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 53-year-old male was diagnosed as having ataxic polyneuropathy associated with IgM-kappa monoclonal gammopathy in January 1988. Plasmapheresis and chemotherapy with chlorambucil and Melphalan-Prednisolone were effective for his neuropathy, but hemolytic anemia appeared in February 1989. The diagnosis of low-titer cold agglutinin disease (IgM-kappa) with anti-Pr2 specificity was made. Hemolytic anemia became refractory to high-dose corticosteroids, and fever, hepatosplenomegaly and severe pancytopenia appeared in January 1990. Bone marrow involvement of malignant lymphoma (mu, kappa) was found, and he died of pneumonia and gastrointestinal bleeding after the start of chemotherapy. Postmortem examination revealed a widespread infiltration of malignant lymphoma, diffuse, large cell (B-cell) type. Erythrophagocytic histiocytes also increased in bone marrow, liver, spleen and lymph nodes, as if there were hemophagocytic syndrome associated with lymphoma present. In addition to the high thermal amplitude of cold agglutinin in this case, the systemic activation of histiocytes induced by the development of malignant lymphoma may be responsible for progressive hemolysis and severe pancytopenia.
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PMID:[Anti-Pr2 cold agglutinin disease with polyneuropathy evolving to malignant lymphoma]. 133 64

The aetiology, clinical course and affected organs were studied in 124 patients with acquired systemic amyloidosis and seven patients with organ-limited amyloid deposits. Seventy-five patients had reactive systemic AA amyloidosis, which was associated with rheumatic disease in 55 and with chronic infection in 13 cases. Forty-nine patients had systemic AL amyloidosis. Thirteen of these cases were associated with myelomatosis and 11 with non-malignant immunocyte dyscrasias. In 25 patients with systemic AL disease no immunocyte dyscrasia was identified. Renal involvement dominated the clinical course of both forms of systemic amyloidosis, and renal failure was the most common cause of death. Gastrointestinal disturbance and hepatosplenomegaly were found in both AA and AL disease, although differences were noted in the distribution of amyloid protein within rectal biopsies. Amyloid cardiomyopathy, neuropathy and macroglossia were present in patients with AL amyloidosis only. These clinical patterns were reflected by tissue distribution at necropsy in 67 patients.
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PMID:Ten years' experience of an amyloid clinic--a clinicopathological survey. 399 77

A 75-year-old man developed subacute progressive muscle weakness and painful paresthesia of the left upper and right lower limbs. The patient had no history of diabetes mellitus. On physical examination, there was no evidence of icterus or hepatosplenomegaly. Palmar erythema without rash was noted. Neurologic examination revealed muscle atrophy and weakness in the left upper limb and mild muscle weakness in the right proximal lower limb. Dysesthesia, severe hypesthesia, and hypalgesia were found in the left upper limb. The tendon reflexes were decreased in the left upper limb and absent in the lower limbs. The cranial nerves were preserved on the day of admission, followed by the involvement of the right oculomotor nerve. Serological examination revealed a mixed IgG/IgM cryoglobulinemia and hepatitis C virus (HCV) infection with evidence of HCV virus replication by PCR for HCV RNA. The patient was diagnosed as having a mixed cryoglobulinemic neuropathy associated with HCV infection. Interferon-alpha therapy with 3 million units subcutaneously was initiated three times per week; however, there was no clinical improvement, although cryoglobulins became undetectable and the level of serum HCV RNA decreased remarkably. Intravenous immunoglobulin therapy 20 g per day for 5 days was also ineffective. The patient developed right facial nerve palsy, followed by right abducens nerve palsy. Treatment with prednisolone 40 mg per day improved and stabilized neurologic symptoms. Although interferon-alpha is considered to be a promising therapy for neurologic complications of HCV infection with mixed cryoglobulinemia, the optimal treatment remains unestablished.
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PMID:[Peripheral neuropathy involving cranial nerves in a patient with hepatitis C virus infection and mixed cryoglobulinemia]. 1108 99

POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin disorders) is a rare multisystemic disease associated with plasma cell dyscrasia. A 68-year-old woman with chronic renal insufficiency and arterial hypertension included in her medical history was admitted to the hospital with confusion, somnolence and asthenia. She presented ascites, hepatosplenomegaly, leg oedema, distal dysesthesias, leuconychia and multiple nodular purple red angiomas on the trunk, upper limbs and fingers. Hypothyroidism was revealed in the laboratory investigations and monoclonal IgG peak in immunoelectrophoresis. Electromyography showed both demyelinisating and axonal degenerative neuropathy. The diagnosis of POEMS syndrome was based on the dermatopathological examination of a cutaneous angioma; histology revealed features of glomeruloid angioma, a specific marker of this syndrome.
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PMID:POEMS syndrome revealed by multiple glomeruloid angiomas. 1207 35

Patients with primary myelofibrosis (PMF) or post-polycythemia vera or post-essential thrombocythemia myelofibrosis (post-PV/ET MF) have limited therapeutic options. The farnesyltransferase-inhibitor tipifarnib inhibits in vitro proliferation of myeloid progenitors from such patients. In the current phase II clinical trial, single-agent oral tipifarnib (300 mg twice daily x 21 of 28 days) was given to 34 symptomatic patients with either PMF (n=28) or post-PV/ET MF (n=6). Median time to discontinuation of protocol therapy was 4.6 months; reasons for early termination (n=19; 56%) included disease progression (21%) and adverse drug effects (18%). Toxicities (>/=grade 3) included myelosuppression (n=16), neuropathy (n=2), fatigue (n=1), rash (n=1) and hyponatremia (n=1). Response rate was 33% for hepatosplenomegaly and 38% for transfusion-requiring anemia. No favorable changes occurred in bone marrow fibrosis, angiogenesis or cytogenetic status. Pre- and post-treatment patient sample analysis for in vitro myeloid colony growth revealed substantial reduction in the latter. Clinical response did not correlate with either degree of colony growth, measurable decrease in quantitative JAK2(V617F) levels or tipifarnib IC(50) values (median 11.8 nM) seen in pretreatment samples. The current study indicates both in vitro and in vivo tipifarnib activity in PMF and post-PV/ET MF.
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PMID:A phase II trial of tipifarnib in myelofibrosis: primary, post-polycythemia vera and post-essential thrombocythemia. 1758 8

Adult-onset Still's disease (AOSD) is a rare, systemic inflammatory disorder, characterized by spiking high fever, fever-associated evanescent rash, arthritis, myalgia, serositis and hepatosplenomegaly. White blood cell count, neutrophilic cell count, and serum ferritin level are markedly elevated in the active stage of the disease. Neurological complications of AOSD commonly were cranial nerve palsies, seizures, aseptic meningoencephalitis, peripheral neuropathy and Miller-Fisher syndrome. We report a previously healthy 60-year-old Chinese man who fulfilled the criteria for AOSD and had a combination of focal and peripheral neurological symptoms. Magnetic resonance angiography (MRA) and transcranial Doppler ultrasonography (TCD) showed narrowness of cerebral blood vessel. Peripheral neuropathy was confirmed by electromyography and sural nerve biopsy. His generalized neuropathy and other symptoms were rapidly improved by receiving glucocorticoid therapy. We do a literature review about neurological manifestations observed in AOSD patients.
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PMID:Encephalic large arteries narrowness and peripheral neuropathy in a patient with adult-onset Still's disease. 1849 68

