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 53-year-old male was diagnosed as having ataxic polyneuropathy associated with IgM-kappa monoclonal gammopathy in January 1988. Plasmapheresis and chemotherapy with chlorambucil and Melphalan-Prednisolone were effective for his neuropathy, but hemolytic anemia appeared in February 1989. The diagnosis of low-titer cold agglutinin disease (IgM-kappa) with anti-Pr2 specificity was made. Hemolytic anemia became refractory to high-dose corticosteroids, and fever, hepatosplenomegaly and severe pancytopenia appeared in January 1990. Bone marrow involvement of malignant lymphoma (mu, kappa) was found, and he died of pneumonia and gastrointestinal bleeding after the start of chemotherapy. Postmortem examination revealed a widespread infiltration of malignant lymphoma, diffuse, large cell (B-cell) type. Erythrophagocytic histiocytes also increased in bone marrow, liver, spleen and lymph nodes, as if there were hemophagocytic syndrome associated with lymphoma present. In addition to the high thermal amplitude of cold agglutinin in this case, the systemic activation of histiocytes induced by the development of malignant lymphoma may be responsible for progressive hemolysis and severe pancytopenia.
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PMID:[Anti-Pr2 cold agglutinin disease with polyneuropathy evolving to malignant lymphoma]. 133 64

Three cases of malignant histiocytosis were immunohistochemically studied. The cases included the following three patients: a 38-year-old man, a 44-year-old man, and a girl aged 5 years 9 months. All three patients died within 3 months of hospitalization. They had a high fever (temperature over 38.5 degrees C), lymph node swelling, hepatosplenomegaly, and pancytopenia. Blastoid and hemophagocytic cells proliferated in the bone marrow and lymph nodes, especially in the sinuses of the latter. We diagnosed malignant histiocytosis in the three cases based on clinical features, extremely poor prognoses, and the morphologic features and growth pattern of blastoid and hemophagocytic cells. Blastoid and hemophagocytic cells expressed phenotype Mac-387+/KP1+/lysozyme+/polyclonal CD3+. The Mac-387 and KP1 antigens and lysozyme are markers for monocytes/macrophages, and polyclonal CD3 is a marker for T lymphocytes. Therefore, we suggest that a certain number of cases of malignant histiocytosis have a biphenotypic nature, namely, the T cell and macrophage, although many cases of malignant histiocytosis have been reported as expressing only T-lymphocyte antigens.
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PMID:Malignant histiocytosis. A report of three cases. 133 45

It has been recently demonstrated that the Epstein-Barr virus (EBV) can infect human thymocytes and may be involved in the T cell neoplasms, in addition to African Burkitt's lymphoma, nasopharyngeal carcinoma and Hodgkin's disease. Four distinct clinicopathologic categories of EBV-associated T cell malignancies have been recognized. The angiocentric T cell lymphoma or lymphomatoid granulomatosis involving the nose (or midline lethal granuloma) and skin is frequently EBV-associated. The other 3 groups include angioimmunoblastic lymphadenopathy-like lymphoma, node-based T immunoblastic lymphoma which may contain Reed-Sternberg-like giant cells (Hodgkin's-like lymphoma), and T cell lymphoma resembling malignant histiocytosis. Both the CD4 and CD8 T cell subsets, and a hitherto undefined T lineage lacking CD4/CD8 expression have been involved. The common clinical features are prolonged fever, skin lesions, lymphadenopathy, hepatosplenomegaly, and pancytopenia. Serologic assays suggest that a chronic active EBV infection may exist in most of these patients. The EBV genomes appear to proliferate in clonal and episomal form in the neoplastic cells which show expression of latent membrane proteins. Although an indolent local phase may exist, the clinical course is aggressive for most patients with frequent development of drug resistance to conventional chemotherapy. EBV-associated T cell lymphoma constitutes a separate entity of virus-associated human diseases and opens a potential field to investigate the pathogenesis of EBV-associated human malignancies.
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PMID:Clinicopathological spectrum of Epstein-Barr virus-associated T cell malignancies. 133 23

We report a rare adult case of chronic active Epstein-Barr virus (EBV) infection. A 54-year-old woman was admitted to our hospital with intermittent fever, weight loss, hepatosplenomegaly, pancytopenia and liver disturbance. In serological tests for EBV, anti-virus capsid antigen (VCA)-IgG antibody and anti-early antigen (EA)-IgG antibody were markedly elevated and anti-EBV nuclear antigen (EBNA) antibody was negative. EBV genome was detected in the bone marrow nucleated cells and peripheral lymphocytes by Southern blot hybridization. The patient developed left facial edema, bilateral breast tumor and pneumonia. She died one year after admission in spite of the administration of prednisolone, interferon and acyclovir.
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PMID:Chronic active Epstein-Barr virus infection in an adult. 133 84

Familial hemophagocytic syndrome (FHS) and infection-associated hemophagocytic syndrome (IAHS) usually present with fever, pancytopenia, hepatosplenomegaly, signs of hepatic dysfunction, bleeding diathesis, and neurological manifestations. FHS is almost uniformly fatal, and IAHS is associated with high mortality. The only distinguishing characteristics are lack of family history and association with infection in the latter. Despite this, sporadic cases of FHS and culture-negative examples of IAHS (idiopathic HS) can be difficult to distinguish and the distinction may have important implications for treatment and family planning. We evaluated the immunophenotype of the macrophages (M phi s) in frozen tissue sections from three cases of hemophagocytic syndrome using a very large panel of monocyte/M phi-associated monoclonal antibodies and an immunoperoxidase technique. The clinical and laboratory features suggested that two were examples of FHS (one with strong family history) and that the third was IAHS/idiopathic HS. The results supported the clinical impressions by showing that the antigenic phenotypes of the FHS cases were nearly identical and different from that of the case of presumed IAHS/idiopathic HS. Specifically, M phi s from the FHS cases expressed complement receptors, 1, 2, and 3 (CD35, CD21, and CD11b, respectively), the monocyte antigen CD36, and the "activation" antigens CD25 (IL2-R) and CD30 (Ki-1), while those from the IAHS/idiopathic case did not. These studies also demonstrated that the M phi s in these cases exhibited some phenotypic differences from those in control tissues, that is, expression of the pan-M phi antigen CD14, the M phi subset antigen identified by antibody G16/1, complement receptors, certain monocyte antigens, and M phi "activation" antigens.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Histiocytes in familial and infection-induced/idiopathic hemophagocytic syndromes may exhibit phenotypic differences. 134 82

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

We describe the clinicomorphological features in 33 cases of primary myelodysplastic syndrome classified according to the FAB classification which presented to a single centre over a 12 year period. Presenting features were typically related to pancytopenia although hepatosplenomegaly and granulocytic sarcomas were far more prevalent than in the adult population. Morphological assessment of the peripheral blood and the bone marrow showed seven patients had refractory anaemia (RA), 13 patients had RA with excess of blasts (RAEB), nine patients had RAEB in transformation (RAEB-t) and four patients had chronic myelomonocytic leukaemia (CMML). The overall mean survival was short (9.9 months) in all the subgroups and the leukaemic transformation rate was high. None of the patients scored 0-1 according to the Bournemouth Scoring System; four patients scored 2 whereas 29 patients scored 3 to 4. We conclude that unlike adults, the myelodysplastic syndromes in children run an aggressive clinical course, irrespective of the FAB subtype, and the pathogenesis of these diseases in paediatric practice warrants scientific scrutiny. Intensive chemotherapy such as the one used in de novo-AML lead to complete remission in some children and these early results suggest that this should be the treatment of choice in paediatric MDS.
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PMID:Primary myelodysplastic syndrome in children: the clinical experience in 33 cases. 141 17

A patient presenting initially with bilateral uveitis was admitted 6 weeks later to the Department of Internal Medicine "A" because of fever, chills, and pancytopenia. Physical examination, ultrasonography and CT scan revealed hepatosplenomegaly only, without lymphadenopathy. A bone marrow trephine biopsy showed areas with a dense infiltrate of abnormal cells, displaying many mitotic figures. Some of the cells resembled better differentiated histiocytes and contained hemosiderin pigment or phagocytosed erythrocytes. Immunohistological tests confirmed the diagnosis of malignant histiocytosis (MH). A survey of the literature revealed two other cases with uveitis and MH.
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PMID:Uveitis, a presenting symptom of malignant histiocytosis. 142 34

We studied 12 children who presented with a recently recognized syndrome. The salient features of this new syndrome were recurrent fever; hepatosplenomegaly; pancytopenia; blond, golden to silvery gray hair; hypopigmented skin, progressive white matter demyelination; and early death. Seven patients died, four with severe central nervous system (CNS) involvement, and three with bone marrow failure and sepsis. Cutaneous anergy to recall antigens was present in all patients. Other immunological abnormalities were poor antibody responses; deficient T-cell responses to phytohemagglutinin (PHA), concanavalin A (Con-A), and allogeneic lymphocytes; hyperresponsiveness of B lymphocytes to pokeweed mitogen; and variable phagocytic defects. Histopathologic examination of the hair and skin biopsies showed characteristic distribution of melanin with melanocytes present in normal numbers but with fewer short dendritic processes. Langerhans' cells were present in normal numbers in some patients and sparse in others. This syndrome seems to cluster into two tribes from two different geographical areas in the Arabian Peninsula. In the eight families studied, 12 other siblings and close relatives were found to be affected. The mode of inheritance in this syndrome is that of an autosomal recessive pattern. We propose the term "PAID syndrome" to identify patients with the above features.
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PMID:Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. 149 Jun 25

Osteoporosis is a disorder characterized by osteoclastic dysfunction. The bones of afflicted patients become sclerotic and show modeling defects resulting in either a decrease or obliteration of the marrow cavity and resultant pancytopenia. Other clinical manifestations include bony deformities, cranial nerve palsies from bony overgrowth, pathological fractures, osteomyelitis, and hepatosplenomegaly secondary to extramedullary hematopoiesis. In the skull, the diploic space is usually decreased or obliterated. Absent or decreased marrow space is observed on plain films. On MRI, the marrow cavity very likely will be obliterated with low signal intensity on T1- and T2-weighted images. We report a case of osteopetrosis in which the diploic space is markedly increased, giving a hair-on-end appearance resembling thalassemia major. Perhaps some local factor within the diploic space prevented the expected osteoclastic dysfunction, allowing remodeling and expansion of the cranial vault.
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PMID:Case report 746: Osteopetrosis. 152 37


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