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 newborn infant presented with hepatosplenomegaly, rash, anemia, and leukocytosis at one day of age and manifested characteristic myeloid metaplasia by one mouth of life. Vitamin B12 and leukocyte alkaline phosphatase were elevated and platelet aggregation was impaired. Myelofibrosis was not present and neutrophil function was preserved. An unidentified high isoelectric point hemoglobin with unusual chromatographic and electrophoretic behaviors was found to comprise 12% of the total hemoglobin. The myeloid metaplasia and mutant hemoglobin disappeared over the subsequent months without biochemical or clinical residual. The available evidence was consistent with the mutant hemoglobin representing either a gamma chain or clonal embryonic chain variant. The inability to clarify prognostic factors in these unusual myeloproliferative syndromes suggests caution in the initiation of cytotoxic therapy.
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PMID:Transient myeloid metaplasia associated with an unusual hemoglobin in a newborn infant. 9 73

Malignant osteopetrosis is the autosomal recessive form of osteopetrosis. Besides anemia, hepatosplenomegaly, and the osteopetrotic bone seen on roentgenogram, the head and neck manifestations are important to the diagnosis and clinical course of this disease. Eye, ear, nose, face, teeth, mandible, maxilla, central nervous system structures, and cranial nerves are often involved.
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PMID:Head and neck manifestations of malignant osteopetrosis. 11 52

Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.
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PMID:Myeloproliferative disease of childhood associated with a trisomy 21 clone. 11 7

The case is reported of a 4-year-old girl affected with recurrent infections; anaemia, thrombocytopenia, haemorrhages and hepatosplenomegaly. Immunological investigations revealed a defect in cellular immunity related to the thymus-dependent system, hypergammaglobulinaemia (especially of class IgE), and very high titres of antibodies against Epstein-Barr virus (EBV). After foetal thymus transplantation, correction of the immunological defect and significant clinical improvement were noted, as well as a decrease of IgE and EBV antibody titres.
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PMID:Thymus transplantation. Reconstitution of cellular immunity in a four-year-old patient with T-cell deficiency. 17 Nov 11

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

Children with leukemia who have extremely high leukocyte counts (more than 100,000/mm3) when seen initially are at high risk of early sudden death, usually from massive intracerebral hemorrhage. Nine such patients were seen during a 39-month period. Eight had pronounced adenopathy and hepatosplenomegaly without severe anemia or thrombocytopenia. The first six patients died suddenly. Cerebral perivascular infiltration and increased blood viscosity are the probable pathophysiologic mechanisms. A treatment program was developed, the goal being the early elimination of blast cells. Three consecutive patients patients presenting with leukocyte counts greater than 100,000/mm3 were treated with emergency cranial irradiation, and all three survived to receive systemic chemotherapy.
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PMID:Extreme leukemic leukocytosis (blast crisis) in childhood. 27 32

Blood volume was measured using 125iodinated human serum albumin in 27 children with acute lymphoblastic leukemia, and in 7 children with various types of leukemia. Total blood volume was normal in patients without marked enlargement of spleen and liver, and increased progressively as spleen and liver size increased. The hypervolemia was entirely due to expansion of plasma volume. In the children with marked hepatosplenomegaly, only hematocrit (but not red cell mass) was below the normal range in most cases. Both hematocrit and red cell mass were subnormal in the majority of patients without considerably enlarged spleen and liver. Therefore, anemia in children with marked hepatosplenomegaly may be partly caused by hemodilution of red blood cells in expanded plasma volume.
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PMID:Blood volume of children with leukemia. 27 98

The data on 31 patients who fit into the clinical spectrum of subacute myeloid leukemia have been reviewed. The majority of patients were male with a median age of 61 years. The interval from onset of symptoms to actual diagnosis was extremely variable, with a mean of 16 months and a median of six months. Most patients presented with anemia and thrombocytopenia, although the white blood cell count varied from striking leukopenia to marked leukocytosis. Examination of the bone marrow invariably revealed abnormalities of all cell lines with megaloblastoid erythrogenesis and dysplastic megakaryocytopoiesis. Although the white cell line showed prominence of immature forms, there was more maturation than is seen in acute myeloid leukemia. Survival from diagnosis was variable, from less than one month to greater than 68 months, with a median of only six months. Anemia and hepatosplenomegaly were prognosticators of a poor outlook; patients with hepatosplenomegaly in association with either leukocytosis or thrombocytopenia had a particularly poor outlook, with a median survival of only one and a half months. Approximately half the patients received chemotherapy with no demonstrated effect on survival.
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PMID:Subacute myeloid leukemia: a clinical review. 28 73

Immunoblastic lymphadenopathy is a recently described lymphoproliferative disorder, presumably of B-cell origin. It is characterized by regional or generalized lymphadenopathy, usually associated with hypergammaglobulinemia or dysproteinemia. Other findings may be hepatosplenomegaly, dermatitis, fever, malaise, weight loss, and various altered immunologic reactions. Histologically, the involved lymph nodes show immunoblast, plasmacytoid, and plasma cell proliferation. This may be extranodal as well. The case reported here is one of the few followed up prospectively. The patient's purpuric eruption was an apparent manifestation of a type II mixed cryoglobulinemia. Differing from what has usually been reported, we noted hypogammaglobulinemia and findings in part of altered cell-mediated immunity. Despite leukopenia and anemia there were no infectious episodes. Although a satisfactory treatment regimen has not been established, there was beneficial response to prednisone and short courses of melphalan.
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PMID:Immunoblastic lymphadenopathy with purpura and cryoglobulinemia. 30 Oct 9

This work is a retrospective study of 50 cases of DHX, collected over a period of 27 years. 24 children died, 26 are still alive. The prognosis for DHX was neither dependent on age (usually occurring in children under 2 years) nor on histological findings but on the extent of the lesions. It was possible to establish a clinical staging system distinguishing 2 groups. One, where the disease was severe and almost always fatal, often included the combined symptoms of thrombocytopenia, spontaneous anemia, jaundice, hepatosplenomegaly, respiratory insufficiency and absence of osteolytic lesions. The other, with a favorable prognosis, was characterized by skin lesions, diabetes insipidus, exclusively radiological pulmonary involvement and multiple bone lesions. In cases where death did not occur, DHX was often chronic, frequently persisting for 2 years or more and leading to serious sequelae such as diabetes insipidus, growth stunting, intellectual retardation, blindness or deafness.
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PMID:Disseminated histiocytosis X: analysis of prognostic factors based on a retrospective study of 50 cases. 31 67


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