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 38-year-old man with refractory follicular lymphoma underwent allogeneic BMT from an HLA-identical sibling donor. He had generalized lymphadenopathy, hepatosplenomegaly and lymphoma infiltration of the marrow, all of which disappeared within 3 months following transplantation. Six months post-transplant, progressive hepatomegaly developed in the absence of splenomegaly and lymphadenopathy, and he died from hepatic failure. Autopsy disclosed diffuse large B cell lymphoma of the liver, into which the follicular lymphoma had transformed. Future issues to be investigated should include the optimal timing of allogeneic BMT for low-grade lymphomas.
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PMID:Histologic transformation of follicular lymphoma after allogeneic bone marrow transplantation. 1101 52

We report a case of a 5-year-old girl with EBV-associated hemophagocytic lymphohistiocytosis (EBV-HLH) who underwent cord blood (CB) stem cell transplantation (CBSCT) from an unrelated donor. The patient presented with persistent high-grade fever and hepatosplenomegaly. Because the disease was refractory to immunochemotherapy according to the HLH94 protocol, she received 2.0 x 10(7) CB nucleated cells/kg body weight (BW) after conditioning with BU/CY/etoposide. No acute GVHD developed, using FK506 for prophylaxis. The neutrophil count reached >0.5 x 10(9)/l by day 21 and the platelet count reached >50 x 10(9)/l by day 84. The patient recovered well with sequelae of neurological deficits more than 10 months after receiving CBSCT, without showing evidence of HLH or chronic GVHD. Real-time PCR proved applicable for estimation of the EBV load in PBMC of the patient. We conclude that CBSCT may be indicated for some cases of refractory EBV-HLH, who have no HLA-matched siblings and are therefore dependent on unrelated marrow donors.
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PMID:Successful umbilical cord blood transplantation from an unrelated donor for a patient with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. 1147 48

A 5-month-old male presented with fever, hepatosplenomegaly, leukocytosis with atypical lymphoblasts, anemia and thrombocytopenia. Severe combined imunodeficiency syndrome (T-, B+, NK+), B lymphoproliferative disease and hemophagocytic lymphohistiocytosis triggered by Epstein-Barr virus (EBV) were diagnosed. As his clinical situation deteriorated rapidly, BMT was performed with unmanipulated marrow stem cells from his EBV-positive HLA-identical sister after conditioning with dexamethasone (1.75 mg/kg/day), cyclophosphamide (114 mg/kg) and etoposide (10 mg/kg), with no immunosuppression given post transplant. Engraftment occurred on day 6 with explosive proliferation of donor CD8(+) T cells. The patient died 3 days later from acute respiratory distress syndrome. Autopsy revealed full donor engraftment and no signs of hemophagocytic lymphohistiocytosis or B lymphoproliferative disease. Thus, transplanted T cells can expand very rapidly within days after BMT and clear EBV lymphoproliferative disease and hemophagocytic lymphohistiocytosis.
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PMID:Allogeneic bone marrow transplantation for active Epstein-Barr virus-related lymphoproliferative disease and hemophagocytic lymphohistiocytosis in an infant with severe combined immunodeficiency syndrome. 1196 Feb 73

Post-transplant lymphoproliferative disorder (PTLD) constitutes a serious complication of allogeneic bone marrow transplantation. We describe a case of PTLD in a twenty-six year-old male treated with bone marrow transplantation for aplastic anemia of unknown cause. The patient received unmanipulated marrow graft from his HLA-matched brother. Fifty-one days post transplant he developed progressive enlargement of cervical lymph nodes, followed by hepatosplenomegaly and generalized lymphadenopathy. Polymorphic PTLD was diagnosed basing on the lymph node histopathology, positive EBV detection, flow cytometry and IgH rearrangement studies proving monoclonality (capillary electrophoresis with ABI PRISM 310 Genetic Analyzer). There was no response to anti-CD20 antibody, cessation of immunosuppression, donor lymphocyte infusion and cytostatic therapy. The patient died on the 65th day of multiple organ failure. We discuss the diagnostics and management of PTLD in the setting of bone marrow transplantation.
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PMID:Fatal post-transplant lymphoproliferative disorder following allogeneic bone marrow transplantation for aplastic anemia. 1201 24

Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only curative option for primary hemophagocytic lymphohistiocytosis (HLH), a rare disease of infants and young children, characterized by recurrent fever, hepatosplenomegaly, and cytopenia. We report a case of successful engraftment and stable full-donor chimerism in a patient with HLH who underwent peripheral allogeneic CD34-selected HSCT. The donor was his 1-antigen-HLA-mismatched grandmother. After a conditioning regimen based on the combination of thiotepa, fludarabine, melphalan, and rabbit antilymphocyte serum, the patient received a megadose of 26.3 x 10(6)/kg of CD34(+) peripheral blood cells. Neutrophil (>0.5 x 10(9)/L) and platelet (>50 x 10(9)/L) engraftment was observed on days +16 and +12, respectively, and the patient was discharged home on day +24. No acute or chronic GVHD was observed. Infectious complications were the main causes of re-hospitalization in the first year after transplantation, but no significant morbidity was observed thereafter. Thirty-two months after HSCT, the patient is alive and well, still in complete clinical remission of his underlying disease with a durable engraftment, normal NK activity and full donor chimerism. This case suggests that a fludarabine-based conditioning regimen and CD34-selected peripheral allogeneic HSCT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor.
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PMID:Successful engraftment and stable full donor chimerism after myeloablation with thiotepa, fludarabine, and melphalan and CD34-selected peripheral allogeneic stem cell transplantation in hemophagocytic lymphohistiocytosis. 1255 20

Dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticulate skin pigmentation, nail dystrophy, mucosal leucoplakia, and bone marrow failure. Pancytopenia is difficult to manage in patients with this disorder. We describe a 13-month-old-boy who presented with reticulate skin lesions, paleness, and hepatosplenomegaly. Anemia and leukopenia developed by the age of 43 months. The patient was treated with granulocyte-macrophage colony-stimulating factor (GM-CSF) (5 microg/kg/d, subcutaneously) for 19 months and erythropoietin (150 U/kg 3 days in a week, subcutaneously) for 8 months, with excellent neutrophil and hemoglobin response. Recurrent infections were not developed after starting GM-CSF, and packed red blood cell transfusion was not given to the patient after starting erythropoietin. GM-CSF combined with erythropoietin may be used in the treatment of bone marrow failure in patients with DC without an HLA-identical donor.
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PMID:Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin. 1267 52

A 36-year-old woman was referred to our hospital because of leukocytosis in June 2000, and was admitted to our hospital and diagnosed as having adult T-cell leukemia/lymphoma (ATL; acute type). Complete remission was achieved with eight courses of CHOP therapy, but ATL relapsed and she was readmitted to our hospital in September 2001. Laboratory examination showed elevated levels of serum LDH and soluble IL-2 receptor, and hypercalcemia. CT examinations showed swelling of the abdominal lymph nodes and hepatosplenomegaly. CHOP therapy improved the symptoms, but recrudescence soon occurred. After two courses of salvage therapy which resulted in no remission, the patient received an allogeneic peripheral blood stem cell transplant (allo-PBSCT) from her HLA-matched sibling donor after preconditioning with BU + CY in January 31, 2002. Cyclosporin A (CsA) and short-term MTX were used to prevent GVHD. Bone marrow engraftment was prompt and acute GVHD was not found. Two months later, recurrence was seen in the form of subcutaneous tumors, but the tumors spontaneously disappeared following CsA withdrawal. At the time of writing, eight months after the transplant, remission has been maintained. A graft-versus-leukemia (GVL) effect may have been the curative action in this case.
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PMID:[Cyclosporin A withdrawal causes spontaneous remission of recurrent subcutaneous tumors after allogeneic peripheral blood stem cell transplantation for adult T-cell leukemia/lymphoma]. 1269 82

A female baby with a severe thrombocytopenia at 18 x 10(9)/l was born to a 29-year-old (gestation 2/partum 2) mother. Scattered petechiae were present on her legs, arms, chest and face, but there was no bleeding, infection, fever or hepatosplenomegaly. A platelet antibody screening immunocapture test was positive, which was performed on the mother's serum 3, 12 and 38 days after delivery, but no platelet-specific antibodies were found by the monoclonal-antibody-specific immobilization of platelet antigen assay. The baby's platelets and lymphocytes and the father's platelets reacted strongly with the HLA antibodies present in the mother's serum. The neonate was treated with intravenous human immunoglobulin (Tegeline), 1 g/kg per day) 1, 2 and 3 days after delivery. The platelet count rose from 18 x 10(9)/l on day 0 to 37 x 10(9)/l on day 3 and to 227 x 10(9)/l on day 12. No platelet transfusion was needed. Several factors which developed hereafter lead us to think that this neonatal alloimmune thrombocytopenia is due to the transplacental passage of maternal HLA antibodies to the baby.
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PMID:HLA antibodies and neonatal alloimmune thrombocytopenia. 1515 14

Hepatosplenic gammadelta T-cell lymphoma is an uncommon pediatric disease and is associated with an aggressive and often fatal course. The authors describe the case of an 8-year-old girl who presented with transaminitis and hepatosplenomegaly. Liver biopsy and peripheral blood flow cytometry were diagnostic of hepatosplenic gammadelta T-cell lymphoma. She was treated with multi-agent chemotherapy with cyclophosphamide, vincristine, prednisone, doxorubicin, and high-dose methotrexate but failed to achieve durable remission. She underwent an allogeneic bone marrow transplant from her HLA-identical brother with a preparative regimen including total body irradiation and cyclophosphamide. She is currently alive and has remained in remission for 30 months after transplantation. The authors also review the literature for similar pediatric cases.
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PMID:Allogeneic bone marrow transplantation for chemotherapy-refractory hepatosplenic gammadelta T-cell lymphoma: case report and review of the literature. 1628 93

Omenn syndrome is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and failure to thrive, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma. Investigations revealed a marked neutropenia and lymphopenia and the absence of a thymus. Genetic studies showed RAG 1 mutations. He was successfully treated with an HLA identical bone marrow transplantation. Omenn syndrome is a rare severe combined immunodeficiency. Most cases are due to mutations in the RAG genes with autosomal recessive transmission. Our observation is original because of an incomplete clinical presentation. During the course of the disease, the child had no failure to thrive, no organomegaly and no recurrent infection. Immunodeficiency must be excluded in every case of neonatal erythroderma and an immunological assessment should be performed without delay.
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PMID:Omenn syndrome: a rare case of neonatal erythroderma. 1733 97


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