Studies of Storage Disease Glycogens

Nuclear inclusion bodies seen in human liver cells may appear in light microscopy as deposits of fat or glycogen resulting from various diseases such as diabetes, hepatitis, cholestasis or glycogen storage disease. These deposits have been also encountered in experimental liver injury and in our animals subjected to nutritional deficiencies, drug intoxication and hepatocarcinogens. Sometimes these deposits fail to demonstrate the presence of fat or glycogen and show PAS negative reaction. Such deposits are considered as viral products.Electron microscopic studies of these nuclei revealed that such inclusion bodies were not products of the nucleus per se but were mere segments of endoplasmic reticulum trapped inside invaginating nuclei (Fig. 1-3).

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The diagnosis of metabolic storage disease in skin biopsies (a light-, electronmicroscopic, and analytical study)

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100084119 ◽

1978 ◽

Vol 36 (2) ◽

pp. 648-649

Author(s):

W. Jurecka ◽

W. Gebhart ◽

H. Lassmann

Keyword(s):

Storage Disease ◽

Hunter Syndrome ◽

Histochemical Demonstration ◽

Sweat Glands ◽

Type I ◽

Storage Material ◽

Scheie Syndrome ◽

Storage Products ◽

Skin Biopsies ◽

Type V

Diagnosis of metabolic storage disease can be established by the determination of enzymes or storage material in blood, urine, or several tissues or by clinical parameters. Identification of the accumulated storage products is possible by biochemical analysis of isolated material, by histochemical demonstration in sections, or by ultrastructural demonstration of typical inclusion bodies. In order to determine the significance of such inclusions in human skin biopsies several types of metabolic storage disease were investigated. The following results were obtained.In MPS type I (Pfaundler-Hurler-Syndrome), type II (Hunter-Syndrome), and type V (Ullrich-Scheie-Syndrome) mainly “empty” vacuoles were found in skin fibroblasts, in Schwann cells, keratinocytes and macrophages (Dorfmann and Matalon 1972). In addition, prominent vacuolisation was found in eccrine sweat glands. The storage material could be preserved in part by fixation with cetylpyridiniumchloride and was also present within fibroblasts grown in tissue culture.

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Mitochondria microcrystals deposition in some inherited diseases of lipid metabolism.

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100082145 ◽

1978 ◽

Vol 36 (2) ◽

pp. 256-257

Author(s):

S. Laoussadi ◽

A. Kahan ◽

G. Aubouy ◽

F. Delbarre

Keyword(s):

Synovial Tissue ◽

Storage Disease ◽

Metabolic Diseases ◽

Uranyl Acetate ◽

List Type ◽

Type Ii ◽

Type Number ◽

Lipid Storage Disease ◽

Thin Sections ◽

Mean Size

Several patients with Fabry's, Gaucher's diseases and hyperlipoproteinemia type II and with arthropatic manifestations were observed.As no histological explanation for these symptoms was available,an ultrastructural study of synovial tissue was done to establish an anatomoclinical relation.Material and Methods :synovial membrane samples were obtained by needle biopsies of the knee from three patients with arthropatic manifestations of each disease.They were fixed in 5% glutaraldehyde, postfixed in 1% osmium tetraoxyde and embedded in Epon 812. Thin sections coloured by uranyl acetate and lead citrate were observed with an Elmiskop I Siemens electron microscope.Two important phenomena were observed in synovial tissue:Specific patterns of each lipid storage disease,which are now well known.In all the three metabolic diseases, hydroxyapatite-like crystals were found. They are characterized by their intramitochondrial localization, without any relation with cristae,an anarchic disposition and a mean size of 550 A.Crystals may be found also free in the cytoplasm of synoviocytes Some micrographs suggest an evolution in four steps :a. mitochondria with only a few microcrystalsb. mitochondria stuffed with these structuresc. disruption of mitochondria membranesd. microcrystals appear free in the cytoplasm

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