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)

This case (a young man) presented a clinical picture of a hard periorbital edema, hepatosplenomegaly and a mild bilateral pulmonary fibrosis. The histopatological pattern of our case (as well as his sister affected with the same syndrome) was characterized by the presence of macrophages full of blue staining granules and bone marrow macrophagic infiltrations. In the pulmonary function tests the volumes and compliance test and diffusing capacity were normal. The enzymatic deficit of the macrophage leads to the increase storage of phosphoglicerides and phosphosphingolipids responsibles for the blue staining with Wright-Giemsa stain. Our case fit into the specific pathology of the macrophage cell in accordance with the more recent views of the autonomy of the MPS (Mononuclear Phagocytic System). The known relationship between macrophages and T and B lymphocites have prompted us to study the cellular and humoral immunological behaviour of our case. We have observed an increased IgM immunoglobulins and an increase of IgM surface membrane receptors. Our results will be illustrated and compared with the until known 70 publicated cases.
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PMID:[Sea-blue histiocytosis. Clinical and immunological study of a familial case]. 10 14

A Mexican-American boy presented at birth with an extensive eruption consisting of 0.5 to 1.0 cm hyperpigmented macules with a distinct peripheral scale involving primarily the forearms, abdomen and lower back (Fig. 1). Rare intact vesicopustules were also identified. There was an unremarkable prenatal history, and the infant was a product of a normal vaginal delivery. With the exception of the skin lesions and moderate hepatosplenomegaly, the physical examination was normal. Gram stains of the pustules showed numerous neutrophils but no bacteria. Bacterial cultures, of the skin and blood, TORCH screen (toxoplasmosis, rubella, cytomegalic virus, and herpes virus) and a VDRL were negative. On the second day of life, the patient developed several pustules with surrounding erythema consistent with erythema toxicum neonatorum. Wright-stained smears of these lesions showed abundant eosinophils. Hepatosplenomegaly resolved by the third day of life and at the time of discharge only hyperpigmented macules persisted. Follow-up visit six weeks later showed no evidence of skin lesions.
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PMID:Transient neonatal pustular melanosis. 51 27

Malignant histiocytosis (MH: sinusoidal hematolymphoid malignancy) is a rare lymphoreticular disorder characterized by an aggressive clinical course in younger patients with weight loss, hepatosplenomegaly, generalized lymphadenopathy and pancytopenia. Five cases of MH were identified over a five-year period (1982 to 1987) at Indiana University Medical Center. The patients' ages were 12, 16, 20, 30 and 57 years; all presented with classic clinical symptoms. Four cases were diagnosed by fine needle aspiration biopsy; one case was diagnosed by the examination of ascitic fluid. All patients had confirmatory surgical biopsies. The salient cytologic features of MH included (1) a lack of background lymphoglandular bodies, (2) a population of variably sized dyscohesive cells, (3) a component of large bizarre cells with abundant eccentric, deep-blue cytoplasm on Wright-Giemsa-stained preparations, (4) prominent cytoplasmic vacuolization and (5) inconspicuous erythrophagocytosis occurring in the most benign-appearing histiocytic cells. Ancillary studies on cytologic and histologic material (immunostaining for alpha-1-antichymotrypsin and alpha-1-antitrypsin and staining for nonspecific esterases) confirmed the histiocytic nature of the malignant cells. Recognition of the distinctive morphology of MH and the performance of ancillary studies on cytologic preparations should facilitate the rapid diagnosis and early treatment of this aggressive disease.
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PMID:The cytology of malignant histiocytosis (sinusoidal hematolymphoid malignancy). 278 72

We describe a case of disseminated Penicillium marneffei infection in a patient infected with human immunodeficiency virus. The diagnosis was made by examination of a peripheral blood smear. The patient presented with fever, jaundice, generalized lymphadenopathy, hepatosplenomegaly, and an erythematous, papular rash. Microscopic examination of a Wright's-stained peripheral blood smear revealed many yeast cells in neutrophils. Some yeast cells had clear central septation. Presumptive diagnosis of disseminated P. marneffei infection was made, and treatment was started several days before the culture results were available.
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PMID:Disseminated Penicillium marneffei infection diagnosed on examination of a peripheral blood smear of a patient with human immunodeficiency virus infection. 816 35

We report a comprehensive study of a case of aggressive natural killer cell lymphoma/leukemia, which is characterized by young male predominance, rapidly progressive clinical course, and presence of lymphadenopathy, hepatosplenomegaly, and bone marrow involvement. The leukemic phase is frequently preceded by pancytopenia. The diagnostic clues are the detection of cytoplasmic granules in tumor cells on Wright-Giemsa-stained tissue imprints or smears and a selective loss of T-cell antigens. Immunophenotyping is decisive in making the final diagnosis by showing positive natural killer cell markers (CD16, CD56, and/or CD57), CD2, CD11c, and Ia, but negative CD3, T-cell receptor heterodimers, terminal deoxynucleotidyl transferase, and B-cell markers. Genotyping always shows germline configuration in both immunoglobulin and T-cell receptor genes. The unique feature in this case is its presentation as a testicular lymphoma, which has not been previously reported. Polymerase chain reaction was performed in this case but failed to detect human T-cell leukemia virus type I/II provirus. It is important to recognize this new entity as it is a highly aggressive disease with a rapidly progressive clinical course and fails to respond to any chemotherapeutic regimen available.
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PMID:Aggressive natural killer cell lymphoma/leukemia. A recently recognized clinicopathologic entity. 855 18

