Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of the syndrome of sea-blue histiocyte is presented in a 53-year-old Japanese woman, which is the first recorded case in Japan. The patient had hepatosplenomegaly, bleeding manifestations, mild thrombocytopenia, fatty metamorphosis and cirrhosis of the liver, as well as abnormal serum lipid profiles. Her parents were consanguineous and her maternal grandmother with hepatomegaly died of hepatic failure. Histologically, peculiar histiocytes containing numerous, intracytoplasmic sea-blue stained granules on May-Giemsa stain were demonstrated in biopsy materials of the bone marrow, lymph node and liver. The sea-blue granules in these histiocytes proved to have histochemical staining characteristics of lipogenic ceroid-like pigment. Ultrastructurally, these granules showed membrane-bound, pleomorphic inclusions of heterogeneous nature, including electron-dense amorphous or variegatedly osmiophilic, frequently laminated materials. Enzyme cytochemically, localization of acid phosphatase activity was demonstrated in and around the intracytoplasmic inclusions. With regard to the pathogenesis of the sea-blue histiocytes in this case, it may be suggested that the existence of the abnormality in lipid metabolism plays an important role in intralysosomal ceroidogenesis in these histiocytes.
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PMID:Syndrome of the sea-blue histiocyte--the first case report in Japan and review of the literature--. 21 60

Two sisters, now 29 and 24 years old, are described. They presented a congenital storage of, most probably, phospholipids in the histiocytes of the sea-blue type or blue pigmentophages. The granules of these cells showed a PAS positivity and strong positivity for acid phosphatase, but there were negative also for non-specific esterase, naphthol-AS-D-chloracetate esterase and iron acid also for urine mucopolysaccharide. The two cases differed from all the described cases in the absence of hepatosplenomegaly and in the presence of bone changes resembling late spondyloepiphyseal dysplasia or atypical dysostosis multiplex.
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PMID:Sea-blue histiocyte syndrome with bone anomalies. 75 36

The authors describe a case of an adult patient having Gaucher's disease, who had hepatosplenomegaly and pancytopenia. The diagnosis was established by the low level of leukocyte beta-glucosidase and by histology of bone marrow, liver and spleen. The patient had no bone pain, but MRI described characteristic lesions of the femur. Serum acid phosphatase was characteristically elevated. The hypersplenism was reduced after splenectomy. The patient has a daughter with central nervous system dysfunction. Her chromosome examination is normal, but she has lower leukocyte beta-glucosidase activity too. She may have a Gaucher's disease of type II, the acute neuropathic form.
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PMID:[A case of adult Gaucher disease]. 140 99

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.
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PMID:Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. 158 41

Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.
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PMID:Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. 212 Apr 45

A case of large granular lymphocyte (LGL) leukemia with ascites and CNS involvement was reported. A 39-year-old Japanese female was admitted to our hospital in March, 1987 because of high fever. Her clinical and hematological features were characterized by generalized lymphadenopathy, marked hepatosplenomegaly, high serum LDH level (3,257 mU/ml), marked leukocytosis (71,000/microliters) with 74% LGLs and bone marrow infiltration with 57% LGLs. Despite of chemotherapy, ascites, retroperitoneal mass and CNS involvement developed and she died of sepsis after three months. LGLs from the patient's blood, marrow and ascites, stained positively for acid phosphatase. These LGLs were E rossete+ and Fc (IgG) receptor+ and were positive for CD2, OKM1, HLA-DR and Leu11, but were negative for CD1, CD3, CD4, CD8 and Leu7 as well as for terminal deoxynucleotidyl transferase activity. The natural killer activity against K562 target cells was high and was significantly augmented after stimulation by recombinant human interleukin 2. These LGLs also demonstrated normal antibody-dependent cytotoxicity activity. Cytogenetic study on bone marrow cells and ascitic cells revealed clonal chromosomal abnormalities. These clinical, hematological, immunological and cytogenetic findings suggest that this patient had a neoplastic proliferation of natural killer cells.
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PMID:[CD3-, OKM1+, Leu7-, Leu11+ large granular lymphocyte leukemia with ascites and CNS involvement]. 247 53