Gaucher disease is a lysosomal storage disorder in which glucocerebroside accumulates within the macrophages in any part of the body. Varying degrees of skeletal involvement may occur besides anemia, coagulation abnormalities and hepatosplenomegaly. Most of the factors influencing the quality of life in a patient with Gaucher disease are related to bone involvement. Gaucher cell deposits may extrude through cortical erosions and cause soft tissue masses around bones which are involved by the disease. We present a 38-year-old female patient with Gaucher disease who had a large intrapelvic mass originating from left iliac bone causing femoral compression neuropathy. The classification of disease is based on neurological involvement and if symptoms exist whether the symptoms are acute or subacute. The neurological impairment caused by compression by a tumor should be distinguished from the ones reported in neurogenic forms of the disease.
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PMID:Intrapelvic mass causing femoral compression neuropathy in a patient with Gaucher disease: a case report. 1995 75

POEMS syndrome is defined by the presence of a peripheral neuropathy (P), a monoclonal plasma cell disorder (M), and other paraneoplastic features, the most common of which include organomegaly (O), endocrinopathy (E), skin changes (S). Not all features of the disease are required to make the diagnosis. We report a case of POEMS syndrome in a 50-year-old female who presented with weakness, abdominal swelling and history of red cell transfusions. Because of the hepatosplenomegaly (Schuffner VII) we diagnosed her as chronic myelocytic leukemia (CML) or myelofibrosis. Her peripheral blood smear did not show granulopoiesis maturation from myeloblast nor leukoerytroblastic feature which was characteristic of CML and myelofibrosis. We found also anemia, peripheral motoric neuropathy and hyperpigmentation at her legs. The protein electrophoresis showed monoclonal gammopathy on b2 globulin. Bone marrow examination showed normal plasma cells. There was no lytic or sclerotic lesion on Schedel and tibia x-ray. The echocardiography showed pulmonary hypertension, pulmonary regurgitation, right and left ventricle hypertrophy with normal ejection fraction (50%). She was treated with melphalan 10 mg/m2 (day 1-4) and prednisone 60 mg/m2 (day 1-4) every 6 weeks with packed red cells transfusion. After 3 cycles the monoclonal protein was reduced from 35.5% to 26.1% (normal 2-5%) without changes in her spleen size. Until then she continued on melphalan and prednisone treatment. Although POEMS syndrome is a rare disease, it should be considered in patient with hepatosplenomegaly, especially if accompanied by peripheral neuropathy.
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PMID:POEMS syndrome: a rare case of monoclonal plasmaproliferative disorder. 2051 35

Glomeruloid hemangioma is characterized by coiled capillary vessels contained within enlarged vascular spaces displaying an architecture that resembles renal glomeruli. The condition is strongly associated with POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes). The present paper reports on two cases of glomeruloid hemangiomas associated with POEMS syndrome, and includes a review of the literature. Case one refers to a 63-year old female patient admitted to hospital with ascites, hepatosplenomegaly, walking difficulties and cutaneous hemangiomas. Histopathology revealed a diagnosis of glomeruloid hemangioma and served to guide the clinical work-up, which revealed sensorimotor polyneuropathy, a plasmacytoma in the L4 vertebra with tumor cells positive for kappa chain, and diabetes mellitus. These findings permitted a diagnosis of POEMS syndrome to be reached. The second case consisted of a 39-year old woman admitted to hospital with edema, ascites, pleural effusion, glomeruloid hemangiomas and lymphadenopathy (Castleman's disease). Additional findings included monoclonal IgG-lambda paraproteinemia, blastic lesions in the right iliac bone and L4 vertebra, and demyelinating sensorimotor neuropathy affecting all four limbs. The final diagnosis in this case was POEMS syndrome associated with Castleman's disease.
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PMID:Glomeruloid hemangioma in POEMS syndrome: a report on two cases and a review of the literature. 2228 6

Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but usually presents in an accelerated phase. We present a case of a 2 years old boy with high grade fever, bilateral cervical lymphadenopathy, hepatosplenomegaly, abdominal distention of 28 days duration. He was diagnosed with Chediak-Higashi syndrome in accelerated phase on the basis of clinical presentation, morphological findings on peripheral blood film and bone marrow aspirate.
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PMID:Chediak-Higashi syndrome presenting in accelerated phase. 2286 26


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