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Rinsho Shinkeigaku = Clinical Neurology Jan 1990Neville and coauthors (1973) reported several cases of neurovisceral storage disease with vertical supranuclear gaze paresis, ataxia and other central nervous disorders....
Neville and coauthors (1973) reported several cases of neurovisceral storage disease with vertical supranuclear gaze paresis, ataxia and other central nervous disorders. This disease is classified into Niemann-Pick disease type C because of the presence of foamy cells or sea-blue histiocytes in bone marrow, and the accumulation of sphingomyelin, cholesterol and other glycosphingolipids. In this paper, we reported a rare case of neurovisceral storage disease with severe horizontal supranuclear ophthalmoplegia and sea-blue histiocyte in bone marrow. The patient was a 9-year-old boy. He was hospitalized for unstable gait. The neurological examination revealed severe horizontal supranuclear ophthalmoplegia, moderate ataxia of four extremities and trunk, and mild dystonia of neck and four limbs on walking and standing. The ocular movement in the vertical direction was less impaired and his mentality was almost normal. The bone marrow aspiration showed a few sea-blue histiocytes. The activities of fibroblast lysosomal enzymes including sphingomyelinase were normal. The rectal biopsy revealed many foamy cells in mucous membrane and submucosa. The cell had PAS-positive and acid phosphatase-positive substances, which showed rose-red metachromasia with Feyrter's thionin method. But these abnormal cells were never stained by Sudan black B. These histochemical reactions were compatible with those of Neville's neurovisceral storage disease (Lake, 1983). Therefore we supposed the pathogenesis of this case was the same as that of Neville's cases. In this case, the horizontal supranuclear ophthalmoplegia was a unique symptom.
Topics: Bone Marrow; Child; Foam Cells; Histiocytes; Humans; Intestinal Mucosa; Male; Nervous System; Niemann-Pick Diseases; Ophthalmoplegia; Rectum; Viscera
PubMed: 2331823
DOI: No ID Found -
European Journal of Histochemistry : EJH Sep 2009We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant...
We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a potential cytochemical diagnostic pitfall in the diagnosis of Niemann Pick disease.
Topics: Acid Phosphatase; Adolescent; Female; Humans; Isoenzymes; Niemann-Pick Disease, Type B; Sea-Blue Histiocyte Syndrome; Tartrate-Resistant Acid Phosphatase
PubMed: 19864213
DOI: 10.4081/ejh.2009.183 -
American Journal of Hematology Dec 2004
Topics: Adult; Biopsy, Needle; Bone Marrow; Female; Humans; Purpura, Thrombocytopenic, Idiopathic; Sea-Blue Histiocyte Syndrome
PubMed: 15558791
DOI: 10.1002/ajh.20248 -
British Journal of Haematology Sep 2002
Topics: Adult; Autoimmune Diseases; Bone Marrow Cells; Cells, Cultured; Female; Granulocyte Colony-Stimulating Factor; Humans; Immunoglobulin G; Neutropenia; Receptors, IgG; Sea-Blue Histiocyte Syndrome
PubMed: 12199768
DOI: 10.1046/j.1365-2141.2002.03658.x -
Revista Medica de Chile May 1989A young pregnant woman presented with splenomegaly and a hemorrhagic syndrome. A persistent alteration of several coagulation tests was demonstrated. Large foamy...
A young pregnant woman presented with splenomegaly and a hemorrhagic syndrome. A persistent alteration of several coagulation tests was demonstrated. Large foamy pigmented macrophages were shown by bone marrow aspiration. The histopathologic findings are consistent with the sea blue histiocyte syndrome, a benign type of lipid storage disease.
Topics: Adult; Female; Humans; Pregnancy; Sea-Blue Histiocyte Syndrome
PubMed: 2519167
DOI: No ID Found -
Clinical Genetics Sep 1984An adult patient is described with hepatomegaly and sea-blue histiocytes in the bone marrow. A diagnosis of cholesterol ester storage disease was established following...
An adult patient is described with hepatomegaly and sea-blue histiocytes in the bone marrow. A diagnosis of cholesterol ester storage disease was established following enzyme and lipid analyses on liver biopsy and cultured skin fibroblasts. Acid esterase activity was deficient (approx. 5% of controls) in liver and fibroblasts using [14C]-triolein or 4-methylumbelliferyl palmitate as substrates. Cholesterol ester levels were raised about 70-fold in liver, whereas triglyceride levels were only marginally raised. Marked accumulation of cholesterol esters was also demonstrated in cultured fibroblasts. Clinically, the patient responded favourably to phenobarbitone treatment. However, this was not reflected in liver acid esterase or lipid levels.
Topics: Adult; Cells, Cultured; Cholesterol Esters; Chromatography, Thin Layer; Fibroblasts; Humans; Lipid Metabolism, Inborn Errors; Liver; Male; Naphthol AS D Esterase; Phenobarbital; Sea-Blue Histiocyte Syndrome; Skin; Triglycerides
PubMed: 6478639
DOI: 10.1111/j.1399-0004.1984.tb04367.x -
Archives de L'Institut Pasteur de Tunis 1982
Comparative Study
[Comparative study of 3 types sphingolipidosis: Gaucher's disease, Niemann-Pick disease and the "sea-blue" histiocyte syndrome: cytology, ultrastructure and cytochemistry].
Topics: Cytoplasm; Diagnosis, Differential; Gaucher Disease; Histiocytes; Histocytochemistry; Humans; Inclusion Bodies; Niemann-Pick Diseases; Phospholipids; Sphingolipidoses; Syndrome
PubMed: 6301393
DOI: No ID Found -
Virchows Archiv : An International... May 1999Splenic involvement by a light chain deposition disease (LCDD) associated with sea-blue histiocytosis occurred in a 55-year-old man presenting with LCDD of the kidney...
Splenic involvement by a light chain deposition disease (LCDD) associated with sea-blue histiocytosis occurred in a 55-year-old man presenting with LCDD of the kidney without myeloma. Lambda light chain deposits were demonstrated by immunohistochemistry in vessel walls and along the ring fibres of the red pulp sinuses. Accumulation of sea blue histiocytes in the cords was also present. Stiffness of the walls of the red pulp sinuses resulting from light chain deposits may have induced accumulation and destruction of circulating blood cells. Lipid catabolism with production of ceroids may have resulted in lipidic histiocytosis with a sea blue histiocyte pattern.
Topics: Humans; Immunoglobulin Light Chains; Male; Middle Aged; Paraproteinemias; Rupture, Spontaneous; Sea-Blue Histiocyte Syndrome; Spleen; Splenic Rupture
PubMed: 10389632
DOI: 10.1007/s004280050368 -
Hunan Yi Ke Da Xue Xue Bao = Hunan Yike... 1997
Topics: Adult; Humans; Male; Sea-Blue Histiocyte Syndrome
PubMed: 10073006
DOI: No ID Found -
East African Medical Journal Jun 2001
Topics: Child, Preschool; Humans; Male; Sea-Blue Histiocyte Syndrome
PubMed: 12002107
DOI: No ID Found