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)

Two cases of large, multiple splenic hamartomas in children with pancytopenia, bone marrow hyperplasia, lymphadenopathy, hepatosplenomegaly, frequent infections, growth retardation, and fever are reported. These symptoms were relieved by splenectomy, and have not recurred during follow-up periods of one year and nine years. The sharply circumscribed lesions comprised large portions of the resected spleens and were composed of dilated vascular channels filled with mononuclear cells and iummunoblasts. The lesions lacked splenic cords or trabeculae, lymphoid follicles, Reed-Sternberg cells, and granulomas or other evidence of infection. Splenic hamartomas are usually single small lesions found incidentally at necropsy or laparotomy. Splenic hamartomas associated with symptoms and hypersplenism are large, and often confluent multiple tumors. Recognition of their benign nature is important in light of the current practice of laparotomy for staging and diagnosis of malignant conditions.
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PMID:Symptomatic splenic hemartoma: a report of two cases and review of the literature. 740 11

Two siblings developed a fulminant fatal myeloproliferative disease at 7 and 8 weeks of age. The illness presented with pallor, haemorrhagic symptoms, and hepatosplenomegaly, and the blood picture was that of pancytopenia and leucoerythroblastosis. Bone marrow histology showed reduced haemopoiesis with generalised fibrosis. Histiocytes were present, but haemophagocytosis was not prominent. There was evidence of extramedullary haemopoiesis in the spleen, with a chronic inflammatory infiltrate of other organs. The condition closely resembles acute idiopathic myelofibrosis of infancy, but the early onset with severe pancytopenia and the histological appearances may arouse suspicion of the possible familial nature of the condition. Although clinically resembling familial haemophagocytic reticulosis, the uncharacteristic bone marrow, liver, and spleen histology serve to exclude this diagnosis.
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PMID:Familial myelofibrosis. 743 63

Five patients had a histiocytic, cytophagic panniculitis and a febrile, progressive course, which included hepatosplenomegaly, pancytopenia, liver function abnormalities, and a hemorrhagic death. The terminal hemorrhage was characterized by features of intravascular coagulation and liver failure. The histiocytosis could be found at times also in bone marrow, lymph nodes, liver and spleen, and serosal tissues, as well as in skin and subcutaneous tissue. Adequate biopsy diagnosis will prevent such cases from being labeled as Weber-Christian disease with bleeding, and offer an opportunity for appropriate treatment of this new syndrome of histiocytic, cytophagic panniculitis.
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PMID:Hemorrhagic diathesis associated with benign histiocytic, cytophagic panniculitis and systemic histiocytosis. 743 42

Two cases of what was originally called "Weber-Christian disease" were found to be a chronic, recurrent form of histiocytic panniculitis characterized by histiocytic engulfment of red and white blood cells--"cytophagocytosis." The disease was manifested by recurrent fever, subcutaneous nodules, pancytopenia, and mucosal ulcerations. Hepatosplenomegaly and enlarged lymph nodes were observed. Focal invasion of the reticuloendothelial system by acidophilic or cytophagic histiocytes could be identified. Progressive changes in liver function and hemorrhagic diathesis occurred in both patients.
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PMID:[Panniculitis with cellular phagocytosis. Chronic form of histiocytic panniculitis with fever, pancytopenia, polyserositis and lethal hemorrhagic diathesis]. 745 Nov 40

Severe chronic active Epstein-Barr virus (EBV) infection is a lymphoproliferative disease characterized by extremely high antibody titers to EBV, fever, lymphadenopathy, hepatosplenomegaly, and pancytopenia, without any prior immunological abnormality. A spontaneous lymphoblastoid cell line was established from a 4-year-old boy with severe chronic active EBV infection. Immunofluorescence and Western blotting analyses showed that the cell line was of B cell origin and expressed Epstein-Barr nuclear antigens 1, 2 3a, 3b and 3c, and latent membrane protein 1, which are reported to be targets for EBV-specific cytotoxic T lymphocytes (CTL). The cytotoxicity of peripheral blood mononuclear cells derived from the patient and his HLA-identical sister was assayed against the cell line. The cell line was recognized and killed by anti-EBV CTL derived from the HLA-identical sister, but the patient's peripheral blood mononuclear cells had no cytotoxicity. We conclude that antigen presentation in the EBV-infected cells from the patient is intact and sufficient for generation of an EBV-specific CTL response. These observations suggest that severe chronic active EBV infection may not be caused by impaired EBV-antigen presentation of the infected cells but by impaired cellular immune responses to the virus. Our results also suggest the therapeutic possibility that this disease may be treated by adoptive transfer of EBV-specific CTL or bone marrow transplantation from an HLA-matched donor whose immune response to EBV is intact.
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PMID:Intact antigen presentation for Epstein-Barr virus (EBV)-specific CTL by a lymphoblastoid cell line established from a patient with severe chronic active EBV infection. 750 Sep 12

