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)

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 Mexican-American boy presented at birth with an extensive eruption consisting of 0.5 to 1.0 cm hyperpigmented macules with a distinct peripheral scale involving primarily the forearms, abdomen and lower back (Fig. 1). Rare intact vesicopustules were also identified. There was an unremarkable prenatal history, and the infant was a product of a normal vaginal delivery. With the exception of the skin lesions and moderate hepatosplenomegaly, the physical examination was normal. Gram stains of the pustules showed numerous neutrophils but no bacteria. Bacterial cultures, of the skin and blood, TORCH screen (toxoplasmosis, rubella, cytomegalic virus, and herpes virus) and a VDRL were negative. On the second day of life, the patient developed several pustules with surrounding erythema consistent with erythema toxicum neonatorum. Wright-stained smears of these lesions showed abundant eosinophils. Hepatosplenomegaly resolved by the third day of life and at the time of discharge only hyperpigmented macules persisted. Follow-up visit six weeks later showed no evidence of skin lesions.
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PMID:Transient neonatal pustular melanosis. 51 27

Eight cases of acute human herpesvirus type 6 (HHV6) infection in infants were diagnosed serologically by the demonstration of IgM anti-HHV6 (8/8) and a significant change in total anti-HHV6 antibody titre (6/8). Four infants were sufficiently ill to require admission to hospital and further investigations: one with encephalitis and three with gross hepatosplenomegaly, two of whom had evidence of simultaneous infection with another herpes-virus. The remaining four infants had an illness compatible with roseola infantum, although this diagnosis had not been made clinically. Sera from two of those infants with rash had been sent for analysis to exclude rubella because the infants' mothers were pregnant. The other two had received antibiotics when febrile, and the subsequent appearance of the roseola rash had raised the possibility of antibiotic allergy. The data suggest that there are clinical syndromes in addition to roseola infantum associated with the presence of IgM anti-HHV6, in which serological screening for evidence of acute HHV6 infection may be useful.
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PMID:Roseola infantum and other syndromes associated with acute HHV6 infection. 217 78

A monoclonal malignant lymphoma was diagnosed in a 30-month-old Japanese boy, who, since the age of 12 months, had had chronic, recurrent infectious mononucleosis manifested by repeated episodes of severe cough and high fever accompanied by marked lymphadenopathy and hepatosplenomegaly and high serum Epstein-Barr virus (EBV) antibody titres. The diagnosis of Burkitt's lymphoma was made when a cervical lymph-node biopsy specimen revealed massive proliferation of immature B-cells with starry-sky histiocytes. These lymph-node cells were characterised by a translocation between chromosomes 10 and 17. There were approximately 9 EBV genome-equivalents per cell. Most cells were positive for nuclear antigen (EBNA); early antigen (EA) and viral capsid antigen (VCA) were also detected. The presence of EBV was supported by finding that the cell-free lymph-node extract transformed cord-blood lymphocytes into EBNA-positive blast cells. The proportion of EA-positive and VCA-positive cells increased rapidly in culture for 24 h, then the positive cells degenerated rapidly and completely. The cells also contained numerous herpes-type virus particles. The child improved considerably with cytostatic treatment and has been in remission for 2 years.
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PMID:Evolution of infectious mononucleosis into Epstein-Barr virus carrying monoclonal malignant lymphoma. 612 20