A 46-year-old woman was admitted because of palpitation and conjunctival jaundice. Physical examination revealed hepatosplenomegaly and purpura without lymphadenopathy. Blood count showed 4.7 g/dl hemoglobin with increased reticulocytosis. The platelet count was 1.5 X 10(4)/microliters and the leukocyte count was 6,000/microliters with 17% abnormal mononuclear cells (hairy cells). Hairy cells had nuclei of frequently folded shape and abundant cytoplasma with irregular edges on blood films. The hair-like cytoplasmic projections of the cells were clearly seen under the phase-contrast microscopy. Hairy cells were strongly positive for tartrate resistant acid phosphatase. Bone marrow aspiration was unsuccessful. The biopsy specimens showed small patchy and scattering infiltrations by hairy cells. Surface marker studies of hairy cells revealed that they were strongly positive for SmIg (IgG kappa). They also reacted with alpha B 1, alpha Tac, alpha Leu-M 5 monoclonal antibodies and a rabbit anti-hairy cell serum (alpha HC-M). 53% of hairy cells were shown to react with alpha B 1 and alpha OKT 11 simultaneously by double labelling. The southern blot analysis of peripheral blood mononuclear cells showed IgH chain genes rearrangement and germ line patterns of T-cell receptor genes. Hemolysis was promptly disappeared after blood transfusion. Moreover, the red blood cells, platelets and leukocytes have spontaneously returned to normal levels with disappearance of circulating hairy cells and palpable spleen one year after admission.
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PMID:[Hairy cell leukemia of European-American type with dual T and B-cell phenotype]. 279 1

We reported a case of TMD with transient increase of tetrasomy-21 cells in a phenotypically normal newborn. The patient was admitted to the St. Marianna University Hospital due to hepatosplenomegaly on the 7th days after birth. Hematological findings on admission revealed remarkable leukocytosis (168,300/microliters) with 79% blasts. Immunological studies of the blasts showed a positive reaction for platelet associated antigens, KOR-P77, AN50, TP80 and a pan-T antigen, TP40. Cytochemically blasts were strongly positive for acid phosphatase, positive for alpha NAE and weakly positive for PAS. The platelet peroxidase reaction was observed in rough endoplasmic reticulum of blast cells. Both immunological and cytochemical findings suggested that the blasts were of megakaryocyte lineage. Chromosomal analysis of the blasts showed 48, XX, + 21, +21 (21 tetrasomy). After chemotherapy with PSL and 6MP, bone marrow showed a complete remission. But we thought it was spontaneous remission because PSL and 6MP were not effective to acute megakaryocytic leukemia (AMKL). Bone marrow cells were karyotypically normal on the 67th day of life when abnormal blasts were not observed in the bone marrow.
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PMID:[Transient myeloproliferative disorder (TMD) with transiently increased tetrasomy-21 cells in a phenotypically normal newborn]. 281 Jul 85

A 62-year-old man was admitted to our hospital with exertional dyspnea. On admission, neither hepatosplenomegaly nor lymphadenopathy were noted. Laboratory data revealed anemia (Hb, 4.8 g/dl), leukopenia (2,800 microliters) and a normal platelet count (21 X 10(4)/microliters). The immature blast cells in the peripheral blood were 15%, which increased to 32% during his clinical course. On cytochemical studies, the blast cells had no staining with peroxidase, alpha-naphthyl-butyrate esterase and PAS, although acid phosphatase was positive. More than 58% of the blasts were identified as being of megakaryocytic lineage by platelet peroxidase and by tests with monoclonal GP IIb/IIIa antibody. Bone marrow biopsy disclosed marked fibrosis. However, the patient constantly had normal counts of platelets ranging from 21 X 10(4) to 63 X 10(4)/microliters. This case provides evidence that the megakaryocytic leukemias can be categorized into two types, which are characterized by either undifferentiated or differentiated megakaryocytic leukemia cells.
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PMID:[Megakaryocytic leukemia with thrombocytosis]. 281 Jul 95

Three cases of juvenile chronic myeloid leukemia (JCML) are reported. The patients were aged 3-4.5 years and presented with generalized lymphadenopathy, hepatosplenomegaly, anemia, thrombocytopenia, elevated white blood cell count with monocytosis, and high fetal hemoglobin level. Philadelphia chromosome was absent in two cases studied. The bone marrow showed myeloid hyperplasia with increased monocytoid cells and blasts. Biopsy or postmortem material available in two cases revealed malignant infiltration of lymph nodes, liver, spleen, lungs, intestines, and skin. The neoplastic cells ranged from cells with irregular nuclei possessing nuclear grooves to large blastic cells with round to lobulated nuclei and prominent nucleoli. They showed weak staining for acid phosphatase and nonspecific esterase and exhibited the immunophenotype EBM11+KiM1+KiM6+KiM8+CD4+HLADR+ S-100 protein+. The neoplastic cells of JCML therefore share features of dendritic cells and mononuclear phagocytes. The authors' findings show that JCML is a unique histiocytic malignancy in which S-100 protein is a useful marker.
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PMID:Juvenile chronic myeloid leukemia. A malignancy of S-100 protein-positive histiocytes. 317 74


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