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)

The occurrence of T system immunodeficiency in an infant together with excessive production of IgM and, to a lesser degree, of IgG and IgA, is an unusual combination. A case is reported in which an unremitting lung infection with lymphadenopathy and hepatosplenomegaly developed in a previously healthy two-month-old infant. Leukocytosis with lymphocytosis, monocytosis and eosinophilia was rapidly followed by leukopenia and lymphocytepenia after a blood transfusion for anemia. There was a transient clinical remission, but on relapse 10 days later, quantitative and functional T cell deficiency was found together with increased IgG and IgA and with IgM values reaching 50 times greater than normal. Thymic humoral factor was successful in vitro in increasing the number of identifiable T cells (E rosetts) as well as T cell function (leukocyte migration inhibition factor production). However, the infant died suddenly, and at autopsy evidence of a generalized inflammatory reaction compatible with a viral infection was found. The thymus was small, hypoplastic and hypocellular. It is speculated that the T system deficiency may have been acquired following Epstein-Barr virus infection, and that T cell regulatory activity of immunoglobulin production was defective.
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PMID:Immune deficiency of T system with possible T cell regulatory activity defect. 19 69

Nineteen patients whose bone marrow smears showed histiocytic hyperplasia with prominent hemophagocytosis were found to have a clinicopathologic syndrome associated with active viral infection. High fever, constitutional symptoms, liver function, and coagulation abnormalities and peripheral blood cytopenias were characteristic findings. Hepatosplenomegaly, lymphadenopathy, bilateral pulmonary infiltrates, and skin rash were often present. Fourteen of the patients were immunosuppressed. Active infection by herpes group viruses was documented in 14 patients and by adenovirus in 1. The bone marrow of most patients also showed decreased granulopoiesis and erythropoiesis with normal to increased numbers of megakaryocytes. Treatment generally consisted of supportive therapy and withdrawal of immunosuppressive drugs. Thirteen patients recovered. Lymph node biopsy and autopsy material showed generalized histiocytic hyperplasia with hemophagocytosis. The relationship of this disorder to familial hemophagocytic reticulosis, familial erythrophagocytic lymphohistiocytosis, histiocytic medullary reticulosis, and malignant histiocytosis is discussed. Immunosuppressive and cytotoxic therapy may be contraindicated in the treatment of this virus-associated syndrome.
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PMID:Virus-associated hemophagocytic syndrome: a benign histiocytic proliferation distinct from malignant histiocytosis. 22 8

A 26-year-old female patient developed high fever, hepatosplenomegaly and subcutaneous nodules. Atypical lymphocytes were present in the peripheral blood. Skin biopsy revealed lobular panniculitis. Bone marrow examination showed prominent phagocytosis by benign histiocytes. The diagnosis of cytophagic histiocytic panniculitis was made, and the disease has been well controlled with oral prednisolone. This is the first report of cytophagic histiocytic panniculitis with atypical lymphocytes in the peripheral blood, which are frequently seen in virus-associated hemophagocytic syndrome. This observation suggests that underlying viral infection may be one factor in the development of cytophagic histiocytic panniculitis.
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PMID:Cytophagic histiocytic panniculitis with atypical lymphocytes in peripheral blood. 129 32

A variant strain of Rauscher leukemia virus (RLV-A) obtained from a transplantable murine monomyelocytic leukemia causes a disease characterized by frank anemia, wasting, hepatosplenomegaly and erythroblastosis. The involvement of platelets in this disease are reported here. The RLV-A induced a severe thrombocytopenia (25 percent of control level) at the terminal stage of disease. This thrombocytopenia was not associated with disseminated intravascular coagulopathy since the prothrombin times were always within normal limits. The partial thromboplastin time was elevated in the terminal stages of disease and was found to be associated with factor deficiencies, possibly owing to the presence of anti-factor antibodies, in the intrinsic coagulation pathway, especially factor VIII. Further, splenectomy did not abolish the thrombocytopenia, since splenectomized, virally infected animals also developed severe thrombocytopenia (29 percent of control levels). The ensuing splenomegaly during progression of disease was not the cause of the thrombocytopenia. A physiological response to the severe thrombocytopenia was the production of larger size platelets. At terminal stages of the disease, platelet volume increased to 4.2 mu 3 (normal is 3.0 mu 3). An increase in platelet volume was also observed in splenectomized, virally infected animals. Electron microscopy indicated that these circulating platelets contained c-type viral particles. Viral infection was associated with decreased life span of circulating platelets, as measured by 75Se-methionine at mid and terminal stages of the disease. Our results suggest that direct viral infection of platelets and/or megakaryocytes with subsequent cell lysis is a possible cause of the observed thrombocytopenia observed in RLVA-induced disease and may also occur in other retrovirally-induced diseases.
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PMID:Thrombocytopenia in a retrovirally-induced murine erythroleukemia. 145 28

FEL is an autosomal recessive, lethal disease of early childhood characterized by hepatosplenomegaly, fever, and multisystem lymphohistiocytic infiltrates. The etiology and pathogenesis of this disorder remain uncertain. However, evidence suggests that the disease may be due to an inherited defect in immunoregulation that predisposes to an uncontrolled proliferation of activated histiocytes in response to a stimulus such as viral infection. Although clinical remission can often be achieved with systemic VP-16 and aggressive CNS therapy, the disease usually becomes refractory to treatment with a fatal outcome. Bone marrow transplantation may prove to be an effective treatment for this tragic disease.
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PMID:Familial erythrophagocytic lymphohistiocytosis. 199 22