Many infants with intrauterine growth retardation (IUGR) are screened for TORCH infections. The yield and costs of such a practice may not be justifiable. Medical charts of infants with IUGR who had a workup for toxoplasmosis, other (infections), rubella, cytomegalovirus (infection), and herpes (simplex) (titer) (TORCH) infections were reviewed for the presence of clinical findings, laboratory and head ultrasound abnormalities associated with intrauterine infections. Maternal charts and reports of placental pathology were reviewed for identifying maternal illnesses and placental causes associated with IUGR. Seventy-five out of 182 infants (41%) with IUGR had a workup for TORCH infection. Maternal conditions associated with IUGR included: pregnancy-induced hypertension (19%), tobacco use (43%), alcohol abuse (21%), illicit drug use (24%), chronic hypertension, diabetic vasculopathy or collagen vascular disease (12%), and multiple gestation (3%). Placental pathology was available in 53/75 cases. Thirty-six of fifty-three (67%) placentae had abnormalities associated with IUGR: placental infarcts (22 of 36), vasculitis/villitis (15 of 36), placenta previa (1 of 36), abruptio placenta (2 of 36), and velamentous insertion of umbilical cord (1 of 36). Clinical findings among infants included hepatosplenomegaly, cataract or rash (1 of 75), thrombocytopenia and/or neutropenia and/or direct hyperbilirubinemia (11 of 75). Seven out of 75 infants had dysmorphic features. None of the infants (0 of 75) had positive IgM titers for toxoplasma, rubella, cytomegalovirus (CMV), or herpes simplex virus (HSV). No infants (0 of 43) had elevated total IgM titers; one infant (1 of 57) had a positive urine culture for CMV. One infant had evidence of calcifications on head ultrasound and a second infant had hydrocephalus (2 of 43). The costs associated with workup for TORCH infections among 75 infants included: TORCH titers determination: $17,816, total IgM titers: $1318, urine culture for CMV: $5734, and head ultrasound: $28,165. The yield of workup for TORCH infection among infants with IUGR is poor and does not justify the incurred costs.
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PMID:Yield and costs of screening growth-retarded infants for torch infections. 1101 37

Human herpes virus, type 8, also called Kaposi's sarcoma-associated virus, is associated with primary effusion lymphoma, an uncommon and unusual subset of acquired immunodeficiency syndrome-related lymphomas mostly confined to body cavities, which primarily affects human immunodeficiency virus-positive men. We report the case of a 40-year-old male with primary effusion lymphoma that presented initially with generalized lymphadenopathy and hepatosplenomegaly, followed by pericardial effusion and cardiac tamponade, in a previously undiagnosed human immunodeficiency virus patient. Cytomorphological studies disclosed a large-cell lymphoma with a population of cells demonstrating intermediate CD45 expression and partial coexpression of CD20 and CD23 markers, as well as universal expression of HLA-DR, CD71, CD38, and CD-30. Molecular studies showed clonal B-cell gene rearrangements and molecular evidence of human herpes virus, type 8. This case stresses the necessity, even in the absence of the 'classical clinical features,' of molecular testing for human herpes virus, type 8 in a subset of patients with high risk for human herpes virus, type 8-associated lymphomas.
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PMID:Unusual presentation of "extracavitary" primary effusion lymphoma in previously unknown HIV disease. 1110 Jun 30

We describe a case of T-cell large granular lymphocyte (LGL) leukaemia that transformed into a large-cell T-cell lymphoma 11 years from diagnosis. A 29-year-old asymptomatic female presented in 1989 with lymphocytosis, neutropenia and mild bone marrow infiltration. The circulating cells were LGL with a CD2+, CD3+, CD8+, CD4-, CD16+, CD56+, CD57- phenotype. In August 2000, she developed fever, a large submandibular mass and hepatosplenomegaly. Biochemistry showed abnormal liver function tests and raised lactate dehydrogenase (LDH) levels. A serological screen for Epstein-Barr virus, cytomegalovirus, human T-lymphotropic virus-I, human herpes virus (HHV)-6 and HHV-7 was negative. Histology of the mass was consistent with the diagnosis of peripheral T-cell lymphoma composed of large cells, and immunohistochemistry showed that the lymphoma cells had a phenotype identical to the mature LGL. Molecular analysis with the polymerase chain reaction (PCR) demonstrated rearrangement of the T-cell receptor (TCR) gamma-chain gene with a band of identical size in both bone marrow mature LGL and lymph node cells. The patient was treated with CHOP (cyclophosphamide, vincristine, doxorubicin and prednisolone), resulting in the disappearance of the mass and improvement of the hepatosplenomegaly, LDH and liver abnormalities. She underwent splenectomy, and spleen histology showed involvement by T-cell LGL leukaemia with no evidence of transformation. This case illustrates that transformation or Richter syndrome may occur in a minority of patients with T-cell LGL leukaemia, a disease that has a benign clinical course in most cases. This is the first case documented by molecular methods of the transformation of the pre-existing clone.
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PMID:Transformation of T-cell large granular lymphocyte leukaemia into a high-grade large T-cell lymphoma. 1184 12

