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 7 month old female infant was affected by a rapidly fatal familial disease highly reminiscent of Omenn's syndrome. She presented with widespread eczematous lesions, hepatosplenomegaly, superficial lymphadenopathy, peripheral blood lymphocytosis, eosinophilia and hyper-IgE. An axillary lymph node was involved by a marked proliferation of T-3 +/T-10-- lymphocytes admixed with S-100+/T-6+/Leu-3a+/Ia + reticular cells which lacked typical LC granules; cell suspension study revealed that 90%-96% of the lymph node cells were T-11+/T-3+ lymphocytes characterized by low expression of Leu-3a and T-8 antigens and by high expression of Ia antigens (52%). Peripheral blood T lymphocytes exhibited a similar distribution of surface phenotypes. The patient died of interstitial pneumonia and an autopsy was performed. The thymus was markedly atrophic and completely devoid of lymphocytes. The peri-arteriolar lymphoid sheets of the spleen were poorly developed and were mainly composed of T-8+ lymphocytes. The mediastinal nodes were rudimentary and were populated by T-3+/T-10+ lymphocytes with low expression of Leu-3a and T-8 antigens. Our results raise the possibility that Omenn's syndrome is a peculiar primary immunodeficiency in which, despite early thymic involution, some abnormal T lymphocytes still develop in the peripheral lymphoid organs. Antigenic triggering of these cells might result in prominent proliferations of T lymphocytes and Langerhans-like cells which lead to the clinical manifestation of the disease.
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PMID:The Omenn's syndrome: histological, immunohistochemical and ultrastructural evidence for a partial T cell deficiency evolving in an abnormal proliferation of T lymphocytes and S-100 +/T-6 + Langerhans-like cells. 392 27

Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneumonitis. Three congenitally infected children have major neurological handicaps including spastic quadriplegia, microcephaly, and psychomotor delay, and five (10%), including the one with quadriplegia, have sensorineural deafness which is bilateral in three (6%). Estimates based on these findings suggest that the impact of congenital cytomegalovirus infection is comparable to that of congenital rubella in the era before vaccination. Of the 42 children where the nature of maternal infection was classifiable, congenital infection followed primary maternal infection in 32 (76%) and recurrent infection in 10 (24%). Neurological defects followed exposure to primary maternal infection in all three trimesters of pregnancy and also recurrent maternal infection.
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PMID:Congenital cytomegalovirus infection. 609 25

A new syndrome of acquired immunodeficiency has been identified in seven children who were small for gestational age at birth and subsequently have exhibited failure to thrive, lymphadenopathy, parotitis, hepatosplenomegaly, interstitial pneumonia, and recurrent infections. All have a profound cell-mediated immunodeficiency with reversed T4/T8 ratios. Six are hypergammaglobulinemic and one has low IgG levels. The mothers of five of the seven children are sexually promiscuous and/or drug addicts. Three mothers have an immunodeficiency similar to that found in their infants. One of them died at age 33 years with a diagnosis of acquired immunodeficiency syndrome. In five of the children and in three of their mothers, there is evidence of a persistent Epstein-Barr virus (EBV) infection. We speculate that a perinatal or in utero transmission of EBV can induce an "infectious immunodeficiency." The clinical, histopathologic, and immunologic features resemble those described in adult homosexuals and drug addicts.
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PMID:Acquired immunodeficiency with reversed T4/T8 ratios in infants born to promiscuous and drug-addicted mothers. 622 Jan 66

A newborn baby presented with hyaline membrane disease, interstitial pneumonia, jaundice, hepatosplenomegaly, and unusual bone manifestations with lytic and sclerotic bone lesions and virtually absent periosteal reaction. He subsequently developed intracranial calcifications and mental retardation. The pneumonia and hepatosplenomegaly resolved. At the time of the delivery, a sibling was suffering from a severe undetermined viral infection. The clinical evolution of the disease and the radiologic findings led us to believe that this patient had a prenatal viral infection. The laboratory tests and the histologic picture of the bone biopsy supported the diagnosis.
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PMID:Unusual osteopathy in a newborn. 687 10

A 49-year-old man was admitted to our hospital with anemia and hypergammaglobulinemia. Physical examination revealed superficial lymph node swelling and no hepatosplenomegaly. Laboratory findings showed WBC 5,300/microliters with normal hemogram, microcytic and hypochromic anemia. Total protein was 11.5 g/dl and immunoglobulinemia (IgG 10,100 mg/dl, IgA 295 mg/dl, IgM 160 mg/dl) was observed without M-component in serum and urine. The CD4/CD8 ratio of lymphocyte subsets was 0.58 and the tuberuculin skin test was negative. Urinary protein was positive and renal biopsy disclosed plasma cell infiltration. Lymph node biopsy revealed multiple lymphoid follicles and infiltration of plasma cells in the interfollicular areas. A diagnosis of multicentric Castleman's disease (MCD) was made baredon clinical findings and lymph node biopsy. After therapy with plasmapheresis and the CHOP regimen, he was given etoposide. Although discharged with clinical improvement and a decrease of serum IgG, he was readmitted because of pyrexia after 4 days and died of pneumonia with adult respiratory distress syndrome. The autopsy revealed lymphoid interstitial pneumonia. It seems important to notice that some of MCD have poor prognoses because of accompanying immunodeficiency.
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PMID:[Multicentric Castleman's disease with lymphoid interstitial pneumonia died of aggressive course with adult respiratory distress syndrome]. 756 7

