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)

Three patients with "adult" Gaucher's disease with severe pulmonary involvement are described. The clinical course of these patients was characterized by hepatosplenomegaly in infancy, followed by the juvenile onset of dyspnea culminating in pulmonary failure and death. Pathologic examination of the lungs in these patients revealed not only massive infiltration of alveolar walls by Gaucher's cells but also clumps of these cells filling alveolar spaces and obliterating functional air exchanging tissue. The lack of neurologic involvement in these cases delineates them from the "juvenile" forms of Gaucher's disease whereas the malignant course and pulmonary involvement were atypical of the "adult" form. The severity of this type of Gaucher's disease makes it a good candidate for prenatal enzymatic diagnosis.
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PMID:Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. 90 Jan 50

A 29-year-old man presented with acute onset of high fever, chest pain and dyspnea. Chest X-ray film showed diffuse interstitial shadows, a cavitary lesion in the left upper lung field and cardiomegaly, but no lymphadenopathy. Abdominal CT scan showed hepatosplenomegaly and multiple small low density areas in the liver and spleen. Electrocardiogram demonstrated multifocal ventricular premature beats and ventricular tachycardia. Cardiac catheterization revealed left ventricular aneurysms. Sarcoidosis was confirmed by lung and liver biopsy. Drug therapy of prednisolone and mexiletine resulted in clinical improvement of symptoms, signs and chest X-ray film, but platelet count decreased gradually. It is suggested that an immune mechanism of sarcoidosis may have been the cause of this thrombocytopenia.
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PMID:[A case of cardiac sarcoidosis associated with various clinical symptoms and thrombocytopenia]. 128 37

The primary complex like Ghon was observed in a child's clinical roentgenographic study. C.S., white, male, 6 years old, was born in Curitiba (PR), Brazil and living in Guaratingueta (SP), Brazil, developed "common cold", bimodal diary fever, chills, shake and sweats. Dyspnea, cough with general lymphadenopathy. Foot and right shoulder arthralgias. Six months ago visited a cave, equitation practice, dog and cat contacts and no transfusion, frontal sweats, fever (38.4 degrees C). T.A. was 8/6, tachycardia in generalized lymphadenopathy. Cardiopulmonary system was normal, mesogastric tumoral mass, hepatosplenomegaly and no ascites. Bone marrow with eosinophilia; nodule demonstrated presence of P. brasiliensis, hypoalbuminemia; hyperglobulinemia; anemia; leukocytosis with eosinophilia. Immunodiffusion with exoantigen 43 kd of P. brasiliensis was 1/32. Primary complex like Ghon was observed in interstitial pneumonia followed by mediastinal and mesogastric mass (35 to 40 days). Clavicular osteolytic lesions (45 to 60 days) appeared during paracoccidioidomycosis therapy. Recovery was observed 2 months after treatment of acute infantile paracoccidioidomycosis.
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PMID:[Pulmonary lymph node in acute juvenile paracoccidioidomycosis (a case report)]. 130 53

A 54-year-old man who had been known to have a high prolymphocyte count for four years was admitted to our hospital because of dyspnea in September, 1990. Physical examination revealed skin eruption, lymphadenopathy and hepatosplenomegaly. Chest X-ray demonstrated bilateral pleural effusions. The leukocyte count was 232,900/microliter with 99% lymphoid cells possessing single nucleoli. The cells expressed the phenotype CD2+, CD3-, CD4+, CD7+, and CD8-. Southern blot analysis of DNA from these cells revealed monoclonal rearrangement of T-cell receptor beta-chain genes. Anti-human T-cell lymphotropic virus type 1 (HTLV-1) antibody and HTLV-1 proviral DNA were not detected. A biopsy specimen from the skin lesions showed infiltration of the leukemic cells which were positive for anti-MT1 antibody. Histological finding of the axillary lymph node was malignant lymphoma, diffuse, medium-sized, T-cell type. Combination chemotherapy resulted in the improvement of skin eruption, lymphadenopathy, hepatosplenomegaly and pleural effusions, although his prolymphocyte count increased to 910,000/microliters. He died of cerebral bleeding in July, 1991. We diagnosed this case as T-cell prolymphocytic leukemia, observed for five years.
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PMID:[A case of T-cell prolymphocytic leukemia]. 143 23

