Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 24-year-old Japanese man presented with dyskeratosis congenita (DC, Zinsser-Cole-Engman syndrome) complicated by non-cirrhotic portal hypertension, signet ring carcinoma of the rectum and Pneumocystis carinii pneumonia. At the age of 9 years, he was diagnosed as having DC on the basis of typical clinical manifestations including atrophic lingual papillae, hyperpigmentation of the skin, thrombocytopenia, and ophthalmological abnormalities. A few years later pancytopenia and splenomegaly developed. At 24 years, signet ring carcinoma of the rectum was detected but could not be resected because of the severity of the pancytopenia. Death was due to respiratory failure from P. carinii pneumonia. At autopsy the case illustrated several unique findings for DC, including non-cirrhotic portal hypertension, atrophy of frontal lobe and markedly slender folia of the cerebellum and superimposed infections with herpes zoster virus and P. carinii. Striking lymphocyte depletion and atrophy of lymphoid parenchyma in lymph nodes, tonsils, spleen, gastrointestinal tract, or thymus were seen histologically. The morphological picture supports the suggestion that there is a defect in the cell-mediated immune system in patients with DC, although immunoglobulin levels in the blood are normal. The cell-immune deficiency is a major factor in the poor prognosis.
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PMID:Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. 216 77

A 47-year old man had hypersplenism from massive splenomegaly, the cause of which was undetermined for 2 years. He was initially asymptomatic though there was mild pancytopenia. However, 18 months after presentation he manifested both clinical and haematological deterioration, almost succumbing to sepsis. Splenectomy finally provided a definite diagnosis of follicular lymphoma and also restored his blood counts to within normal range.
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PMID:Splenic lymphoma with hypersplenism--a case report. 218 55

A 31-year-old woman with Philadelphia (Ph) chromosome-positive chronic myeloid leukaemia (CML) underwent allogenic bone marrow transplantation during accelerated phase. Non-T-cell-depleted marrow from a male sibling mismatched at one Class 2 histocompatibility locus was infused after conditioning with total body irradiation and intravenous cyclophosphamide. Cyclosporin and methotrexate were given for prevention of graft-versus-host disease (GVHD). Prompt engraftment occurred with donor karyotype cells, followed by transient moderate acute GVHD. However, by day 60 after BMT, haematological relapse occurred with increasing splenomegaly, leucocytosis, increasing marrow fibrosis, and cytogenetic mosaicism, consisting of 47% donor metaphases with 53% Ph-positive host metaphases, some containing additional structural changes. Thirty days later further cytogenetic progression was evident. A slowly progressive fungal pneumonia concurrently present was treated with intravenous amphotericin and gradual reduction of cyclosporin. Subsequently, without further cytotoxic chemotherapy, pancytopenia and bone marrow hypoplasia developed, and on day 144 only donor karyotype marrow cells were seen. Chromosomes have remained of donor type on subsequent occasions, and the patient has a normal performance status 25 months after BMT. The patient's course illustrates that factors operating after allogeneic BMT contribute to longterm control of CML. The factors potentially responsible for this spontaneous remission, after early relapse, are discussed.
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PMID:Spontaneous complete remission of chronic myeloid leukaemia following haematological relapse after allogeneic bone marrow transplantation. 228 87

The reactive or virus-associated haemophagocytic syndrome (RHS) has been described in association with several different infections and is regarded as clinically and pathologically distinct from malignant histiocytosis. A case is described of this syndrome in a 30-year-old HIV-antibody positive homosexual male who presented with fever, pancytopenia, lymphadenopathy, and massive splenomegaly. The fever and haematological abnormalities resolved following splenectomy, and the patient remains well after 12 months. Prominent histiocytic haemophagocytosis was seen in both the spleen and an abdominal lymph node. Exhaustive tests failed to demonstrate any infectious agent other than human immunodeficiency virus, indicating this to be a case of this syndrome occurring in association with HIV infection.
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PMID:Reactive haemophagocytic syndrome in human immunodeficiency virus infection. 229 85

We report a series of seven patients with reactive hemophagocytic syndrome, which was quite characteristic of its etiological spectrum. Infections were the leading cause, among them a case associated with HIV and another one with Salmonella enteritidis (a hitherto unreported association). The clinical findings consisted of fever, hepatomegaly, splenomegaly, lymphadenopathy, rash and pancytopenia. The diagnosis was carried out by bone marrow aspiration-biopsy except in two patients who were diagnosed at autopsy. The difficulty of the differentiation from malignant histiocytosis is discussed: one case of hemophagocytic syndrome due to diphenylhydantoin toxicity (the second reported one in the literature) was histologically undistinguishable from it. We think that, in any etiology, hemophagocytic syndrome is a reactive syndrome with variable intensity. The need for extensive microbiological investigation even in cases of histiocytosis of neoplastic appearance is emphasized.
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PMID:[Reactive hemophagocytic syndrome: analysis of a series of 7 cases]. 232 64

Hairy cell leukemia (HCL), a well-recognized chronic lymphoproliferative disorder, is frequently characterized by pancytopenia, monocytopenia, splenomegaly and marrow fibrosis, which typically leads to an unsuccessful bone marrow aspiration (dry tap). Patients with a high white cell count without neutropenia and/or monocytopenia, with an aspirable and hypercellular marrow, splenomegaly and neoplastic cells with hairy cell features have been recently recognized and classified as HCL variants. We report here the clinical, hematological and immunological features of 7 such cases. All patients presented splenomegaly with a high leukocyte count; 2 were anemic and only 1 thrombocytopenic. Five patients were treated with alpha-Interferon (alpha-IFN) but 4 failed to achieve any significant response; two of these were subsequently splenectomized and successfully treated with Chlorambucil. Splenectomy, followed by Chlorambucil, was performed at diagnosis in the remaining 2 cases, both of which achieved a partial response and are alive and well. Six out of the 7 patients are still alive. The recognition of these peculiar patients is also important because they most often do not respond to alpha-IFN, while splenectomy, followed by Chlorambucil, may be a reasonable therapeutic option for them.
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PMID:Hairy cell leukemia variant: a morphologic, immunologic and clinical study of 7 cases. 233 88