A 68-year-old woman, who had not traveled outside of western Wisconsin, was hospitalized after 4 weeks of chills, fevers, myalgias, neuralgias in her right arm, and pain in the right upper quadrant of her abdomen. Physical examination revealed hepatosplenomegaly, and laboratory studies showed anemia, thrombocytopenia, increased aspartate transaminase level, and microscopic hematuria. Wright's stain of a blood smear revealed intraerythrocytic organisms consistent with Babesia species. A polymerase chain reaction of whole blood specimens along with an increased serologic titer confirmed the diagnosis of Babesia microti. Indirect immunofluorescent antibody serology and Western blot analysis revealed a simultaneous infection with Borrelia burgdorferi. Coinfection with B. microti and B. burgdorferi may occur in endemic areas where both organisms are carried by the same tick vector, Ixodes scapularis. The intensity and duration of illness seem to be greatest in patients with concurrent infection.
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PMID:Coinfection with Babesia microti and Borrelia burgdorferi in a western Wisconsin resident. 955 37

Giant tumor cells and their varieties in the bone marrow were found in 7 patients with abnomal hematopoiesis phenomena. These cells were artificially devided into 5 kinds according to the difference of their morphology. Most of these cells were corresponding to lymphoid-monocytoid-macrophagocytoid cells with Wright's staining, cytochemical stainings, immunocytochemical stainings, flow cytometry examination, electron microscopy and pathologic study. The bone marrows were hypercellular and marked dysplastic hematopoiesis phenomena. Two of the 7 cases were diagnosed as malignant lymphoma with bone marrow biopsy. All cases characteristically showed no lymph node enlargement or hepatosplenomegaly or any local tumor mass. As to the prognosis of these cases, two patients died with survival time of 8 and 17 months, respectively, one was on critical condition at course of 10 months, and the other 4 cases were in comparatively stable condition with courses of 2.5 to 24 months. These patients seem to be a group of rare malignant lymphoid-monocytoid-macrophagocytoid proliferative diseases.
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PMID:[Giant Tumor Cells in the Bone Marrow and Their Significance] 1257 5

To explore the clinical and pathological characteristics of hepatosplenic gammadelta T-cell lymphoma and its relationship with Epstein-Barr virus infection, the clinical features of a 9-year-old girl with hepatosplenic gammadelta T-cell lymphoma were investigated, the smears of bone marrow was stained with Wright' s stain, biopsies of bone marrow and liver specimen were embedded in plastic and sliced about 4 microm in thickness and routinely stained with HE staining, the immunohistochemical staining was used to mark the tumor cells, and EBER probes were used to detect Epstein-Barr virus RNA. The results showed that the girl presented with prolonged fever, anemia, thrombocytopenia, hepatosplenomegaly, chronic active Epstein-Barr virus infection, and elevated levels of serum ferritin and lactate dehydrogenase. Bone marrow aspirate revealed the infiltration of atypical lymphocytes in the bone marrow stroma. The liver biopsy specimen revealed the infiltration of lymphocytes in the sinusoids, which was positive for the T-cell associated marker CD3 and activated cytotoxicity-associated marker granzyme B. In-situ hybridization analysis with EBER probes revealed that the above-mentioned characteristics were negative in neoplastic cells. It is concluded that hepatosplenic gammadelta T-cell lymphoma is a disease with distinctive clinical, histopathologic, and phenotypic characteristics. Hepatic and/or splenic and/or bone marrow biopsy with combined phenotype is beneficial to diagnosis. Epstein-Barr virus infection is late event involving an already transformed gammadelta T-cell clone.
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PMID:[Hepatosplenic gammadelta T cell lymphoma and its relationship with Epstein-Barr virus infection]. 1720 79

A clinically unremarkable 4.5-mo-old female Crl:CD1(ICR) VAF/Elite mouse was euthanized for scheduled sentinel processing. Gross necropsy findings included significant hepatosplenomegaly and visceral lymphadenomegaly, resulting in a preliminary gross diagnosis of lymphoma. Histology revealed florid accumulations of large, 'foamy' macrophages present in the bone marrow, small intestines, and viscera including liver, spleen, lymph nodes, thymus, uterus, and ovaries. The cytoplasm of these cells was abundant, stained pale blue with Wright-Giemsa and was periodic acid-Schiff positive. Given these characteristic gross and histologic findings, a spontaneous lysosomal storage-like disease was diagnosed in this mouse. Cholesterol ester storage disease is likely, because of the visceral involvement with sparing of the CNS, but could not be diagnosed definitively. To our knowledge, this report is the first to describe a case of spontaneous lysosomal storage disease in an outbred mouse of the CD1(ICR) background.
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PMID:Presumptive Spontaneous Lysosomal Storage-Like Disease in a Crl:CD1(ICR) Mouse. 2822 36