We report a patient with systemic plasmacytosis with polyclonal hyperimmunoglobulinemia who at presentation showed a blood and bone marrow picture suggestive of plasma cell leukemia. A 78-year-old woman was admitted to our hospital because of marked hepatosplenomegaly and generalized lymphadenopathy. She had leukocytosis with 42% plasmacytes, and plasma cells were increased also in her bone marrow (32.6%). She had marked polyclonal hyperimmunoglobulinemia with increased IgG, IgA and IgE. IgM and IgD were normal. She complained of cough and dyspnea. Her general condition was too poor to remove a lymph node for pathological examination. After treatment with daunorubicin, vincristine and prednisolone (DVP), her lymphadenopathy diminished rapidly, the immunoglobulins decreased and the plasma cells in her blood disappeared. She achieved a complete remission and has been in good condition without further treatment for 24 months.
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PMID:[Systemic plasmacytosis with polyclonal hypergammaglobulinemia and numerous plasma cells in the blood]. 157 43

A 19-year-old boy, who complained of fever and fatigue was hospitalized in November 1986. On physical examination, he had a temperature of 37 degrees C, cervical lymphadenopathy and hepatosplenomegaly. Serum transaminase was elevated moderately, while serum alkaline-phosphatase was elevated severely. Extremely elevated antibody titers to the EBV capsid antigen (IgG: 2560x, IgA: 160x), early antigen (IgG: 1280x, IgA: 160x) and nuclear antigen (160x) were noted. PPD and DNCB skin test were negative. Severe mobilization of Kupfer cells and mild proliferation of pseudoductule were seen in liver biopsied specimen. Cervical lymphnode biopsy showed necrotizing lymphadenitis associated with proliferation of histiocyte. In February 1987 his temperature was elevated to 40 degrees C and he had arthralgia and exanthema. Intravenous Acyclovir (500 mg every 8 hours) and Interferon alpha (6 million u/day) were administered together for 1 month. After that he improved for about a week. In March 1987 he had dyspnea. Arterial blood gas analysis in room air showed a PO2 of 51.8 mmHg, a PCO2 of 28.9 mmHg. A chest radiograph showed thickening of bilateral bronchial walls and obscurity of pulmonary vascular shadows. The effects of transfer factor and Interleukin-2 were unremarkable. High antibody titers to EBV, liver dysfunction and hypo-oxygenemia continued. He died of respiratory and heart failure on 24 October 1987. The most interesting finding of autopsied specimens was stenosis of pulmonary artery associated with interstitial pneumonitis. Hemophagocytosis was seen in liver, spleen and bone marrow.
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PMID:[An autopsied case of chronic active Epstein-Barr virus (EBV) infection with various symptom]. 164 35

A guideline for early diagnosis of metabolic disorders affecting central nervous system during neonatal and early infancy was presented. Clinical manifestations associated with inborn errors of metabolism in the neonatal period are poor feeding, vomiting, diarrhea, abnormalities in muscle tonus, dyspnea, convulsion, coma and so on, and these are not specific to each disorder. However, such symptoms or signs as described below have often intimate relation to metabolic disorders: (1) previous children died of undetermined causes during early infancy; (2) complication of sepsis; (3) onset in the early neonatal period; (4) developmental and growth retardation. When newborns and infants have these symptoms or signs, we should start simple screening studies immediately for metabolic disorders, including CBC, hepatic function tests, blood glucose, lactate, pyruvate, ketone bodies, ammonia, blood gas analysis, urinalysis (including non-glucose reducing substance tests and FeCl3 reaction) and so on. As for CBC, we have to make our own effort to find spherocytosis and vacuoles in lymphocytes. Family history, especially the mother's personal history, is indispensable. During physical examinations, we must pay attention to facial appearance, skin color, macroglossia, hair abnormalities, peculiar odor of the urine and hepatosplenomegaly. When abnormality is found in these clinical signs or simple laboratory examinations, we should not hesitate to start dietary treatment even if special examinations for differential diagnosis are on the way.
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PMID:[CNS disorders caused by metabolic disorders]. 201 2