Between 1 January 1980 and 31 July 1988, 62 patients with chronic lymphocytic leukaemia (CLL) or malignant non-Hodgkin's lymphoma (NHL) were splenectomized for splenomegaly and presumed hypersplenism. All patients except one had splenomegaly (mean (s.d.) weight 1585(872) g, range 150-4300 g) and 34 had massive splenomegaly (greater than 1500 g). Forty-nine patients had platelet counts less than 100 x 10(9)/l and 16 patients had anaemia with haemoglobin levels less than 10 g/dl. White cell counts were less than 3 x 10(9)/l in six NHL patients. Fifteen patients had bicytopenia, and three NHL patients had tricytopenia. The selected group of 62 patients underwent splenectomy largely because of failure to respond to medical therapy (39 patients) or inability to tolerate or start adequate chemotherapy because of very low blood counts (11 patients). There was one postoperative death, and a 29 per cent morbidity rate. The response rate was 89 per cent in the first month after splenectomy and 39 patients (63 per cent) had a continuing complete response with a median follow-up of 26 months (range 3-96 months). Twelve patients (10 with CLL) received no further therapy after splenectomy. Seven patients failed to respond and 15 relapsed after splenectomy. These 22 patients could be distinguished on the basis of: (1) lower average preoperative platelet counts (P less than 0.007), postoperative platelet counts (P less than 0.001), and postoperative rise in platelets (P less than 0.004); (2) lower average spleen weight (P less than 0.052); (3) preoperative chemotherapy (P less than 0.044). However preoperative and postoperative platelet counts were the only two variables selected by stepwise regression analysis (P less than 0.05 and P less than 0.01, respectively). Bone marrow failure did not preclude complete response after splenectomy. Long-term survivors emerged from the group of patients with continuing complete response. Of the seven patients who failed to respond, five died with a median survival of 4 months, and of the 15 patients who relapsed after splenectomy, 13 died, with a median survival of 6 months after relapse and 18 months after splenectomy. Thus, splenectomy may be an effective palliation for both CLL and NHL patients with splenomegaly and hypersplenism.
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PMID:Splenectomy for hypersplenism in chronic lymphocytic leukaemia and malignant non-Hodgkin's lymphoma. 234 Mar 97

A 63-year-old white man had a history of recurrent pneumonia, pancytopenia, and splenomegaly when the diagnosis of hairy cell leukemia was made on bone marrow biopsy examination. Splenectomy confirmed that diagnosis and his pancytopenia moderately improved. Three years following the diagnosis, the patient developed an upper abdominal mass involving the stomach wall that was found to be an anaplastic "large cell" neoplasm. Palliative radiotherapy was started, but the patient died 2 months later. Cytochemical studies of the anaplastic gastric neoplasm revealed cytoplasmic tartrate resistant acid phosphatase activity. Electron microscopy showed no epithelial differentiation. These observations suggest that the gastric neoplasm represented an evolution of hairy cell leukemia into a more aggressive tumor analogous to the transformation that occurs in other B-cell neoplasms.
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PMID:Anaplastic neoplasm in a patient with hairy cell leukemia. 241 86

We report a case of acute myelofibrosis. This is a rare myeloproliferative disorder characterized by pancytopenia, minimal or absent anisopoikilocytosis, bone marrow fibrosis with hyperplasia and immaturity of the three main cellular lines with megakaryocyte predominance, absence of splenomegaly and rapidly fatal course. We discuss its relationship with acute megakaryocytic leukemia, as its blast elements correspond to megakaryocytes when ultrastructural and antifactor VIII immunoperoxidase techniques are used; these techniques disclose alpha granules and cell demarcating membranes.
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PMID:[Acute myelofibrosis: apropos of a case with immunocytochemical and ultrastructural studies]. 249 79

The patient is a 39 year-old Japanese male who had traveled to Southeast Asia from March 14, 1987 and returned on April 2. On April 3 and 5, he had a high fever with chills and he was admitted to our hospital. Despite initial treatment with antibiotics, a high fever over 39 degrees C appeared with a 48 hour periodicity. On the 8th day after admission, malarial parasites were identified on the peripheral blood smear after repeated trials. Combined with a raised serum antibody titer, Plasmodium vivax malaria was diagnosed. He was successfully treated with the sulfadoxine 500 mg and pyrimethamine 25 mg (Fansidar) and body temperature was normalized after the 12th day. More interestingly, the patient showed pancytopenia without splenomegaly. The bone marrow aspiration revealed hypoplasia of erythroblasts, granulocytes and megakaryocytes. Because of this pancytopenia in the peripheral blood and hypoplasia of the bone marrow which improved after recovery from malarial infection, it was indicated that they were caused by the malarial infection. Generally, it is considered that anemia in malarial patients is caused by destruction of the blood cells by parasites and/or hypersplenism and compensatory hyperplasia of the bone marrow is seen. On the contrary, this case showed pancytopenia accompanied with hypoplasia of the bone marrow probably due to the malarial infection suggesting a new aspect of pathogenesis in the hematological abnormality of the malarial infection.
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PMID:[A case of Plasmodium vivax malaria complicated with pancytopenia due to hypoplasia of the bone marrow]. 250 94


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