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)

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 3 6/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia combined with hepatosplenomegaly and muscular hypotonia is described.
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PMID:[Micromelic type of spondylo-meta-epiphyseal dysplasia (author's transl)]. 51 76

We report on a 20-year-old male with a beta-glucuronidase (GUSB) deficiency mucopolysaccharidosis. He had pectus carinatum, gross thoracic kyphoscoliosis, and hip dysplasia, a picture which became conspicuous after age 4 years. Hepatosplenomegaly, herniae, corneal clouding, and neurological abnormalities were absent. Although he had Alder-type granulations in his polymorphonuclear leukocytes, the urine did not contain a significant excess of mucopolysaccharides. Electron microscopic examination of skin and gingival biopsies, leukocytes, and cultured skin fibroblasts showed numerous single membrane-limited vacuoles either empty or filled with fibrillogranular material; this last tissue did not contain metachromatic granules. Radiographs demonstrated a distinct spondyloepiphyseal dysplasia in which the most striking changes were confined to the thoracic spine (flattening and collapse in T7, T8 and T10 vertebral bodies) and to the femoral capital epiphyses (irregularities and fragmentation). The activity of GUSB in the patient's serum, leukocytes, and fibroblasts was severely decreased; the GUSB activity in the serum and leukocytes from the parents and 2 asymptomatic sibs was subnormal. Immunoblot analysis showed very low levels of cross-reactive material towards anti-GUSB antiserum in the patient's leukocyte and fibroblast extracts. This patient was more severely affected in his skeleton than other described patients with an oligosymptomatic chronic form. This case broadens the clinical and biochemical picture associated with GUSB deficiency and may represent a new variant of the disease.
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PMID:Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia. 145 83

A rare association of multisystemic manifestations with plasma cell dyscrasia has been termed POEMS syndrome, which includes polyneuropathy, organomegaly, endocrinopathy. M-protein, and skin changes. From literature reports, organomegaly consists of hepatosplenomegaly and/or lymphadenopathy. We here present a case of POEMS syndrome that had most of the typical features of POEMS, except that organomegaly only involved the heart. The patient's multiple clinical manifestations, including cardiomyopathy, improved with chemotherapy, which is characteristic of POEMS syndrome. However, cardiomegaly or cardiomyopathy have not previously been described with POEMS. The present case suggests that cardiomegaly and cardiomyopathy may be added to the organomegaly in POEMS.
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PMID:POEMS syndrome presenting with cardiomegaly and cardiomyopathy. 153 13

POEMS (acronym for polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes) is a very rare syndrome probably related to plasma cell dyscrasia. A 43 year old man developed a progressive symmetric sensory motor polyneuropathy 2 years before admission. Hepatosplenomegaly and sclerodermatoid skin changes were present on physical examination. A sclerotic lesion of the right femur was disclosed by radiologic examination. Serum immunoelectrophoresis demonstrated a monoclonal protein IgG-lambda pattern and the bone marrow biopsy revealed an increased plasma cell count (15%). The patient died 7 months after admission from pneumonia. A review of the literature is included.
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PMID:[Poems syndrome: review of a case]. 184 55

We describe a case of progressive diaphyseal dysplasia occurring sporadically in a 25-year-old woman. This patient had menorrhagia, and severe anemia and hepatosplenomegaly, unusual clinical features of this disease.
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PMID:Progressive diaphyseal dysplasia: case report and literature review. 220 43

POEMS (polyneuropathy, organomegaly [hepatosplenomegaly or lymphadenopathy], endocrinopathy, M protein, and skin changes) syndrome is an uncommon plasma cell dyscrasia with diverse manifestations, including lymphadenopathy as well as those that comprise the acronym. Dermatologic changes may include hyperpigmentation, thickened skin, hypertrichosis, and papular angiomas. These changes are believed to result from humoral products of the plasma cell clone and frequently resolve with treatment of the neoplasm. We describe a man with typical POEMS syndrome with a unique skin lesion: a large, sharply circumscribed, pigmented plaque on the anterior chest wall centered over a plasmacytoma of the sternum. Results of histologic examination showed a proliferation of capillaries of varying size, enlarged fibroblasts, and increased amounts of collagen and proteoglycan from the dermis to the periosteum. Because the outer cortex of the sternum was eroded, peptide mediators of vascular and fibroblast proliferation may have diffused directly from the plasma cell lesion into the tissues of the chest wall.
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PMID:Plasma cell dyscrasia: a case of POEMS syndrome with a unique dermatologic presentation. 268 Dec 92

Infection of BALB/c mice with the RLV-A virus typically results in an erythropoietic dysplasia characterized by hepatosplenomegaly, erythroblastosis, erythroblastemia and severe anemia without reticulocytosis. Mice hypertransfused weekly with 75%-packed red cells for 42 days prior to RLV-A infection and viral potency controls manifested this typical RLV-A response. Mice that were hypertransfused prior to and following RLV-A infection never developed the "typical" RLV-A pathogenesis. Instead, a transplantable myeloid leukemia was established. Although the reason for altered pathogenesis remains uncertain, it seems plausible that continued hypertransfusion, presumably after establishment of an altered granulopoietic microenvironment, resulted in a completely different viral expression and development of the transplantable myeloid leukemia.
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PMID:Sustained hypertransfusion and induction of a transplantable myeloid leukemia in RLV-A-infected BALB/c mice. 273 54

A case of plasma cell dyscrasia with polyneuropathy and endocrine disorder is reported. Clinically, polycythemia vera, gynecomastia, pigmentation of the skin, hepatosplenomegaly, renal enlargement and severe polyneuropathy in the lower extremities were recognized. The peculiarity of this case was polycythemia vera that had been present for several years before manifestation of the clinical symptoms. Microscopically, retroperitoneal lymph nodes showed angio-follicular lymphoid hyperplasia and plasma cell infiltration in the interfollicular region. By means of the avidin-biotin-peroxidase complex method, plasma cells were positive for lambda light chain, IgA and IgG. Severe segmental demyelination and slight axonal atrophy were found in a sural nerve biopsy.
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PMID:Plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes: the POEMS syndrome, associated with preceding polycythemia vera. A case report and review of the literature. 306 44

"Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.
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PMID:Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. 313 Aug 53


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