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)

Of 18 boys in Duncan kindred, 6 died of a lymphoproliferative disease. They exhibited a subtle, progressive combined variable immunodeficiency disease characterised by benign or malignant proliferation of lymphocytes, histiocytosis, and alterations in concentrations of serum-immunoglobulins. Infectious mononucleosis occurred during or preceding terminal events in at least 3 of the cousins. Fever, pharyngitis, lymphadenomegaly, hepatosplenomegaly, atypical lymphocytosis, and a spectrum ranging from agammaglobulinaemia to polyclonal hyper-gammaglobulinaemia occurred. At necropsy, the thymus gland and thymic-dependent areas in the lymph-nodes and spleen were depleted of lymphocytes. Diffuse infiltrates composed of lymphocytes, plasma cells, and histiocytes, some containing erythrocytes, invaded the haematopoietic organs, viscera, and central nervous system. In addition, 2 half-brothers had lymphomas of the ileum and central nervous system. Approximately half the boys, including the half-brothers, were affected, and girls were spared, implying sex-linked recessive inheritance. Various lymphohistiocytoses resemble Duncan's disease, but it is distinctive from them in the mode of inheritance or by histiological characteristics. This study suggests that the Epstein-Barr virus or other viruses triggered the fatal proliferation of lymphocytes and that progressive attrition of T-cell functions allowed uncontrolled lymphoproliferation.
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PMID:X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). 4 19

The lymphocyte transforming agent, associated with Epstein-Barr virus, was sought in the oropharynx and other clinical sites of 443 individuals in the following groups: premature and term neonates; infants with congenital malformations or with suspected TORCH syndrome; children with various illnesses; pregnant and postpartum women; healthy adults; and patients with infectious mononucleosis. Evidence of intrauterine infection was found in one newborn infant and LTA was demonstrated in a 16-day-old infant who developed transient hepatosplenomegaly. LTA was not detected in 96 other newborn infants and 57 infants with various anomalies or illnesses; nor was it found in the cervix of 125 pregnant or postpartum women. LTA was demonstrated in varying frequency in ill children, healthy adults, and those with infectious mononucleosis. It is suggested that the clinicoepidemiologic patterns of EBV infection in newborn infants and children will best be established by prospective studies.
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PMID:Leukocyte transforming agent (Epstein-Barr virus) in newborn infants and older individuals. 18 46

Two cases of idiopathic trombocytopenic purpura, in infants 37 and 42 days old, and one case of atypical congenital cytomegaloviral disease are presented, the latter proved at necropsy. Cytomegalic inclusion cells are found in urine in both cases of purpura with hepatosplenomegaly and mononucleosis syndrome. In one of the cases, cytomegalovirus cultures are positive in urine and blood. The hemorrhagic syndrome is mild and recuperation is achieved in less than thirty days, without relapse. The use of corticosteroids is not recommended. With these two new cases, thirteen similar clinical observation of thrombocytopenic purpura in infants, six of them in 1977, are completed. Thus, a new entity is added to the growing list of clinical manifestations caused by human CMV infection.
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PMID:[Thrombocytopenic purpura of the young infant caused by perinatal infection by cytomegaloviruses]. 22 6

Ten cases of pediatric fulminant hemophagocytic syndrome, encountered between 1986 and 1989, are described. They occurred in the summer, and the patients presented with fever, jaundice, hepatosplenomegaly, pancytopenia, coagulopathy, and abnormal liver function. Bone marrow studies revealed infiltration by atypical T-lymphoid cells, rare B immunoblasts, and mature histiocytes with hemophagocytosis. Initially, histiocytic medullary reticulosis was suspected in six cases. The clinical course was characterized by rapid deterioration, with a mean period of 16 days from onset of fever to death. The main causes of death were coagulopathy with multiple organ failure and opportunistic infection. In seven of eight cases studied by serologic assay and Southern blot hybridization, acute or active Epstein-Barr virus (EBV) infection was documented. It is suggested that an atypical or fulminant form of primary EBV infection distinct from classic infectious mononucleosis was prevalent in previously healthy children in Taiwan. Younger age involvement and seasonal clustering were characteristic of the disorder described.
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PMID:Fulminant childhood hemophagocytic syndrome mimicking histiocytic medullary reticulosis. An atypical form of Epstein-Barr virus infection. 165 May 32

