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

A 3-month-old male infant presented with pallor, hepatomegaly (4.5 cm), splenomegaly (1.5 cm), anaemia (Hb 6 g/dl) and thrombocytopenia (16 X 10(9)/l). A liver biopsy was diagnostic for Langerhans cell histiocytosis (histiocytosis X). The patient's lymphocytes, co-cultured with neonatal lymphocytes, were positive for virus-like particles without reverse transcriptase activity. The hepatomegaly diminished after 6 months and a second liver biopsy showed decreased histiocytic infiltration. A second viral blood culture remained negative. After 14 months, the hepatomegaly had disappeared completely and there were no more abnormal haematological or clinical findings.
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PMID:Spontaneous healing of Langerhans cell histiocytosis (histiocytosis X). 326 42

A 3 month-old infant vaccinated with BCG at birth presented with granulomatous hepatitis with BCG isolated in the liver. Splenomegaly, infiltrates in both pulmonary apices and hilar adenopathies were simultaneously present. No immune deficiency could be found. Complete recovery followed specific polychemotherapy. Parenchymal calcifications appeared in the liver, spleen, lungs and mesenteric ganglia.
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PMID:[Generalized BCG infection, with a favorable outcome, in a 3-month-old immunocompetent infant]. 354 34

A 3-year-old spayed female ferret was examined because of mild icterus and massive splenomegaly. Pancytopenia was diagnosed and was unaffected by blood transfusion or corticosteroid therapy. Splenectomy resulted in resolution of clinical signs, with survival up to 20 months after surgery. Histologic examination of the spleen revealed areas of splenic necrosis and severe extramedullary hematopoiesis. The final diagnosis, based on exclusion of other causes of splenomegaly and pancytopenia, was idiopathic hypersplenism.
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PMID:Idiopathic hypersplenism in a ferret. 398 1

The suppression of erythropoiesis by lymphocytes from patients with a T cell lymphoproliferative syndrome and pure erythrocyte aplasia has been previously demonstrated. To study the nature of the suppressor cell and possible genetic restriction of this suppression, we investigated a patient with severe anemia, splenomegaly, lymphocytosis, and erythroid aplasia. A 3-mo course of low-dose daily oral cyclophosphamide achieved a complete remission for over 12 mo. The surface phenotype of his lymphocytes was analyzed by means of antibodies to lineage, differentiation, and activation-specific surface antigens. The cells expressed mature T cell antigens T3, T8, and T11, while lacking T1. Immature T cell, B cell, and the monocyte-specific antigen Mo2 were absent, while Mo1, a monocyte-associated antigen not normally expressed on T cells, was present. T10 and Ia expressed as activation antigens were also present. The cells, cryopreserved at diagnosis, were thawed and co-cultured in plasma clot with patient remission marrow samples at T cell/bone marrow ratios of 1:1 and 2:1. There was nearly 90% suppression of erythroid colony-forming unit expression and 60% suppression of erythroid burst-forming unit expression at 2:1 T cell to bone marrow ratios and somewhat less suppression at 1:1. Granulocyte/macrophage progenitor expression was unaffected. Erythroid progenitor differentiation in the marrows of two HLA identical siblings was similarly suppressed. The cells were co-cultured with the marrows of nine nonrelated donors to investigate the potential genetic restriction of this suppression. Colony suppression equal to that observed in the marrow of the patient and his siblings was found in studies of two partially HLA identical individuals. No suppression was detected in marrow co-cultures of two entirely HLA dissimilar individuals. These results show that suppression of erythropoiesis by a unique subset of T8, Mo1, Ia-positive lymphocytes isolated from a patient with lymphocytosis and erythrocyte aplasia is genetically restricted.
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PMID:Evidence for genetic restriction in the suppression of erythropoiesis by a unique subset of T lymphocytes in man. 622 45

A 3-year old child with juvenile chronic myeloid leukaemia received a T cell-depleted BMT from a male unrelated donor. There was early graft failure associated with increasing splenomegaly and hypersplenism. Splenectomy was performed 53 days post-transplant and was followed by autologous marrow recovery with return of leukaemia. A second unrelated donor BMT was performed 9 months later using T cell-replete marrow from a similarly matched female donor. Grade 2 GVHD involving the skin and gut responded to treatment with steroids. Chimaerism was assessed using Y-specific polymerase chain reaction (PCR) and microsatellites. Samples taken at the time of splenectomy showed no donor marrow engraftment but there was significant engraftment in the spleen. Following the second transplant, donor-type haematopoiesis was documented using a panel of microsatellite probes. The patient remains well 6 months after transplant. Splenectomy should be considered prior to transplant in patients with significant splenomegaly and hypersplenism. Partial chimaerism in the spleen, but not bone marrow, post-BMT, has not previously been documented. PCR technology is a useful and highly sensitive way to assess chimaerism post-BMT and is informative in sex-matched cases, whilst the small amount of material required is advantageous in paediatric patients.
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PMID:Successful second unrelated donor BMT in a child with juvenile chronic myeloid leukaemia: documentation of chimaerism using the polymerase chain reaction. 843 16

