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)

Physicians examined the records of 47 adults with visceral leishmaniasis (VL) and HIV-1 infection who were patients at 3 urban teaching hospitals in the Andalucia region in southern Spain between January 1986 and November 1991. They wanted to identify the clinical, biological, and epidemiological features of VL in HIV-1 positive patients. 96% of the cases were diagnosed with both infections during the last 2 years of the study period and 79% between January and November 1991. All the patients had risk factors for HIV infection (65.9% IV drug use, 21.3% sexual contact, and 12.8% blood transfusion). 70% exhibited the classic symptoms of VL (fever, enlarged liver and spleen, and depressed counts of blood cells). Most patients were already very immunocompromised when VL was diagnosed. 87% had a total lymphocyte count of less than 1000 x 1 million/1 and a CD4 lymphocyte count of less than 200 x 1 million/1. In fact, 66% had full blown AIDS prior to diagnosis of VL. VL was the first severe infection in 10 cases. 68% also suffered from opportunistic infections, especially candidiasis, extrapulmonary tuberculosis, and Pneumocystis carinii pneumonia. Microscopic examination of Leishmania amastiogotes in tissue samples led to a diagnosis in 94% of cases, isolation of motile amastigotes in culture of bone marrow aspirate in 2%, and microscopic and culture in 4%. Just 46% completed a full course of treatment (pentavalent antimony, allopurinol, and/or pentamidine). Only 38% had a microbiological response. Immunofluorescence detected sizeable titers (1:40) of antileishmanial antibodies in just 31% of cases. 17% experienced clear clinical improvement. Physicians in endemic areas should consider VL in every HIV-1 infected patient with fever, hepatosplenomegaly, or hematological abnormalities to avoid underdiagnosis of leishmaniasis.
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PMID:Visceral leishmaniasis in HIV-1-infected individuals: a common opportunistic infection in Spain? 136 80

Though commonly encountered, extrapulmonary tuberculosis (TB) can sometimes present with variable clinical picture intricating the diagnosis (Avasthi et al., 2010). The nonspecific symptoms include pyrexia of unknown origin, hepatosplenomegaly, lymphadenopathy, meningitis, and, rarely, variety of hematological abnormalities, namely, anemia, pancytopenia, and leukemoid reaction (Avasthi et al., 2010). When it presents with bone marrow (BM) involvement, prognosis is usually poor (Avasthi et al., 2010, Qasim et al., 2003, and Singh et al., 2001). We, hereby, report a case of extra-pulmonary TB with a six-month history of fever associated with dizziness, fatigability, and cough. During the hospital stay, the patient showed a spectrum of interesting hematological findings, including severe pancytopenia on peripheral smear, necrotizing caseating granulomas consistent with TB on bone marrow examination. The patient showed a good clinical as well as hematological response to antituberculosis treatment. This paper highlights the significance of a hematological picture in the final confirmation of TB, which may otherwise be passed off as nutritional or other unrelated causes.
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PMID:Unusual manifestation of extrapulmonary tuberculosis. 2371 Jan 89

Gaucher disease (GD) is an inherited enzymatic defect resulting from a deficiency of acid [3-glucosidase, a lysosomal enzyme involved in the degradation of cell metabolic products. The major clinical manifestations of GD are hepatosplenomegaly, cytopenia, and bony involvement varying from asymptomatic osteopenia to severest osteoporosis and ischemic necrosis to develop irreversible orthopedic defects. Timely enzyme replacement therapy with recombinant glucosidase makes it possible to arrest disease progression and to prevent damage to the vital organs. However, GD in adult patients is frequently diagnosed in the presence of occurring osteoarticular lesions (arthrosis deformans, abnormal fractures). In these instances, besides enzyme replacement therapy, high-quality orthopedic care is required. The description of the case history of a patient undergoing splenectomy in childhood is given as a clinical example of severe osteoarticular lesion in GD and complex differential diagnosis with the intercurrent disease extrapulmonary tuberculosis.
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PMID:[Tuberculous sacroiliitis in a patient with Gaucher disease]. 2413 54

We report a series of three patients with end-stage renal disease on maintenance hemodialysis presenting with hemophagocytic lymphohistiocytosis (HLH) as an unusual manifestation of extrapulmonary tuberculosis. All three patients were middle-aged men. They presented with fever, pancytopenia, varying degrees of hepatosplenomegaly, abnormal liver function tests, coagulopathy, increased serum ferritin, and triglycerides. Tests for fever work-up were negative. Bone marrow examination revealed hemophagocytosis and caseating granuloma. Acid fast bacilli were demonstrated in two patients. The HLH-2004 diagnostic criteria suggested by the histiocytic society were followed to arrive at the diagnosis. All of them succumbed to death even before the definitive diagnosis could be made. We suggest that aggressive diagnostic work-up must be done when hemodialysis patients present with fever and pancytopenia. Priority should be toward early diagnosis and appropriate treatment to improve the prognosis.
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PMID:Hemophagocytic lymphohistiocytosis: An unusual presentation of tuberculosis in hemodialysis patients. 2530 22

Pulmonary tuberculosis can have a wide variety of presentations including hematological manifestations. We report a case of a young male patient who presented with complaints of generalized petechiae, gum bleeding, systemic lymphadenopathy, and severe thrombocytopenia. His bone marrow revealed normal megakaryocytes, and in the absence of hepatosplenomegaly, a diagnosis of immune thrombocytopenic purpura (ITP) was made. The thrombocytopenia responded to course of intravenous immune globulin. The smear made from fine-needle aspiration of cervical lymph nodes showed acid-fast bacilli. This case highlights the rare association of extrapulmonary tuberculosis with ITP.
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PMID:Immune thrombocytopenic purpura in a patient with disseminated tuberculosis: An unusual presentation. 3086 Jan 90