caa a22 4500 465753299 CHVBK 20180323111840.0 cr unu---uuuuu 170327e19900701xx s 000 0 eng 10.1007/BF01605297 doi (NATIONALLICENCE)springer-10.1007/BF01605297 Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood [Elektronische Daten] Report on two cases with remarks on the nature of the liver storage process [M. Elleder, J. Ledvinová, P. Cieslar, R. Kuhn] Summary: An extremely benign variant of cholesterol ester storage disease (CESD) was diagnosed in two female patients aged 43 and 56 years. In one of them the course was entirely subclinical until a stroke at the age of 47, most probably a complication of secondary hyperlipoproteinaemia. The diagnosis was made accidentally in vivo during extensive examination for concomitant monoclonal gammapathy. The other patient (aged 56), still displays a fairly stable course with minor dyspeptic symptoms. The clinical findings in both patients were confined to moderate well tolerated hepatomegaly, hyperlipoproteinaemia of IIb type and xanthelasmata. Acid lipase activity was markedly deficient in peripheral leukocytes and cultured fibroblasts. These cases represent a rare adult variant the existence of which should be borne in mind in the differential diagnosis of chronic liver disease in advanced age and of hyperlipoporteinaemic states. The diagnostic criteria for the routine clinicopathological steps are summarized with emphasis on a special lipopigment deposition pattern, encompassing inhibition and modification of lipofuscin generation in hepatocytes and an excess of ceroid production in both portal and intralobular histiocytes. The varied ultrastructural appearance of the lysosomal limiting membrane complex is described. Springer-Verlag, 1990 Acid lipase deficiency nationallicence Adult variant nationallicence Hepatocytic lipofuscin nationallicence Ceroid nationallicence Elleder M. 1st Department of Pathology, Faculty of Medicine, Studnickova 2, 128 00, Prague 2, ČSSR aut Ledvinová J. Faculty of Medicine, Laboratory for Proteosynthesis, Prague aut Cieslar P. Faculty of Medicine, 1st Internal Clinic, Prague aut Kuhn R. Division of Pathology, District Hospital, Jihlava aut Virchows Archiv A Springer-Verlag 416/4(1990-07-01), 357-365 0174-7398 416:4<357 1990 416 428 https://doi.org/10.1007/BF01605297 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01605297 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Elleder M. 1st Department of Pathology, Faculty of Medicine, Studnickova 2, 128 00, Prague 2, ČSSR aut NATIONALLICENCE 700 1- Ledvinová J. Faculty of Medicine, Laboratory for Proteosynthesis, Prague aut NATIONALLICENCE 700 1- Cieslar P. Faculty of Medicine, 1st Internal Clinic, Prague aut NATIONALLICENCE 700 1- Kuhn R. Division of Pathology, District Hospital, Jihlava aut NATIONALLICENCE 773 0- Virchows Archiv A Springer-Verlag 416/4(1990-07-01), 357-365 0174-7398 416:4<357 1990 416 428 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer