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Revista Medica de Chile Sep 1991The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non...
The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non saturated, oxidated, polymerized lipids is observed; ceroids of lipofuscin, glycophospholipids and sphingomyelin, like bulky granules 1 to 3 u in diameter, turn blue with May Grunwald staining, orange reddish with PAS and black with Sudan III and osmic acid. The sea-blue histiocytes are preferably located at the bone marrow, liver and spleen and less frequently in lymph nodes, lungs and some other organs. The prognosis is variable: fatal in the central nervous system location, relatively mild in cases of spleen and bone marrow location. The possibility of complicating hepatic cirrhosis and/or pulmonary fibrosis is always present. Seven cases are described in this paper, 4 of them family related. Acute myelomonocytic leukemia in one case and histioimmunoblastic lymphoma in another were complications not yet reported in the literature.
Topics: Adolescent; Adult; Bone Marrow; Child; Diagnosis, Differential; Family Health; Female; Histiocytes; Humans; Liver Cirrhosis; Male; Microscopy, Electron; Middle Aged; Pulmonary Fibrosis; Sea-Blue Histiocyte Syndrome; Staining and Labeling
PubMed: 1726957
DOI: No ID Found -
British Journal of Haematology Nov 1996Bone marrow examination revealed a lipid-laden histiocytosis in seven patients undergoing long-term total parenteral nutrition necessitated by extensive short-bowel...
Bone marrow examination revealed a lipid-laden histiocytosis in seven patients undergoing long-term total parenteral nutrition necessitated by extensive short-bowel surgical resection. Clinical abnormalities occurred during this treatment which required bone marrow examination. These included hepatosplenomegaly and peripheral blood cytopenia; the median time to the detection of these abnormalities was 64 months. The most striking change within the bone marrow was the presence of many pigment-laden histiocytes which had the typical morphology of sea-blue histiocytes seen in the so-called idiopathic sea-blue histiocyte syndrome. The occurrence of sea-blue histiocytosis in the bone marrow in association with long-term parenteral nutrition for short-bowel syndrome has not, to our knowledge, been reported previously and should now be considered in the differential diagnosis of bone marrow sea-blue histiocytosis.
Topics: Adult; Aged; Bone Marrow; Fat Emulsions, Intravenous; Humans; Macrophages; Middle Aged; Parenteral Nutrition; Sea-Blue Histiocyte Syndrome
PubMed: 8904878
DOI: 10.1046/j.1365-2141.1996.d01-1907.x -
Lancet (London, England) Apr 1972
Topics: Adult; Bone Marrow; Cytoplasmic Granules; Female; Hepatomegaly; Histiocytes; Humans; Lipidoses; Liver; Lymph Nodes; Spleen; Splenomegaly; Staining and Labeling
PubMed: 4111274
DOI: 10.1016/s0140-6736(72)90553-3 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Diagnosis, Differential; Humans; Prognosis; Psychomotor Disorders; Sea-Blue Histiocyte Syndrome
PubMed: 11031936
DOI: No ID Found -
Deutsche Medizinische Wochenschrift... Sep 2000
Topics: Adolescent; Adult; Alanine Transaminase; Aspartate Aminotransferases; Child; Female; Humans; Liver; Male; Middle Aged; Prognosis; Sea-Blue Histiocyte Syndrome; Ultrasonography
PubMed: 11075247
DOI: 10.1055/s-2000-7664 -
The New England Journal of Medicine Jan 1970
Topics: Child; Child, Preschool; Chromatography; Female; Glycolipids; Glycosaminoglycans; Hepatomegaly; Histiocytes; Histocytochemistry; Humans; Infant; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver; Liver Cirrhosis; Lymphatic Diseases; Male; Metabolic Diseases; Phospholipids; Purpura, Thrombocytopenic; Sex Factors; Splenomegaly
PubMed: 4242937
DOI: 10.1056/NEJM197001012820101 -
Journal of Clinical Gastroenterology Sep 1992Niemann-Pick disease is a metabolic disorder resulting in accumulation of sphingomyelin in visceral organs. The adult form (type B) is characterized by the sparing of... (Review)
Review
Niemann-Pick disease is a metabolic disorder resulting in accumulation of sphingomyelin in visceral organs. The adult form (type B) is characterized by the sparing of brain involvement, allowing those affected to have a relatively benign course. Although the abnormal lipid accumulation in the liver is commonly recognized, hepatocellular compromise is extremely rare. We describe a patient with adult Niemann-Pick disease who over the course of over 35 years developed hepatic failure and portal hypertension, and we review the literature regarding hepatic involvement in this rare disease.
Topics: Adult; Female; Histiocytes; Humans; Hypertension, Portal; Liver Failure; Niemann-Pick Diseases
PubMed: 1401826
DOI: 10.1097/00004836-199209000-00013 -
Acta Paediatrica Scandinavica Jan 1974
Topics: Adolescent; Biopsy, Needle; Body Height; Body Weight; Bone Marrow; Child, Preschool; Female; Growth Disorders; Hematocrit; Histiocytes; Humans; Intellectual Disability; Liver; Male; Niemann-Pick Diseases; Spleen; Staining and Labeling
PubMed: 4133822
DOI: 10.1111/j.1651-2227.1974.tb04364.x -
La Semaine Des Hopitaux : Organe Fonde... May 1984A case of idiopathic splenomegaly with ceroid histiocytosis--the so-called sea-blue histiocytosis--is reported with reference to the literature. The histological,... (Review)
Review
A case of idiopathic splenomegaly with ceroid histiocytosis--the so-called sea-blue histiocytosis--is reported with reference to the literature. The histological, histochemical and ultrastructural features of stained sea-blue and ceroid-containing macrophages are described and their physiopathological significance is discussed. Attention is drawn to the distinctions, between idiopathic and secondary or associated forms, and the practical value of the pathological diagnosis is emphasized.
Topics: Ceroid; Histiocytes; Humans; Liver; Male; Middle Aged; Sea-Blue Histiocyte Syndrome; Sphingomyelin Phosphodiesterase; Spleen; Splenomegaly
PubMed: 6326324
DOI: No ID Found -
Sangre Feb 1992Four siblings of a large Brazilian kindred are shown to have a variant of Niemann-Pick disease masquerading as the sea-blue histiocyte syndrome. They show a very similar... (Review)
Review
Four siblings of a large Brazilian kindred are shown to have a variant of Niemann-Pick disease masquerading as the sea-blue histiocyte syndrome. They show a very similar clinical and laboratory picture: massive hepatosplenomegaly, low height for age, diffuse interstitial pulmonary infiltration, high levels of serum acid phosphatase and sea-blue histiocytes in the bone marrow. The neurological examination, as well as the retinae and maculae are normal. The high-density lipoprotein serum cholesterolemia ranged from 8.6 to 13.9 mg/dl, much lower than the 5th centile of normal distribution. The AI apolipoprotein concentrations in two siblings (0.29 and 0.44 g/l) were also below the minimal reference level of 0.90 g/l. The histochemical reactions demonstrated that sphingomyelin and ceroid are the accumulating substances in the marrow histiocytes. Electron microscopically, the cytoplasmatic granules of the histiocytes are phagolysosomes which contain scarce amorphous material, loose arranged lamellae, or dense well-organized structures with a fingerprint or fine network pattern. The sphingomyelinase activity in leucocyte extracts ranged from 4.9 to 8.6% and in cultured fibroblast extracts from 7.7 to 10% of simultaneous controls. The activity of other lysosomal enzymes was normal. Accordingly, this variant of Niemann-Pick disease should be classified as chronic nonneuronopathic sphingomyelinase-deficient type. The present data suggest that this variant is inherited as an autosomal recessive character. Our findings support the view that the sea-blue histiocyte syndrome is not an independent entity.
Topics: Adolescent; Adult; Bone Marrow; Brazil; Child; Child, Preschool; Female; Foam Cells; Hepatomegaly; Humans; Lung; Male; Middle Aged; Niemann-Pick Diseases; Sea-Blue Histiocyte Syndrome; Sphingomyelin Phosphodiesterase; Splenomegaly
PubMed: 1585241
DOI: No ID Found