One hundred and fifty two bilharzial patients together with one hundred and eighty four individuals as free controls were tested for HBsAg using ELISA technique. 6.6% of the former were carriers compared to only 2.2% in the later. It was found that past history of antibilharzial therapy, jaundice and presence of hepatosplenomegaly increased the risk of contracting HB virus infection. Praziquantel therapy showed 60% parasitological cure rate and 90 reduction in the mean egg count of bilharzial carriers of HBV infection. It improved both simple and early hepato-intestinal schistosomiasis as 5 out of 10 HBV carriers became free either from schistosoma ova or HBsAg after 6 months of treatment. In this work all chronic bilharzial carriers (5) had hepatosplenomegaly, 1 patient showed parasitological cure after treatment and the other four patients had a reduction in the mean egg count denoting the failure of praziquantel in improving their immunologic status and thus still HBsAg carriers.
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PMID:Chronic hepatitis B antigenaemia in bilharzial patients treated with Praziquantel. 213 90

During a routine screening for G6PD deficiency in the Province of Matera (Southern Italy), an eleven-year-old boy was brought to our attention who had fever obviously caused by a viral infection, but who also had hepatosplenomegaly and haemoglobinuria. The boy had previously experienced two severe haemolytic attacks. At the age of six months severe haemolysis occurred after the ingestion of cooked fava beans. At the age of seven years, the haemolytic episode was very likely triggered by oral administration of co-trimoxazole. The G6PD activity level in erythrocyte lysate was clearly defective (25% of normal). The electrophoretic mobility of G6PD was 110% of normal. These data together with those obtained from biochemical and molecular characterisation allowed the variant to be identified as G6PD A(-). This is the first report of an association between the African type G6PD deficiency variant and favism.
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PMID:Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. 249 87

A case of angioimmunoblastic lymphadenopathy with dysproteinemia (AILD) in infancy is reported. The disease had a mild onset with generalized lymphadenopathy, hepatosplenomegaly, thrombocytopenia, polyclonal hypergammaglobulinemia, and T-cell deficiency. The AILD course lasted more than 100 months, alternating clinical remission to recurrent relapses. Hepatitis B viral infection suddenly evolving to hepatic failure was the cause of death. From a rapid survey of the present knowledge, the nosology, immunological features, and therapy of AILD are discussed and a possible presumptive pathogenetic pathway is proposed.
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PMID:Angioimmunoblastic lymphadenopathy with dysproteinemia: report of a case in infancy with review of literature. 270

To date, the acquired immunodeficiency syndrome (AIDS) has been identified in over 50 children in the US, including those with associated hemophilia, high-risk environmental factors (Haitian background, parental intravenous drug abuse, or prostitution), and blood transfusions. The evaluation of an infant or young child in whom AIDS is suspected requires exclusion of congenital disorders of immune function. A specific test is not currently available, but inclusion criteria for childhood AIDS have been developed. The diseases accepted as indicative of underlying cellular immunodeficiency children are the same as those used in defining AIDS in adults, with the exclusion of congenital infections such as toxoplasmosis or herpes simplex virus infection in the 1st month of life or cytomegalovirus infection in the 1st 6 months of life. Specific conditions that must be excluded in children are primary immunodeficiency diseases (e.g., DiGeorge syndrome, Wiskott-Aldrich syndrome, ataxia-telangiectasia, neutrophil function abnormality) and secondary immuno-deficiency associated with immunosuppressive therapy, lymphoreticular malignancy, or starvation. Almost all young children with AIDS have hepatosplenomegaly, interstitial pneumonitis, and poor growth. The average age of 36 US child AIDS victims studied in detail was 5 months at presentation with findings suggestive of severe immunodeficiency. Mucocutaneous candidiasis was present in 75% of these 36 children, and Pneumocystis carinii and cytomegalovirus were each isolated from 30% of cases. Normal T4:T8 ratios occur in about 15% of pediatric AIDS cases. Laboratory evidence of polyclonal hypergammaglobulinemia generally supports the AIDS diagnosis. Recurrent infection and malnutrition are major problems in the clinical management of child AIDS patients.
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PMID:Acquired immune deficiency syndrome in childhood. 298 8

An eight-year-old child from Zaire died in Sweden in 1982 after a clinical course compatible with the acquired immunodeficiency syndrome (AIDS). In 1975, at the age of 5 months, the infant had an acute viral infection with a rash; this illness was followed by a chronic cough. During the course of the disease he had recurrent septicemia, fever (frequently with miliary lung infiltrates), disseminated lymphadenopathy, hepatosplenomegaly, candidiasis, and diarrhea. Late in the illness the child developed lethal disseminated disturbances of the central nervous system. Immunologic investigations revealed a pronounced hypergammaglobulinemia, normal C3 but low C4 values, decreased number of T-lymphocytes, and decreased lymphocyte stimulation with T-cell and B-cell mitogens. Samples of serum taken in 1981 and 1982 were analyzed and found to be positive for antibodies to HTLV-III virus. The course of the disease in this child was more prolonged than most of the pediatric cases described earlier. It is likely that this child developed AIDS early in 1975, long before the AIDS epidemic was apparent in the United States.
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PMID:Early case of acquired immunodeficiency syndrome in a child from Zaire. 301 6


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