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)

Serum angiotensin-converting enzyme in a patient with type 2 acute neuronopathic Gaucher's disease (242 nmol/min/ml) was 10.8 times higher than values for eight patients with other hereditary neurologic abnormalities (22.5 +/- 2.0) and 9.4 times higher than those for 12 patients with other diseases (25.7 +/- 2.6) (P less than 0.001). Serum lysozyme was not elevated in the patient with type 2 Gaucher's disease. These results indicate that elevated serum angiotensin-converting enzyme in an infant with neurologic involvement and hepatosplenomegaly is suggestive of the possibility of type 2 Gaucher's disease. Typical Gaucher's cells and fibrosis were observed by light and electron microscopy of the liver. An aspect hitherto unreported in Gaucher's disease or in the liver was that approximately 20% of the collagen fibrils were of the long-spacing type, with periodicity of 1,000 to 1,100 A and diameters of 900 to 1,500 A.
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PMID:Marked elevation of serum angiotension-converting enzyme and hepatic fibrosis containing long-spacing collagen fibrils in type 2 acute neuronopathic Gaucher's disease. 20 29

Clinical, biochemical, and electron microscopic studies are presented in two brothers with Niemann-Pick disease. The clinical features include hepatosplenomegaly and mental retardation without any other neurological signs. Roentgenograms of the chest showed bilateral diffuse reticular infiltration. The amounts of sphingomyelin and cholesterol in liver were increased, and sphingomyelinase activities in both liver and skin fibroblasts were markedly reduced in Case 1. Numerous foam cells and myelin figures were observed in the liver, kidneys, bone marrow, and lymph nodes on electron microscopical examination. These cases were regarded as a variant of Niemann-Pick disease from our investigations as they have mental retardation as an exceptional symptom when they are diagnosed as type B.
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PMID:Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. 20 52

Sera of 451 children with congenital diseases and 185 tumor patients were tested for BK virus-specific antibodies by hemagglutination inhibition and IgM-immunofluorescence tests. Compared to age-matched control groups, higher percentages and significantly elevated geometric mean titers of HI antibodies were found in all patient groups tested. Of children under six months of age with congenital diseases such as dysplasia, cerebral defects, and hyperbilirubinemia and hepatosplenomegaly, 4.2% (17/402) had BK virus-specific IgM antibodies. No positive sera were found in 68 control sera. Of tumor patients 5--15 years of age, 8.6% (16/185) had IgM antibodies to BK virus. In the control group, 30% (3/99) had them. Serial serum samples from 76 tumor patients treated with cytostatic drugs showed seroconversion in three cases. No relationship between certain clinical features and BK virus infection was noted. Isolation of BK virus was successful from urines of two infants with connatal defects, six patients suffering from malignant tumors, and four patients with inherited immunodeficiencies.
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PMID:BK virus: II. Serologic studies in children with congenital disease and patients with malignant tumors and immunodeficiencies. 20 97

A simple one-vial-method was developed for the quantitative determination of sphingomyelinase activity in human leukocytes and urine, using [14C-methyl] sphingomyelin. The measured activities of healthy control persons show a higher scatter in (n=50) urine (1.2 +/- 0.5 nmol/h . ml urine) than in (n=9) leukocytes (2.15 +/- 0.35 nmol/h . mg protein). Long term tests showed that the enzyme activities in urine can best be correlated to the 24-h-creatinine excretion. A distinct loss of enzyme activity was found in dialyzed urine starting at about the third day; this did not occur in undialyzed urine. The method also shows good reproducibility in micro-tests. It is therefore suitable for screening tests (urine of persons suffering from Niemann Pick disease) and for the prenatal diagnosis of sphingomyelinosis. For one out of two children with symptoms of sphingomyelinosis (hepatosplenomegaly, mental retardation, and neurological deterioration) the diagnosis was confirmed by morphological examination of tissues obtained by biopsy. In both cases leukocytes and urine revealed normal sphingomyelinase activity. These biochemical results in conjunction with the clinical and morphological picture were indicative of type C Niemann-Pick disease.
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PMID:An improved and simple micro-method of sphingomyelinase assay in leukocytes and urine. 21 Nov 76