The literature was reviewed to study cases of intoxication with systemic dermatitis associated with exposure to trichloroethylene. The average age of patients in the reports reviewed to date was twenty-nine; these diseases were found in relatively young persons and no difference was found according to gender. Many cases occurred within one month after the onset of exposure to trichloroethylene, and were accompanied by hepatitis, jaundice, hepatomegaly or hepatosplenomegaly. Most of the patients had no history of drug abuse or herpes infection. The level of exposure to trichloroethylene was not recorded in many cases, but ranged from less than 9 ppm to 800 ppm. In the severest cases, the lesions involved mucous membranes such as the conjunctiva and oral cavity, and the patients were diagnosed with Stevens-Johnson syndrome, but the etiology of the disease after trichloroethylene exposure remains unclear. Since several drugs have also been shown to cause systemic dermatitis with hepatitis, susceptibility factors are discussed. Many patients were found to have the slow acetylator genotype of N-acetyltransferase (NAT) 2, suggesting that the NAT2 genotype is a susceptibility factor. This hypothesis may also be applicable to trichloroethylene because NAT is involved in the glutathione-mediated metabolism.
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PMID:Generalized skin reactions in relation to trichloroethylene exposure: a review from the viewpoint of drug-metabolizing enzymes. 1460 23

We report an instructive case of diffuse large B-cell lymphoma presenting as acute heart failure. A 69-year-old human immunodeficiency virus-negative man was admitted to our hospital for general fatigue. A computed tomographic scan of the chest and abdomen showed pericardial effusion, but there was no evidence of tumor masses, lymph node enlargement, or hepatosplenomegaly. During the chemotherapy, increased lactate dehydrogenase and pleural effusion appeared. The tumor cells in the effusion showed positivity for CD5, CD19, CD20, kappa chain, and Bcl-2 and negativity for CD10 and CD23. The chromosomes showed t(8;14)(q24;q32) with c-myc/immunoglobulin (Ig)H rearrangement, and the MIB-1 index was not high (60%). Neither human herpes virus 8 nor Epstein-Barr virus DNA was detected in the cells by polymerase chain reaction. The response to chemotherapy was very poor, and the patient died 4 months after the diagnosis. A spectrum of the symptoms of CD5+ lymphoma encompasses pericardial effusion and also can accompany c-myc/IgH rearrangement.
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PMID:CD5+ diffuse large B-cell lymphoma with c-myc/IgH rearrangement presenting as primary effusion lymphoma. 1591 62

Hemophagocytic syndromes (hemophagocytic lymphohistiocytosis, HLH) represent a severe hyperinflammatory condition with the cardinal symptoms prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Biochemical markers include elevated ferritin and triglycerides, and low fibrinogen. Whereas in children several inherited immune deficiencies may lead to this syndrome, most adults with HLH have no known underlying immune defect. Nevertheless, impaired function of natural killer (NK) cells and cytotoxic T-cells (CTL) is characteristic for both genetic and acquired forms of HLH. Frequent triggers are infectious agents, mostly viruses of the herpes group. Malignant lymphomas, especially in adults, may be associated with HLH. A special form of HLH in rheumatic diseases is called macrophage-activation syndrome. Initially HLH may masquerade as a normal infection since all symptoms, even though less pronounced, may also be found in immune competent patients. Patients with HLH, however, cannot control the hyperinflammatory response which, if untreated, is fatal in genetic cases and in a high percentage of acquired cases. Awareness of the clinical symptoms and of the diagnostic criteria of HLH is important to start life-saving therapy with immunosuppressive/immunomodulatory agents in time.
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PMID:Hemophagocytic syndromes. 1759 Feb 50


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