A 3-year-old Filipino-American child with recurrent fever, splenomegaly, anemia, and thrombocytopenia, was found to have a hemoglobin F level of 76.9%. His reticulocyte count was elevated (4.3%), and erythroblasts were present in his peripheral blood. The child's erythrocytes were microcytic (MCV 66.9 fl) but his serum ferritin level was normal. His bone marrow at initial presentation demonstrated normal cellularity without an increase in blast cells. The disease progressed with worsening anemia, leukocytosis, and thrombocytopenia, with increased blasts in his marrow and the appearance of a mediastinal mass. His liver, spleen, and lymph nodes were found to be infiltrated with myeloblasts, supporting a diagnosis of juvenile myelomonocytic leukemia (JMML). Analysis of the child's Hb F showed a Ggamma/Agamma ratio of 2.2, which was within the characteristic range for JMML. A globin synthesis study using blood reticulocytes showed an alpha/non-alpha globin synthesis ratio of 2.24, typical of severe homozygous beta thalassemia. Southern blot analysis of blood-leukocyte DNA from the patient and his parents demonstrated no apparent abnormality in the beta-globin gene promoter or coding regions. The elevated level of Hb F in this child with JMML appeared to be part of an acquired Cooley's anemia-like hematologic phenotype.
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PMID:Juvenile myelomonocytic leukemia (JMML) with the hematologic phenotype of severe beta thalassemia. 959 Jan 52

The authors describe a rare tumor with overlapping features of true histiocytic sarcoma and interdigitating dendritic cell sarcoma occurring in infancy. A 3-month-old boy presented with hepatosplenomegaly and abdominal distention. He presented a diagnostic challenge at initial presentation despite extensive investigations. On follow-up at age 16 months he had progressive splenomegaly, thrombocytopenia, and worsening coagulopathy. A diagnosis of histiocytic sarcoma with interdigitating dendritic cell differentiation was established after an open biopsy of liver and spleen. A repeat liver biopsy coupled with splenic biopsy is recommended in young children with unexplained hepatosplenomegaly and thrombocytopenia.
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PMID:Histiocytic sarcoma with interdigitating dendritic cell differentiation. 1559 5

A 3.5-year-old, male, neutered ferret (Mustela putorius furo) was presented with a 3-day history of lethargy and anorexia. Splenic aspirates revealed high numbers of intermediate-sized lymphocytes and Mott cells interpreted as lymphoma with Mott cells. The ferret was euthanized because of a poor clinical prognosis. Postmortem examination revealed markedly enlarged spleen and lymph nodes, with multifocal white nodules in the liver parenchyma. Histologically, the spleen had multifocal large nodules composed of neoplastic lymphocytes with frequent Mott cells. Similar neoplastic cells were present in the sections of liver, lymph nodes, and bone marrow. These cells were cluster of differentiation (CD)3-negative, CD79alpha-positive, and lambda light-chain-positive. Electron microscopy revealed that the cytoplasm of the neoplastic Mott cells had increased, disorganized, dilated, rough endoplasmic reticulum containing electron-dense immunoglobulin. On the basis of cytologic, histopathologic, immunohistochemical, and electron microscopic findings, a malignant B-cell lymphoma with Mott cell differentiation was diagnosed.
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PMID:Malignant B-cell lymphoma with Mott cell differentiation in a ferret (Mustela putorius furo). 2045 31

A 3-year-old female presented with splenomegaly and hypersplenism manifestations, including anemia, thrombocytopenia, and abdominal pain/distention. All common metabolic, hematologic, gastrointestinal, and infectious etiologies for splenomegaly were excluded. Diagnosis of idiopathic splenic peliosis was made and splenectomy was recommended. History revealed that the patient's mother had acquired a nonspecific skin infection during a visit to the Middle East 2 years prior. Serum antibodies and confirmatory PCR testing for visceral leishmaniasis were positive. After treatment with liposomal amphotericin, at 6-month follow-up her hypersplenism manifestations had resolved and her splenomegaly had significantly decreased. Visceral leishmaniasis should be considered in cases of marked splenomegaly, anemia, and thrombocytopenia, especially with a history of visiting an endemic area.
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PMID:Visceral Leishmania as Unusual Cause of Splenic Peliosis in the United States. 2615 23