Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

Kristensson, Krister; Sourander, Patrick

doi:10.1136/jnnp.29.2.113

Cited by 41 publications

(3 citation statements)

References 14 publications

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“…Sea blue histiocytes have been also described in association with a wide variety of diseases, including such lysosomal and lipid metabolic defect disorders as Batten's disease, Tay Sachs disease [4], Wolman's disease [5,6], and Niemann-Pick (N-P) disease [3,6]. Diseases characterized by a rapid cell turnover such as lymphoma and leukemia [6-lo], iron deficiency anemia [ll], and sickle cell anemia [6,12], may also show an accumulation of sea blue histiocytes in tissues.…”

Section: Introductionmentioning

confidence: 99%

Adult Niemann‐Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays

Landas¹,

Foucar²,

Sando³

et al. 1985

American J Hematol

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We present the clinical, pathologic, and metabolic findings of an adult woman with debilitating coronary artery disease and hepatosplenomegaly who was discovered to have multiorgan infiltration by sea blue histiocytes. A diagnosis of sea blue histiocyte (SBH) syndrome was made and no further workup performed. The patient suffered from progressive heart failure and sepsis following coronary artery bypass surgery and died 9 months after presentation. Tissues examined at autopsy showed pronounced infiltrates of both granular sea blue histiocytes and foamy, vacuolated histiocytes, which were morphologically compatible with Niemann-Pick cells. Ultrastructural examination of these cells revealed lamellar myelin-like figures as described in Niemann-Pick (N-P) disease. Fibroblast enzyme assay studies and liver lipid analyses performed after the patient's death revealed pronounced sphingomyelinase deficiency and a lipid profile diagnostic of N-P disease, type B. This case adds further support to the claim that some cases of apparent SBH syndrome actually represent a type of N-P disease.

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Section: Introductionmentioning

confidence: 99%

Adult Niemann‐Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays

Landas¹,

Foucar²,

Sando³

et al. 1985

American J Hematol

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“…The excess of ceroids that gives rise to sea-blue histiocytes has been observed in widely differing diseases, for example in conditions with massive cell destruction, chronic myeloid leukaemia (Sundberg era/., 1964; Kattlove er a/., 1969;Lee& Ellis, 1970;Dosik, Rosner & Sawitsky, 1972), thronibocytopenia (Landing et al^ 1961;Saltzstein, 1961;Hill, Speer & Gedrikoglu, 1963;Dollberg et al., 1965;Quinton, Wurzel & Czernobilsky, 1967;Couderc et al, 1969;Cazal et al, 1971;Quattrin et al, 1972), hyperlipoproteinaemia of type I (Ferrans et ai^ 1971) or type V (Rywlin et al, 1971b), dysUpidosis (Terry, Sperry& Prodoff, 1954;Kristenson & Sourander, 1966;Lowden, Barson& Wentworth, 1970), albinism with hypocholesterolaemia (Maranoff, Fite and Frumin, 1972) and lecithin cholesterol acyltransfcrase deficiency (Jacobsen, Gjone & Hovig, 1972). This feature has been found also in cases of chronic granulomatous disease (Ford et al, 1962;Bartman, van dc Velde & Friedman, 1967) and of rupture of the spleen (Winkler et al, 1969) and in siblings with splenomegaly and neurological disorders (lones et al, 1970;Lake, Stcphans and Stephans, 1970).…”

Section: Electron Microscopic Studiesmentioning

confidence: 99%

Necropsy and ultrastructural findings in histiocytic medullary reticulosis

J¹,

Ferrando²,

Tomás³

et al. 1976

Br J Dermatol

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In a case of histiocytic medullary reticulosis with protracted course and necrotic skin lesions, histological study revealed infiltration of the fat tissue by atypical reticulohistiocytic cells, areas of associated fat necrosis and vascular lesions. Autophagocytosis (phagocytosis of erythrocytes, erythroblasts, platelets, lymphoid cells, and nuclear debris) was found in biopsy specimens of the subcutaneous infiltrates, lymph nodes, and bone marrow, and in necropsy specimens of skin, iliac mesenteric lymph nodes, bone marrow, liver, spleen, and suprarenal glands. Electron microscopy of various viscera showed abnormal histiocytic cells containing multiple phagocytosed erythrocytes and other blood cells in different stages of destruction and digestion. Multi-membranous bodies also were present. Defective lysosomal degradation of intracytoplasmatic ceroids in this condition is postulated.

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“…Nevertheless,Gonatas & Gonatas [13] hav.e only described microscopic findings of cells with distended cytoplasm filled with a granular material. Since the swollen cells were stained with PAS in paraffin embedded tissues, it seems that the stored material is not gangliosides but lipofuscin or related material and the observed changes are probably unspecific[17].O'Brien et al[25] have reported the occurrence of ganglioside G,, in spleen…”

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confidence: 99%

Tay‐Sachs Disease

et al. 1966

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Summary A detailed histological and biochemical study was performed on autopsy material from an advanced case of typical infantile amaurotic idiocy in a non‐Jewish boy. Many nerve cells were distended by accumulated glycolipids, but in others no signs of storage were seen in the cell body while large amounts of lipids had accumulated in balloon‐shaped swellings of the axons at varying distances from the perikaryon, indicating an axonal transport of the gangliosides. The glial cells contained materials which gave a primary fluores cence and had histochemical properties characteristic for lipofuscin. Histochemically the visceral organs did not show any glycolipid storage of the same type as in the nervous system. Chemical analysis showed an aecuniulation in brain of ceramide sialyl‐N‐trihesoside (ganglioside GM2) which has been found in all other typical cases studied. There was a very advanced degeneration of myelin sheathsand most neutralglycolipidsin brain had similar ceramideportion as gangliosicles which suggest an intimate metabolic relationship. In liver and spleen a ganglioside with the same carbohydrate moiety as in brain ganglioside was isolated. Its ceramide portion had a composition that was intermediate between that of gangliosides from the nervous system and from normal liver and spleen. Therefore, it is proposed that one part of the liver gangliosisides was for med in the nervous system and transported to these organs and the other part is formed in situ. The finding of Tay‐Sachs ganglioside with the same fatty acids as in norinal liver gangliosides suggests that Tay‐Sachs disease is a generalized disorder. The enzymic lesion in Tay‐Sachs disease is discussed. It is stated that a lack of a glycolipid β‐N‐acetylgalactosaminidase is still the most plausible explanation for the biochemical changes in this disease.

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Occurrence of lipofuscin in inherited metabolic disorders affecting the nervous system

Cited by 41 publications

References 14 publications

Adult Niemann‐Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays

Adult Niemann‐Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays

Necropsy and ultrastructural findings in histiocytic medullary reticulosis

Tay‐Sachs Disease

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