Diphenylhydantoin-induced hepatitis and mononucleosis are uncommon in children. The occurrence of these two diseases in the same individual, with progression to hepatic failure is rare and has not been reported in infants. This report represents a 6-month-old male infant who developed an infectious mononucleosis-like syndrome and hepatic failure 16 days after diphenylhydantoin administration. He took this anticonvulsant for controlling seizures after a head injury. Fever, skin rash, hepatosplenomegaly, lymphadenopathy, and atypical lymphocytosis led to the initial diagnosis of infectious mononucleosis. However, negative heterophil antibody did not support the diagnosis. Jaundice ensued in the following course and became more and more profound. Meanwhile, physical examination showed shrinking in liver size. Negative virology studies, including Epstein-Barr virus, cytomegalovirus, and hepatitis B virus, excluded them as causative agents. The patient lapsed into a stage I hepatic coma, but gradually recovered clinically and biochemically after eight successive exchange transfusions and supportive care. Two liver biopsies were performed 20 and 50 days after the onset of disease, respectively. Remarkable hepatic parenchymal loss, cholestasis, and fatty change were found on histologic examination of the first biopsy specimen, and portal fibrosis was noted on the second.
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PMID:Mononucleosis and hepatic failure associated with diphenylhydantoin treatment in an infant. 167 17

We reported 3 fatal cases of primary Epstein-Barr virus (EBV) infection resembling histiocytic medullary reticulosis (HMR) in young children in Taiwan, where an HMR-like illness has been previously found to be prevalent. The disease ran a fulminant course, manifesting as fever, anemia, jaundice, skin rash, pulmonary infiltration, and/or hepatosplenomegaly lasting for only 1-3 weeks. Laboratory tests revealed no hemolytic anemia and Coombs test was negative. Sepsis or HMR was the main clinical differential. At autopsy, the spleen, liver, lymph node, lung, and bone marrow showed infiltration of atypical "histiocytes" or blasts, lymphocytes, and mature histiocytes with hemophagocytosis. Immunophenotype and gene rearrangement studies of the lymphoid tissues revealed that these atypical "histiocytes" were actually polyclonal B immunoblasts in one case and transformed T lymphocytes in the remaining 2 cases, representing two different types of virus-host interaction. Southern blot and in situ hybridization studies on frozen lymphoid tissues demonstrated the presence of EBV DNA in all 3 patients; the study for cytomegalovirus was negative. The young age of these patients, closely correlated with the prevalent age of primary EBV infection in the general populations in Taiwan, strongly suggest that these childhood cases of previously diagnosed HMR-like disease may actually represent a lethal form of primary EBV infection or fatal infectious mononucleosis.
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PMID:Fatal primary Epstein-Barr virus infection masquerading as histiocytic medullary reticulosis in young children in Taiwan. 196 24

Two male siblings, one aged five and a half months (SB), and the other aged six months (VB), with fatal infectious mononucleosis phenotype of the X-linked lymphoproliferative syndrome, which resulted in the death of both infants, are presented. Both patients had been healthy, one until the age of five and a half months, and the other until the age of six months. Then, they developed a maculopapular rash, hepatosplenomegaly and lymphadenopathy. In one sibling, the serum IgG level was low, the IgM and IgA levels were high, and the proportion of E-rosette forming cells (E-RFC) and in vitro proliferative response to PHA were normal. In the other sibling, however, the serum IgG level was normal, the IgM and IgA levels were high and the stimulation index for proliferative response to PHA was reduced due to increased spontaneous blastogenesis. Anti-EBV antibodies were negative in both siblings, except for the IgM anti-VCA in V.B. A lymph node specimen could be studied in one infant and was found to be positive for the EBV genome. Postmortem histopathological findings included the absence of cortico-medullary differentiation and identifiable Hassal's corpuscles in the thymus and depletion of T-dependent regions of lymph nodes and spleen in V.B. Atypical mononuclear cell infiltration was detected in the portal areas of the postmortem liver biopsy in S.B.
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PMID:Fatal infectious mononucleosis in a family. 198 93

