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  • 1
    Electronic Resource
    Electronic Resource
    Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood (1990)
    Springer
    Virchows Archiv 416 (1990), S. 357-365 
    Details
    ISSN: 1432-2307
    Keywords: Acid lipase deficiency ; Adult variant ; Hepatocytic lipofuscin ; Ceroid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01605297
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  • 2
    Electronic Resource
    Electronic Resource
    A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency (1996)
    Springer
    Virchows Archiv 429 (1996), S. 305-309 
    Details
    ISSN: 1432-2307
    Keywords: Gaucher disease ; Amyloidosis ; Chitotriosidase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were dominated by extensive pulmonary and cardiac amyloid infiltration. No Gaucher cells were found in the lungs. Aside from a glucocerebrosidase deficiency the patient was also deficient in chitotriosidase, an enzyme whose activity is usually greatly increased in the serum of Gaucher patients. Analysis of mutations in the glucocerebrosidase gene revealed heterozygosity for N370S and D409H mutations. The normal amount of glucocerebrosidase was found in the spleen by Western blotting. We suggest that amyloidosis should be considered in the differential diagnosis of severe cardiopulmonary disease in Gaucher patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00198347
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  • 3
    Electronic Resource
    Electronic Resource
    Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease (1990)
    Springer
    Virchows Archiv 417 (1990), S. 449-455 
    Details
    ISSN: 1432-2307
    Keywords: Fabry's disease ; Cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous cardiomegaly (1100 g), cardiac storage of ceramide trihexoside (CTH) of the same intensity as in classical cases of generalized Fabry's disease (11 mg lipid/g wet weight) restricted to cardiocytes. Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage. Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide. It was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Alpha — galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range. The diagnostic difficulties in this monosymptomatic novel variant of Fabry's disease are stressed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01606034
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  • 4
    Electronic Resource
    Electronic Resource
    Improved one-dimensional thin-layer chromatography for the separation of phospholipids in biological material
    Amsterdam : Elsevier
    Journal of Chromatography B: Biomedical Sciences and Applications 533 (1990), S. 297-299 
    Details
    ISSN: 0378-4347
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/S0378-4347(00)82217-3
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  • 5
    Electronic Resource
    Electronic Resource
    Niemann-Pick disease type C (1985)
    Springer
    Acta neuropathologica 66 (1985), S. 325-336 
    Details
    ISSN: 1432-0533
    Keywords: Niemann-Pick disease type C ; Neuronal storage ; Sphingomyelin ; Neutral glycosphingo-lipids ; Sphingomyelinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A complex neuropathological study of two cases of Niemann-Pick disease (NPD) type C (NPDC) revealed some novel features in the chemical pathology of the neuronal storage. Lipid histochemistry showed the presence of a lipid which met the criteria of a neuronal glycosphingolipid. Sphingomyelin (SM) was not detected in the neurones in any of the regions examined. Lipid chemical analysis of total extracts and of partially purified lysosomal fraction of the brain cortex showed markedly increased levels of neutral ceramide hexosides especially of glucosylceramide and ceramide dihexoside (mostly of its slower band). Phospholipids were not significantly increased. Monosialogangliosides GM2 and GM3 were increased only slightly. The storage process displayed the well known fine structure and was accompanied by a marked secondary increase in some lysosomal enzyme activities. There was neuroaxonal dystrophy (NAD) of considerable intensity and extent. Many spheroids contianed masses of degenerated organelles and neurofilaments in various proportions and displayed variable activities of acid phosphatase, nonspecific esterase and dehydrogenases. There was marked brain atrophy accompanied in one case by severe demyelination. Enzyme studies revealed partial decrease of sphingomyelinase (SMase) and betaglucosidase activities in cultured fibroblasts, as well as lack of cathodic SMase activity on isoelectric focusing. No defects of these enzymes were found in the brain samples. The findings are regarded as significant since they indicate a biochemical defect in which SM is not primarily involved and which may thus be fundamentally different from that in type A of NPD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690966
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  • 6
    Electronic Resource
    Electronic Resource
    Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 118-119 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00735411
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  • 7
    Electronic Resource
    Electronic Resource
    Niemann-Pick disease type C with enhanced glycolipid storage (1984)
    Springer
    Virchows Archiv 402 (1984), S. 307-317 
    Details
    ISSN: 1432-2307
    Keywords: Niemann-Pick disease type C ; Glycolipid storage ; Sphingomyelin ; Neuroaxonal dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case of infantile neurovisceral disease was classified according to the morphological and chemical analysis of fixed tissue as a chemically different type of Niemann-Pick disease (NPD) type C, with glycolipids dominating the storage process. The diagnosis was reached on the basis of massive accumulation of neutral glycolipids in visceral storage elements (hepatocytes and macrophages) as an outstanding feature of lipid histochemistry. Chemical lipid analysis corroborated the findings by detecting a manyfold increase of glucosyl ceramide, lactosyl ceramide, ceramide trihexoside and GM3 ganglioside. In addition, macrophages contained variable quantities of sphingomyelin. The brain showed slightly increased quantities of lactosylceramide (Slower fraction) and glucosyl ceramide. Apart from the classical neuronal storage changes there was also marked neuroaxonal dystrophy. In terms of quality, the glycolipid spectrum was comparable to that of NPD type C, in terms of quantity, the changes were consistent with those in so-called lactosyl-ceramidosis, which, however, was reclassified as NPD type C only recently. In our view, the present case is the second published observation of lactosylceramidosis classifiable as a glycolipid (GL) variety of NPD type C in which the normally considerable tendency to glycolipid storage is further enhanced while the storage of sphingomyelin is less expressed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00695084
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  • 8
    Electronic Resource
    Electronic Resource
    Testis – a novel storage site in human cholesteryl ester storage disease (2000)
    Springer
    Virchows Archiv 436 (2000), S. 82-87 
    Details
    ISSN: 1432-2307
    Keywords: Key words CESD ; Lysosomal acid lipase deficiency ; Storage distribution ; Testis ; Leydig cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  A case of long-standing subclinical cholesteryl ester storage disease (CESD) manifesting as hyperlipoproteinaemia type IIb without any hepatomegaly is described. The patient underwent surgical vascular interventions because of accelerated atherosclerosis, which dominated his middle age. CESD was an incidental finding when a liver biopsy specimen was taken because liver malignancy was suspected; the patient’s condition proved to be due to a cholangiocarcinoma, which led to his death at the of age 52. The autopsy showed moderate-intensity storage in the set of cells characterized by constitutional high-level receptor-mediated LDL endocytosis (hepatocytes, adrenal cortical cells) and also revealed storage in the Leydig cells. The severity with which histiocytes were affected varied regionally, ranging from minimal detectable storage or none at all (gut, lymph nodes, spleen) to extreme lysosomal expansion by cholesteryl ester liquid crystals (bone marrow) or by ceroid (lung, testicular stroma), or by both (liver). The density of the histiocytic population did not correlate with the degree to which parenchymal cells were affected except in the testicular stroma, where it was prominent. The patient was a mixed heterozygote for the G934A and ΔC673-5 mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00008203
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