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 65-year-old white female patient with normal baseline renal function was referred to our hospital with nonoliguric renal failure requiring hemodialysis after progressive deterioration over the previous 6 months. Her past medical history was remarkable for easy fatigability, weight loss, low-grade fever, hypogammaglobulinemia and mild hepatosplenomegaly manifested over the past 6 years. Several liver and bone marrow biopsies during that period had shown a nonspecific polyclonal T-cell infiltration, and she was administered low-dose steroids for symptomatic relief. Physical examination, laboratory workup and imaging studies at presentation showed pancytopenia, hepatosplenomegaly, large symmetric kidneys with normal cortices and no evidence of obstructive uropathy, aseptic pyuria with neutrophils and lymphocytes and mild proteinuria. On biopsy the renal interstitium was infiltrated by large, granular CD3+CD8+CD56-CD57+ lymphocytes, clonal by molecular analysis, which established the diagnosis of T-cell large granular lymphocyte leukemia. Most urinary and peripheral blood lymphocytes bore the same T-LGL surface markers and were also clonal, as shown by flow-cytometry and PCR amplification of the T-cell receptor g-chain genes. A subsequent bone marrow biopsy revealed infiltration by lymphoma cells and excluded a myelodysplastic or hemophagocytic syndrome. After exclusion of an underlying EBV, CMV, HBV, HCV or HIV infection with negative serology and blood PCR the patient received one cycle of chemotherapy with cyclophosphamide, vincristine and prednisone. No improvement of renal function was achieved, while complication with a prolonged pulmonary infection and severe sepsis precluded further treatment. Our report indicates that the T-LGL leukemia should be considered in the differential diagnosis of renal failure with large-sized kidneys, especially when hepatosplenomegaly, pancytopenia and aseptic pyuria are also present. In the latter case, flow-cytometric and clonality analysis of the urine sediment can aid in establishing a diagnosis. Since renal function may deteriorate rapidly, chemotherapy should not be delayed.
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PMID:T-cell large granular lymphocyte leukemia presenting as end-stage renal disease: the diagnostic role of flow-cytometric and clonality analysis of the urine sediment. 1920 16

We present a patient who developed carbamazepine (CBZ)-induced Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome associated with high serum procalcitonin (PCT). The presentation (high fever, hepatosplenomegaly, leukocytosis), high PCT and CRP initially suggested sepsis, and he was treated with antibiotics, while CBZ was continued. The rash and hepatitis worsened. After withdrawal of CBZ, corticosteroid therapy was administered and the patient recovered with normalization of PCT. This case demonstrates that PCT may be increased in patients with DRESS. This is the first report of CBZ-induced DRESS associated with high PCT, and the second case of increased PCT in DRESS.
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PMID:High procalcitonin in a patient with drug hypersensitivity syndrome. 1968 1

Although rare, Munchausen syndrome by proxy (MBP) is a potentially life-threatening form of child abuse. Here, we report a 19-month-old female infant who presented with hepatosplenomegaly, anemia, thrombocytopenia, and recurrent septicemia. She was initially thought to have myelodysplastic syndrome. Further hematological and immunological investigations revealed no cause. beta-Glucosylceramidase enzyme activity on dried blood spot was suggestive of Gaucher disease. However, the enzyme level on cultured skin fibroblast was not consistent with Gaucher disease. The first hint about MBP was the recurrent sepsis with numerous gram negative rods. Furthermore, the mother's behavior and health history raised our suspicion about MBP. The child showed significant improvement after she was separated from the mother for a week. Finally, the mother confessed that she was spitting in local herbs and injecting it into the central line. This is, to our knowledge, the first report of MBP resembling in its presentation Gaucher disease. This case should alert the general and specialized pediatricians about MBP, as it may mimic metabolic diseases like Gaucher disease.
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PMID:Munchausen syndrome by proxy mimicking as Gaucher disease. 2003 62

Hemophagocytic lymphohistiocytosis (HL) is a rare syndrome, although more common in children, that may be underdiagnosed. The clinical presentation can be aggressive, and patients may rapidly develop lethal multiple organ failure....HL simulates the presentation of infectious sepsis, although the response to treatment and evolution are worse. HL should be suspected in young children with persistent fever of unknown origin, general malaise, hepatosplenomegaly, cytopenia, elevated triglycerides and ferritin, and decreased fibrinogen. Brain MRI shows diffuse leptomeningeal and perivascular enhancement, patchy areas of hyperintensity in the white matter of both cerebral hemispheres on T2-weighted sequences, and cerebral atrophy. Diffusion-weighted sequences are useful for staging the lesions. We present a fatal case of familial HL and review the literature about the clinical, histological, and radiological characteristics of this disease.
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PMID:[Familial hemophagocytic lymphohistiocytosis: Neuroradiological findings]. 2004 6

Gaucher's disease (GD) may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy with imiglucerase. GD is associated with cytopenia, bone complications, hepatosplenomegaly, hypermetabolism, and hyperactivity of the immune system manifested by polyclonal hyper gamma-globulinemia and an increased incidence of monoclonal gammopathies. High ferritin and presence of autoimmune antibodies may present and because of these abnormalities, clinical similarities with primary liver diseases may occur. We report on two patients who suffered diagnostic delay that could potentially lead to life-threatening manifestations of GD. Potential complications include: avascular necrosis, severe bleeding, chronic bone pain, life-threatening sepsis, pathologic fractures, growth failure, and liver pathology. Physician awareness will increase the likelihood of prompt detection of GD and improve its management.
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PMID:Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease. 2009 36