We report here on two patients with kidney allografts who had hepatitis and duodenal ulcer caused by cytomegalovirus. In one case, hepatosplenomegaly and jaundice appeared after high fever lasting for ten days. Laboratory examinations showed liver dysfunction and lymphocytosis with atypical forms. Virological studies revealed cytomegalovirus infection and we successfully treated the patient with human interferon-beta. In the other case, duodenal bleeding followed by interstitial pneumonia occurred at the 54th day after transplantation. Bleeding from the small duodenal ulcer did not stop in spite of conservative and endoscopic therapies, and gastrectomy was performed. Histologically many epithelial cells with intranuclear inclusions were found around the ulcer. Virological studies showed elevation of antibody titres to cytomegalovirus which was isolated from the urine and oropharyngeal secrete. After gastrectomy and treatment with ganciclovir, the general condition improved and graft function was maintained. Our experience with these cases suggests that aggressive diagnostic investigations for cytomegalovirus infection are essential in patients with organ allografts who present liver and gastrointestinal lesions.
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PMID:Cytomegalovirus-associated hepatitis and duodenal ulcer in kidney allograft recipients. 761 76

Eight of 13 children pre- or perinatally infected with the HIV virus subsequently developed neurological symptoms. Three children also had other nonspecific symptoms (fever, lymphadenopathy, diarrhoea, hepatosplenomegaly, failure to thrive and mucocutaneous thrush). Five children developed illnesses associated with AIDS (opportunistic infections, cachexia and lymphocytic interstitial pneumonia). The neurological abnormalities predominantly affected motor functions, only later also involving sensory ones. Motor, cognitive and language development was impaired in all eight children. A loss of developmental milestones occurred in three children with HIV encephalopathy: they have since died. In all the children the HIV infection caused symptoms within the first year, progressing more quickly in the three with encephalopathy. There were no discernible risk factors to account for the difference in the course of the disease.
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PMID:[Cerebral symptoms in pre- or perinatally HIV-infected children]. 768 71

Three cases of familial haemophagocytic lymphohistiocytosis are presented with lung infiltration by haemophagocytic histiocytes. In all patients the diagnosis was based on hepatosplenomegaly, thrombocytopenia and anaemia, abnormal increase in triglycerides, ferritin and LDH, hypofibrinogenaemia and lymphohistiocytosis with haemophagocytosis in bone marrow. Two patients died of respiratory failure due to interstitial pneumonia. In these two patients the pneumonia was obscured and misinterpreted by the pathologists. A careful re-examination revealed lymphohistiocytosis and haemophagocytic cells within the lung parenchyma. The third patient showed alveolar wall infiltration by haemophagocytic histiocytes and lymphocytes. In early childhood acute or recurrent interstitial pneumonia should prompt a search for haemophagocytic histiocytes, and familial haemophagocytic lymphohistiocytosis should be included in the differential diagnosis.
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PMID:Familial haemophagocytic lymphohistiocytosis. A report of three cases with unusual lung involvement. 786 84

Indirect enzyme immunoassay, performed with Labsystems (Helsinki) kits, in 30 mothers and their newborns, revealed that 100% of parturient women present IgG antibody to hepatitis A (HAV), herpes simplex 1, and measles viruses, constantly transferring these antibodies to their newborns. 78.6% of the women had IgG to rubella (German measles) virus, passively transmitting them to their offsprings. Serological markers (HBsAg and anti-HBc) of hepatitis B virus infection were present in 42% of the investigated women, anti-HBc being also present in the serum of the newborns. Between the identified risk factors (in the past obstetrical history, current pregnancy, labor and early postnatal period) and the spectrum of IgG antibodies present in mothers no significant correlations were revealed. The same obvious lack of correlation between IgG antibodies and risk factors in the neonate (prematurity, low birth weight, malformations) was also found. However, the presence of IgG anti-measles (2 case), IgM anti-rubella (1 case) and IgM and HAV (4 cases) was associated, in the same order, with interstitial pneumonia, hepatosplenomegaly and death, icterus neonatorum, cardiovascular and neurologic malformations. Neither mothers nor their offsprings presented anti-HIV antibodies, suggesting that in the investigated patients no perinatal transmission had occurred.
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PMID:[The presence in pregnant women of the risk factor of serum antibodies against 9 viruses with significance in materno-infantile pathology and the transfer of these antibodies to the newborns]. 799 65

A 21-year-old man was admitted with fever, jaundice, abdominal pain and general fatigue. Other clinical manifestations revealed liver dysfunction, hepatosplenomegaly, pancytopenia and disseminated intravascular coagulation. Anti-EB virus (EA-DR-IgG) was initially elevated on admission and was decreased after that, furthermore anti EBNA was elevated in the late period of his clinical course, which indicated primary infection or secondary alteration of EBV immunity. Bone marrow examination revealed hemophagocytosis by mature histiocytes. Therefore, he was diagnosed as Virus-associated hemophagocytic syndrome (VAHS). An arterial blood gas analysis on admission showed hypoxemia and findings of interstitial pneumonia (IP) were distinctly observed on chest CT scan. Steroid therapy was then initiated and the patient responded very well. The clinical findings and laboratory data including IP, were improved. The 20 adult cases of VAHS in Japan were clinically studied and a review of the complication of VAHS with IP was also made.
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PMID:[Virus-associated hemophagocytic syndrome with interstitial pneumonia in adults and a review of literature in Japan]. 806 21


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