Epstein-Barr virus (EBV) DNA was detected in polyclonal T cells that proliferated transiently in a 21-year-old male (referred to as H.J.) who underwent an apparently benign lymphocytosis (white blood cells, 31 x 10(6)/microL; lymphocyte, 79%) with fever, tonsillar swelling, lymphadenopathy, and hepatosplenomegaly. The symptoms and signs subsided mostly within a month of hospitalization. The major population of the lymphocytes at admission was positive for CD3, CD8 (4/8 ratio, 0.16), WT31, and DR antigen. Eight percent of the leukocytes were too blastoid to be classified as atypical lymphocytes of infectious mononucleosis (IM). The blastoid lymphocytes and the duration and degree of the lymphocytosis and hypergammaglobulinemia appeared inconsistent with IM, whereas the EBV serology indicated either EBV primary infection or a secondary alteration of normal seropositive EBV immunity. The genomic analysis of T-cell receptor beta chain in the peripheral blood mononuclear cells (PBMC) at admission with a C beta probe did not show a monoclonal rearrangement. EBV genome was detected in these cells, using the BamHI W and K probe, but not in the cells after discharge. Analysis of the EBV terminal repeat junctional sequence, using Xho I fragment of the latent membrane protein (LMP) probe binding with the terminus, did not show monoclonal or oligoclonal populations. EBV-associated nuclear antigen (EBNA) was detected in 36% of the PBMC at admission, but not in the later cells. These EBNA-positive cells were found to form rosette with sheep erythrocytes. The PBMC of six acute IM patients contained neither EBV DNA nor EBNA-positive cells. The observations in this case show a unique type of EBV infection in T cells that has not been previously reported.
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PMID:Detection of Epstein-Barr virus genome in benign polyclonal proliferative T cells of a young male patient. 216 93

Between 1976 and 1982, 113 children aged 6 months to 16 years with documented Epstein-Barr virus-induced infectious mononucleosis were studied prospectively, and in most instances serially. An unexpected finding was the large number of young children, less than 4 years old, with this disease. Children with infectious mononucleosis, in particular the very young, tended to have more rashes, significant neutropenia, abdominal pain (older children only), and possible hepatosplenomegaly than have been reported in adult patients. The intensity of the characteristic relative atypical lymphocytosis found in peripheral blood was age-related; it was less in the very young. Findings of failure to thrive, otitis media, and episodes of recurrent tonsillopharyngitis appeared to be unique or more closely associated with childhood disease. Complications such as thrombocytopenia with hemorrhagic manifestations, significant airway obstruction, and neurologic problems occurred more frequently whereas jaundice occurred less frequently than noted in adult patients. Six children, all less than 4 years old, developed pneumonia during the disease course. The increased availability of Epstein-Barr virus-specific testing should continue to expand our knowledge of this disease in children of all ages.
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PMID:Epstein-Barr virus infectious mononucleosis in children. I. Clinical and general laboratory findings. 298 84

The results of clinical and Epstein-Barr virus (EBV) serological studies on nine Chediak-Higashi syndrome (CHS) patients are reported. Persistently elevated antibodies to the viral capsid antigen (VCA) and the restricted component of the early antigen complex (EA-R) developed in six patients who experienced primary EBV infection which either remained silent or were accompanied by clinical signs of infectious mononucleosis (IM). Hepatosplenomegaly and moderate lymphadenopathy, both clinical signs of the accelerated phase, remained detectable in the six patients for a long period of time after seroconversion. The clinical, serological, and histopathological observations are suggestive of a nonmalignant lymphoproliferative disease and consistent with an immunodeficiency to EBV. The abnormal serological responses to EBV in CHS are therefore considered manifestations of a chronic active EBV infection which may result in lethal lymphoproliferation. The three as yet seronegative CHS patients revealed no signs of the accelerated lymphoproliferative phase of the syndrome.
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PMID:Chronic active Epstein-Barr virus infection in patients with Chediak-Higashi syndrome. 301 35


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