A 32-year-old male with chronic hepatitis B was admitted to a hospital with cellulitis in the right leg in September 2006. Pancytopenia, hepatosplenomegaly, and systemic superficial lymph node swelling were noted, and he was referred to our hospital. He developed fever and liver dysfunction in June 2007 and underwent a splenectomy. His pancytopenia subsequently improved. A pathologic diagnosis of hepatosplenic alphabeta T cell lymphoma was made by examining spleen tissue and biopsy specimens of the liver and mesenteric lymph node. He had stage IVB disease because neoplastic T cells were noted in the bone marrow. The response of the lymphoma to conventional chemotherapy including the CHOP (cyclophosphamide, adriamycin, vincristine, prednisolone) and DeVIC (dexamethasone, etoposide, ifoshamide, carboplatin) regimens was poor and transient. A partial remission was obtained with an ESHAP (etoposide, cisplatin, cytarabine, methylprednisolone) regimen. Therefore, we planned a bone marrow transplantation (BMT) from an HLA-haploidentical sibling donor. He was moved to the Department of Hematology, Hyogo Medical College, to receive this BMT as part of a clinical trial. During the conditioning procedure for the transplantation, however, he died of septicemia. Since hepatosplenic alphabeta T cell lymphoma is very rare with only 23 reported cases to date, herein we report this case and discuss the therapeutic strategy.
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PMID:Hepatosplenic alphabeta T cell lymphoma. 2021 52

Macrophage activation syndrome is a form of secondary haemophagocytic lymphohistiocytosis seen in the context of rheumatic diseases. It is seen most frequently in association with systemic onset juvenile arthritis or childhood Still's disease. Hemophagocytosis is part of a sepsis-like clinical syndrome caused by hypercytokinemia due to a highly stimulated but ineffective immune response. Coagulopathy and hemorrhages, decreased white cell count, elevated levels of aspartate aminotransferase, fever, rash, hepatosplenomegaly and central nervous system dysfunction are some of diagnostic criteria of macrophage activation syndrome, but it is very difficult to diagnose due to the lack of specific clinical signs. We report a 8-year-old child who was admitted to the ICU with lethargy, fever, acute respiratory failure, coagulopathy, metabolic acidosis and multiorgan failure. Septic shock was suspected, but he was diagnosed with macrophage activation syndrome and treated with corticosteroids and intravenous immunoglobulin and later discharged from the ICU.
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PMID:[Multi-organ failure as first clinical sign of macrophage activation syndrome in childhood Still's disease]. 2064 91

Eighteen day old neonate presented with features of early neonatal sepsis. History of mother revealed a travel from non-endemic area of malaria to endemic area, and on the 7th gestational age mother detected as having malaria. She was treated with quinine and cured. Baby was also evaluated for congenital malaria in first few neonatal days and discharged. Now the baby on evaluation shows anemia, hepatosplenomegaly and diagnosed with a Plasmodium vivax infection on peripheral smear. The quinine failed to prevent transplacental transmission. Prolonged interval between birth and onset of symptoms may be explained by transmission late in pregnancy or during delivery or by presence of transplacentally acquired maternal antibody (IgG). Mother acquired malarial infection after travel to an endemic area and transmitted to the baby. A high level of suspicion is warranted in babies of malaria infected mothers even when the neonate peripheral smear shows no evidence of infection.
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PMID:Congenital malaria--a case report from a non-endemic area. 2096 32

Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is a rare and frequently fatal disorder caused by an uncontrollable and ineffective systemic immune response. Patients initially present with fever, cytopenia, and hepatosplenomegaly, and subsequently develop multiorgan failure (MOF). Hemophagocytosis can be found on biopsy specimen but is not required. Acquired forms of HLH can occur in apparently healthy adults, while children present more often with an inherited form of the disease. Since HLH often presents with sepsis-like symptoms and organ dysfunction, patients are usually treated for presumed sepsis, which inevitably leads to delayed diagnosis and treatment. Intensivists need to have a low threshold for suspecting this disorder when previously healthy individuals present with a fulminant sepsis-like syndrome, which are unresponsive to conventional treatment. We present 3 patients with HLH who were admitted to our adult medical intensive care unit (MICU) over a 2-year period with fatal outcomes and emphasize the diagnostic importance of markedly elevated serum ferritin levels and the need for tissue biopsy in making an accurate diagnosis in a timely manner.
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PMID:What intensivists need to know about hemophagocytic syndrome: an underrecognized cause of death in adult intensive care units. 2596 95

Congenital cutaneous candidiasis (CCC) is an extremely rare disorder that presents within the first 6 days of life. The manifestations ranges from diffuse skin eruption without any systemic symptoms to respiratory distress, hepatosplenomegaly, sepsis, and death. We report a neonate who presented with generalized skin eruptions at birth, characterized by erythematous macules and papules. The eruption involved head, face, neck, trunk, and extremities. Candida albicans was demonstrated on direct KOH smear, skin biopsy. The disease implies a congenital intrauterine infection and is different from neonatal candidiasis, which manifests as thrush or diaper dermatitis. The infection is acquired from the maternal genital tract in an ascending fashion. Clinical features, direct smear examination of specimen, and appropriate cultures are useful in differentiating the lesions from other more common dermatoses of the neonatal period. Topical antifungal therapy is sufficient unless systemic candidiasis is present. Prognosis for congenital cutaneous candidiasis is good.
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PMID:Congenital cutaneous candidiasis: a rare and unpredictable disease. 2157 3


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