A patient with chronic myeloproliferative disorder (CMPD) developed Sweet's syndrome during granulocyte colony-stimulating factor (G-CSF) therapy. A 61-year-old man with essential thrombocythemia was treated with busulfan intermittently since April, 1991. In February, 1993, hepatosplenomegaly with leukoerythroblastosis arose and a diagnosis of myelofibrosis with extramedullary hematopoiesis in the spleen was established. For alleviation of left hypochondralgia due to splenomegaly, he received splenic irradiation in September, 1993. Soon after the irradiation, his peripheral blood revealed pancytopenia and then administration of rhG-CSF was begun on the 9th of October, 1993. One week after G-CSF therapy, he became feverish and painful eruptions on the face and the upper extremities appeared and enlarged. Skin biopsy resulted in a diagnosis of Sweet's syndrome. Treatment with oral prednisone, 30 mg daily, was begun, and rapid and significant improvement of the skin lesions was obtained. The pathogenesis of Sweet's syndrome remains obscure, but careful follow up is necessary for patients during G-CSF therapy with respect to development of Sweet's syndrome.
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PMID:[Sweet's syndrome in a patient with chronic myeloproliferative disorder during recombinant human granulocyte colony stimulating factor therapy]. 754 Feb 25

A 28-year-old hemophilia A patient was admitted to our hospital in July, 1991 because of high fever, chronic diarrhea and anemia. The patient had been recognized as a asymptomatic carrier of human immunodeficiency virus (HIV) in 1985 and had developed Pneumocystis carinii pneumonia and had been diagnosed as acquired immunodeficiency syndrome (AIDS) in 1990. Hematologic laboratory examinations on admission revealed pancytopenia and a CD4+ cell count of 3/mm3. X-ray findings of chest and abdomen were normal and bacterial cultures of sputum, urine, blood, stool, cerebrospinal fluid and bone marrow yielded no pathogenic microorganisms. Microscopical examination of the stained specimens showed no acid-fast bacilli. On his fifth hospital day, his liver and spleen enlarged markedly and an abdominal CT scan obtained on the 13th day revealed high-grade hepatosplenomegaly. Administration of several kinds of antibiotics, antifungal agents, antiviral agents, antituberculous agents and gamma-globulin medicines did not relieve the symptoms. On the 28th day the patient had developed a subarachnoid hemorrhage and died five days later. Retrospectively all cultures for acid-fast bacilli of the specimens on his admission yielded nontuberculous mycobacteria. The bacteria were identified as Mycobacterium avium by polymerase chain reaction and his disease was eventually diagnosed as disseminated Mycobacterium avium complex (MAC) infection. The liver and spleen weighed 2,660 g and 1,840 g respectively at autopsy. Although hepatosplenomegaly is commonly recognized in AIDS patients with disseminated MAC infection, such massive and rapid enlargement has been rarely observed. This case study emphasize the importance of diagnosis and rapid treatment at the early stage of MAC infection.
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PMID:[Massive and progressive hepatosplenomegaly caused by disseminated nontuberculous mycobacteriosis in a patient with acquired immunodeficiency syndrome]. 756 51

Che'diak-Higashi syndrome (CHS) is a lethal, progressive, autosomal recessive, systemic disorder associated with oculocutaneous albinism, photopobia, nystagmus, massive leukocyte inclusions (giant lysosomes), histiocytic infiltration of multiple body organs, development of pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma. This rare disorder of children characterized by impaired resistance to bacterial infection leading to early demise. This syndrome is rarely seen. We are presenting this case report to discuss a patient with Che'diak-Higashi syndrome, who was scheduled for splenectomy in our clinic.
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PMID:Anesthesia in Che'diak-Higashi syndrome--case report. 756 17

We report on a patient with a rare hepatosplenic gamma delta T-cell lymphoma (gamma delta TCL) presenting clinically with B-symptoms, hepatosplenomegaly and pancytopenia. During the initial stage of the disease the sparse malignant cells could not be detected histologically. Furthermore, their identification was obscured by massive macrophage proliferation with haemophagocytosis in the spleen. Diagnosis was established by detection of a clonal T-cell receptor (TcR) rearrangement and, retrospectively, by demonstration of rare cells expressing and aberrant T-cell phenotype. The findings in this patient emphasize that minimal neoplastic T-cell infiltrates can lead to severe clinical symptoms. Initial biopsy findings may be misinterpreted as benign. Gamma delta TCL may elaborate lymphokines that suppress haematopoiesis, leading to pancytopenia and macrophage proliferation.
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PMID:Occult hepatosplenic T-gamma delta lymphoma. Value of genotypic analysis in the differential diagnosis. 765 45

We report a case of an adolescent boy with acute lymphoblastic leukemia whose blasts had three chromosomal abnormalities: trisomy 8, a t(5;15), and an extra "marker" chromosome. The patient presented with huge hepatosplenomegaly and pancytopenia. The response to treatment (ALL BFM 90 protocol) was very rapid, and the patient is in complete remission 1 year after diagnosis.
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PMID:Acute lymphoblastic leukemia with a unique translocation in an adolescent boy. 765 14


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