A 52-year-old Japanese man manifested various clinical signs and symptoms such as vomiting, high fever, dyspnea, cough, sweating, palpitation, eosinophilic leukocytosis and hepatosplenomegaly. These histamine-related clinical manifestations showed a dramatic response to steroid therapy. After 10 months of hospitalization, he suddenly succumbed to candidal septicemia at the end of the third cycle of steroid therapy. Autopsy revealed neoplastic proliferation of immature basophils in various internal organs without involvement of the skin. The neoplastic cells, positive immunohistochemically for leukocyte common antigen, possessed lobulated nuclei and weakly metachromatic cytoplasmic granules, predominantly of the basophil type, which exhibited weak naphthol ASD-chloroacetate esterase activity. Mast cell-type granules were also observed ultrastructurally. The neoplastic infiltration was associated with fibrosis in the liver, spleen and bone marrow and with extramedullary hematopoiesis in the liver, spleen, lymph nodes and perihypophyseal tissue. The bone marrow showed uneven and multifocal involvement. Despite the lack of leukemic manifestations and the results of chromosomal analysis, the most suitable diagnosis was aleukemic basophilic leukemia within the category of chronic myeloproliferative disorder. Kinship of this neoplasia to systemic mastocytosis is discussed.
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PMID:An unusual form of chronic myeloproliferative disorder. Aleukemic basophilic leukemia. 203 58

A 56-year-old man had dyspnea, weight loss, hemoptysis, and a generalized bleeding diathesis. Physical examination disclosed hepatosplenomegaly, congestive heart failure, and multiple sites of bleeding. Severe anemia, thrombocytopenia, rouleaux formation, and a leukocytosis with circulating immature plasma cells were observed, along with azotemia, hyperuricemia, and marked elevation of total proteins with a monoclonal IgG kappa spike. The finding of increased serum viscosity confirmed the clinical impression of the hyperviscosity syndrome. Emergency plasma exchange produced marked improvement in the clinical manifestations of hyperviscosity syndrome. Systemic chemotherapy resulted in a partial remission of the disease, but the patient ultimately died of complications of treatment. In this review, we discuss the diagnosis and management of the hyperviscosity syndrome.
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PMID:Plasma cell leukemia and hyperviscosity syndrome. 219 91

One hundred and twenty-five cases of biopsy proven sarcoidosis have been found during a prospective study since 1972 in Calcutta, Eastern India. The presentation, clinical course and radiological features are considerably different from those seen in the West. Elderly males over 40 years are more prone. Low grade fever, cough, dyspnoea, arthralgia are common symptoms while hepatosplenomegaly, hypercalcaemia, hypercalciuria and hyperglobulinaemia are frequent signs. Nearly 60% are MT negative (up to 100 TU). Serum angiotensin converting enzyme and high lymphocyte count in bronchoalveolar lavage fluid are usual findings in active disease. Chest X-ray usually shows mottled opacities or fibrosis in 60% cases. Clinico-radiological dissociation (i.e. remarkable dissociation between the alarming-looking chest X-ray and scanty physical signs and symptoms in chest) was a very remarkable feature in this series. Treatment with oral steroid or steroid aerosol with oxyphenbutazone and chloroquine give equally good results initially. However, most cases tend to relapse inspite of adequate initial treatment. The pattern of the disease is similar almost all over India with minor regional differences like more erythema nodosum and eye involvement in Chandigarh in the extreme north (which could also have been due to case selection). The pattern from Northern India (Delhi) and Western India is nearly similar to our figures.
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PMID:Sarcoidosis in India: a review of 125 biopsy-proven cases from eastern India. 234 18


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