Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a 22-year-old male diagnosed with pro T-acute lymphoblastic leukemia (ALL). His laboratory test showed 181,900/microL of WBC complicated with lymphoadenopathy, pleural effusion, pericardial effusion and hepatosplenomegaly at the onset. Flow cytometry analysis of the leukemic cells showed cCD3+, CD7+, CD2+, CD1a-, CD3-, CD5-, CD4-, CD8-, CD34+, and HLA-DR+ as a pro T-cell phenotype. The patient was treated with induction therapy followed by 3 courses of consolidation therapy and achieved his first complete remission. He underwent up-front stem cell transplantation (SCT) from an HLA-full matched sibling, with early relapse just before transplantation. The conditioning regimen consisted of fludarabine (100 mg/m2) and melphalan (180 mg/m2). He relapsed with an extramedullary mass (gingival, testis, and femoral muscles) 1 year after transplantation. Since bone marrow involvement was not apparent, he received involved field radiation therapy (25.2 Gy/14 frequencies) in each mass. Six months after extramedullary relapse, bone marrow relapse occurred, and the patient died of sepsis due to Pseudomonas aeruginosa during re-induction therapies. Based on the immature T cell phenotype frequently with myeloid markers, a graft-versus- leukemic effect might be expected after allogeneic SCT for Pro T-ALL and a positive indication of SCT for this disease should be considered.
 ...
PMID:[Limited but potential efficacy by graft-versus-leukemia (GVL) for Pro T-ALL]. 1901 41

The numbers of syphilis cases have been increasing considerably, especially in eastern europe, thereby contributing towards greater chances of cases of congenital syphilis. Some of the complications of congenital syphilis can be detected on two-dimensional ultrasonography (2DUS), and these are generally manifested in the second trimester of pregnancy. The commonest ultrasonographic signs are hepatosplenomegaly, placentomegaly, and fetal growth restriction, while lower-frequency occurrences include intrahepatic calcifications, ascites, fetal hydrops, and even fetal death. Three-dimensional ultrasonography (3DUS) is a relatively new imaging technique that is adjuvant to 2DUS and enables detailed assessment of the fetal surface anatomy. We present a case of a 21-year-old primigravida with a diagnosis of congenital syphilis, with obstetric 2DUS findings of hepatosplenomegaly, ascites, pericardial effusion and hyperechogenicity of the cerebral parenchyma. 3DUS in rendering mode allowed clear assessment of the fetal limbs, especially the feet, which appeared twisted and lacked some toes. It allowed the parents to understand the pathological condition better and improved prenatal management and neonatal followup. 3DUS can be used routinely for assessing fetal malformations resulting from congenital infections.
 ...
PMID:Prenatal diagnosis of congenital syphilis using two- and three-dimensional ultrasonography: case report. 2295 81

Gaucher's disease is a rare lysosomal storage disorder. Excess accumulation of glucosylceramide predominantly occurs in abdominal viscera. Cardiac involvement is rare, though they generally represent as restrictive cardiomyopathy and pericarditis. Our case, a 19-year old boy initially presented with hepatosplenomegaly but later diagnosed with haemorrhagic pericardial effusion. Enzyme supplementation gives successful outcome but our case was managed symptomatically with pericardiocentesis.
 ...
PMID:Haemorrhagic pericardial effusion in type I Gaucher's disease. 2497 96

A 23-year-old woman presented with a persistent fever and shortness of breath. Computed tomography showed marked pericardial effusion, hepatosplenomegaly, and cervical and mediastinal lymph node swelling. Epstein-Barr virus (EBV) antibody titers were abnormally elevated, and the copy number of EBV-DNA was increased in peripheral blood. Based on these observations, she was diagnosed with chronic active EBV infection (CAEBV). The EBV-infected cells in her peripheral blood were CD4(+)T lymphocytes. Fever and pericardial effusion improved following treatment with a combination of prednisolone, etoposide, and cyclosporine; however, peripheral blood EBV-DNA levels remained high. The patient underwent allogeneic peripheral blood stem cell transplantation from an EBV-seronegative, HLA-matched sibling donor, with fludarabine and melphalan conditioning. The post-transplantation course was uneventful, except for mild skin acute graft-versus-host disease (grade 2). EBV-DNA became undetectable in peripheral blood 98 days post transplantation. She has since been in good health without disease recurrence. CAEBV is a potentially fatal disease caused by persistent EBV infection of T lymphocytes or natural killer cells, thus requiring prompt treatment and allogeneic transplantation. Pericardial effusion is rarely observed in CAEBV and can impede its diagnosis. Therefore, we should be aware that patients may present with marked pericardial effusion as an initial manifestation of CAEBV.
 ...
PMID:Chronic active Epstein-Barr virus infection with marked pericardial effusion successfully treated with allogeneic peripheral blood stem cell transplantation. 2726 89

Polyneuropathy, Organomegaly, Endocrinopathy, M protein and Skin changes (POEMS) syndrome is rare plasma cell dyscrasia with multisystem involvement. The name comes from the five characteristic features: Polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes. The presence of biclonal M band is a rare manifestation. Here, we are describing the cases of a 60-year-old lady, presented with bilateral pedal oedema and pericardial effusion and peripheral neuropathy. She also had hepatosplenomegaly, hyperpigmented rash and hypothyroidism and hyperparathyroidism. The serum protein electrophoresis and the immunofixation electrophoresis revealed two distinct monoclonal bands, immunoglobulin IgG kappa and IgA lambda. There was a mild increase in plasma cells and sclerotic bone lesion in pelvis. The POEMS syndrome is generally associated with lambda light chain restriction. The presence of biclonal gammopathy involving kappa and lambda is a rare manifestation. The pathogenic or prognostic role of different paraprotein is not known. Further studies are required to delineate such effect.
 ...
PMID:POEMS Syndrome with Biclonal Gammopathy: A Rare Association. 2889 29

Human African trypanosomiasis imported to nonendemic countries is rare. It is very difficult to establish the correct diagnosis of human African trypanosomiasis in nonendemic areas. We present a case of human African trypanosomiasis with MRI and FDG PET/CT findings. Head MRI showed hyperintense areas in bilateral internal capsules. Abdominal and pelvic MRI showed hepatosplenomegaly and multiple enlarged lymph nodes. FDG PET/CT showed generalized hypermetabolic lymph nodes, diffuse FDG uptake of the spleen, and hepatosplenomegaly mimicking lymphoma. In addition, FDG PET/CT revealed decreased FDG uptake in the medial occipital cortex and cardiomegaly with pericardial effusion.
 ...
PMID:FDG PET/CT in a Case of Human African Trypanosomiasis (Sleeping Sickness). 2986 73


<< Previous 1 2 3