased activity of LAL in leukocytes (3-19.5% of average control levels) and by typical histological findings in all liver biopsies with microvesicular steatosis with intralysosomal neutral lipid accumulation. Therapy with intravenous application of recombinant enzyme in two-week intervals is now performed as clinical study in all our six patients. Conclusion: Prevalence of CESD in the Czech Republic contrasts with the estimated prevalence and indicates significant underdiagnosis. The existence of a new treatment option requires early intervention and centralization of care for patients with CESD. [ABSTRACT FROM AUTHOR]

The authors report a rare case of a 12-month old dysmorphic child with severe hypotonia, psychomotor retardation, significant hepatosplenomegaly and numerous, extensive mongolian spots. The patient presented with several congenital defects, such as critical coarctation of aorta, hypospadia and bilateral scrotal hernia. Child frequently suffered of severe bronchitis and bronchopneumonia with acute respiratory insufficiency requiring artificial ventilation. Suspicion of gangliosidosis type I was supported by a „special" clinical picture (extensive mongolian spots rapidly increasing in size and number, psychomotor retardation and hepatosplenomegaly) and it was confirmed by deficient activity of the lysosomal hydrolase, acid β-D-galactosidase. Moreover, abnormal urinary secretion of specific oligosaccharides was found suggesting GM1 gangliosidosis. [ABSTRACT FROM AUTHOR]