A case of the syndrome of sea-blue histiocyte is presented in a 53-year-old Japanese woman, which is the first recorded case in Japan. The patient had hepatosplenomegaly, bleeding manifestations, mild thrombocytopenia, fatty metamorphosis and cirrhosis of the liver, as well as abnormal serum lipid profiles. Her parents were consanguineous and her maternal grandmother with hepatomegaly died of hepatic failure. Histologically, peculiar histiocytes containing numerous, intracytoplasmic sea-blue stained granules on May-Giemsa stain were demonstrated in biopsy materials of the bone marrow, lymph node and liver. The sea-blue granules in these histiocytes proved to have histochemical staining characteristics of lipogenic ceroid-like pigment. Ultrastructurally, these granules showed membrane-bound, pleomorphic inclusions of heterogeneous nature, including electron-dense amorphous or variegatedly osmiophilic, frequently laminated materials. Enzyme cytochemically, localization of acid phosphatase activity was demonstrated in and around the intracytoplasmic inclusions. With regard to the pathogenesis of the sea-blue histiocytes in this case, it may be suggested that the existence of the abnormality in lipid metabolism plays an important role in intralysosomal ceroidogenesis in these histiocytes.
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PMID:Syndrome of the sea-blue histiocyte--the first case report in Japan and review of the literature--. 21 60

Small sick preterm infants requiring care in a neonatal intensive care unit for more than 28 days were cultured for cytomegalovirus in urine and/or nasopharynx during two periods lasting a total of 13 months. Sixteen of 51 such infants began excreting the virus at 28 to 148 days of age (mean, 55 days). In 14 of the 16, a recognizable, self-limited symptom complex developed that consisted of respiratory deterioration, hepatosplenomegaly, a remarkable gray pallor, and both an atypical and absolute lymphocytosis. All of the infants with the clinical symptom complex had underlying chronic lung disease and all had received multiple blood transfusions during their hospitalization. Acquired cytomegalovirus may be relatively common in sick preterm infants and should be distinguished from other causes of rapid deterioration.
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PMID:Acquired cytomegalovirus infection in preterm infants. 21 85

The article reports on a case of visceral leishmaniasis in a 3-year-old child of German residents in Rome who had passed two vacations on the isle of Ischia. Initial signs were intermittent temperatures, marked anorexia, hepatosplenomegaly and pancytopenia, with spontaneous recovery after three weeks. At that time, leishmania serology was already positive, whereas no leishmania were found in several bone marrow preparations despite a most thorough search. During the following eight weeks, the patient had chickenpox and mumps. During the mumps, relapse of the visceral leishmaniasis occurred, associated with a dramatic increase of the hepatosplenomegaly and recurring pancytopenia. It was only now that we could discover multiple leishmania infection of the bone marrow. Subsequent therapy with sodium stibogluconate (Pentostam) was effective without any complications, and eventually cured the patient.
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PMID:[Visceral leishmaniasis (Kala-Azar) in a 3-year-old German infant (author's transl)]. 22 40

A preliminary report is presented on a current prospective virological and clinical study of congenital and acquired infant cytomegalovirus (CMV) infections. During a 1-year period, 7/2200 newborn Swedish infants investigated (0.3%) had a congenital CMV infection as shown by positive virus isolation. Two of them had typical symptoms, hepatosplenomegaly and petechiae in one case and splenomegaly in the other one. All of them had a normal birth weight and normal head circumference. No sequelae have been observed during an observation period of up to 9 months. Five out of 10 control infants followed-up acquired a CMV infection within a few months. 5/7 mothers of the congenitally infected infants and 3/14 mothers of the control infants were primiparas.
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PMID:A prospective study on congenital and acquired cytomegalovirus infections in infants. 22 34

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

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


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