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)

Gaucher's disease, a familial inborn error of metabolism associated with hepatosplenomegaly and hypersplenism, was first described by Earnest Gaucher in 1882. By 1959, Hsia found published reports on more than 300 cases. Most reports mentioned the bleeding tendencies of patients with Gaucher's, but show that major hemorrhagic complications are rare. We report a case of hemorrhagic pericarditis with cardiac tamponade in a patient with Type I Gaucher's disease.
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PMID:Cardiac tamponade in a patient with Gaucher's disease. 139 88

Constrictive chronic pericarditis in a 13-year-old male patient was previously treated as chronic hepatitis for seven years, with the use of furosemide and spironolactone. Investigation for diagnosis included chest radiography, echo-doppler-cardiography, thoracocentesis with pleural biopsy and computerized tomography of chest, and showed ventricular diastolic restriction due to constrictive chronic pericarditis. After eight weeks of tuberculostatic treatment, the patient was submitted to hemodynamic study that confirmed the diagnosis and a pericardiectomy was performed. Long-term follow-up showed regression of diastolic restriction and decrease of hepatosplenomegaly and of jugular stasis. Tuberculostatic drugs were given for 12 months postoperatively, associated to corticosteroids.
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PMID:[Constrictive pericarditis as differential diagnosis of hepatic disease]. 182 20

We reported a case of adult Still's disease accompanied by pericarditis, pleuritis and extensive pneumonitis with respiratory failure. A 59-year-old woman was admitted to our hospital because of high grade fever and sore throat. She had a spiking fever between 38 degrees C and 40 degrees C. Surface lymph nodes were palpable in the neck and inguinal lesions and hepatosplenomegaly was recognized. Laboratory data showed a marked increase in peripheral leukocytes, erythrocyte sedimentation rate, liver dysfunction and anemia. Serologic tests were negative for various autoantibodies and rheumatoid factor. She received various antibiotics, but there was no improvement. Later, a rheumatoid rash which suggested adult Still's disease developed. The diagnosis of adult Still's disease was made by skin biopsy and clinical course. Although pericarditis, pleuritis and extensive pneumonitis were accompanied with severe respiratory failure, her symptoms improved with steroid pulse-therapy. A transbronchial lung biopsy revealed moderate fibrosis and cell infiltration in alveoli.
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PMID:[A case of adult Still's disease with severe pulmonary complications]. 258 6

A case of a patient with clinical picture of hepatosplenomegaly, portal hypertension, dilatation of hepatic veins and inferior vena cava, without venous thrombosis or other causes of obstruction of right-sided heart, is described. This picture is compatible with the Budd-Chiari syndrome. Echocardiography has shown a hypertrophic cardiomyopathy causing relevant dilatation of both atria and it has allowed us to exclude the presence of a constrictive pericarditis. The hypertrophic cardiomyopathy is first considered as a cardiac cause of cirrhosis mimicking the Budd-Chiari syndrome.
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PMID:[Hypertrophic cardiomyopathy mimicking clinical picture of Budd-Chiari syndrome]. 321 58

Juvenile chronic arthritis is the most common connective tissue disease in children. It is of great social and clinical interest for its chronicity, for the often unpredictable response to pharmacological treatment; for the spontaneous evolution toward infirmity and often blindness. The English classification of the disease is here been adopted. There are 3 different types of onset: systemic, poliarticular and pauciarticular. Large joints such as the knees, wrists and ankles are involved more often than small joints. Also the cervical spine is frequently affected. Systemic disease is accompanied by high spiking fever, rash, lynphoadenopathy, pericarditis and hepatosplenomegaly. Chronic uveitis is a feature of JCA, more frequently observed in pauciarticular than in the other types of onset, and it is almost always associated with antinuclear antibody seropositivity. Rheumatoid factor (RF) and subcutaneous nodules are unusual in JCA. Diagnosis is often not easy and it is essentially clinical. The diagnostic criteria adopted have been proposed by ARA in 1977. In the majority of children treatment with ASA is successful. Sometimes other types of more toxic drugs such as gold salts or penicillamine are needed. Their use is best confined to reference centers. Orthopedical and physiotherapic treatments are complementary to the pharmacological one. Multidisciplinary centers are therefore necessary for the total management of these children also to stress the importance of furthering physical and psychological growth.
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PMID:[Juvenile chronic arthritis]. 409 7

The clinical manifestations of pediatric systemic lupus erythematosus (SLE) are similar to those seen in adults with SLE with increased frequency of the following features: hepatosplenomegaly, chorea, nephritis, and avascular necrosis. Similarly, pediatric SLE patients are now showing the same improvement in survival as adult SLE patients, and it is no longer felt that the course of childhood-onset SLE is more severe than that seen in adult-onset SLE. Children of mothers with SLE can develop both transient and persistent features of SLE in the neonatal period. Transient features include photosensitive discoid rash, cytopenia, hepatosplenomegaly, myocarditis, and pericarditis; the permanent features include congenital complete heart block, endomyocardial fibroelastosis, and other structural cardiac defects.
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PMID:Pediatric systemic lupus erythematosus and neonatal lupus. 815 96

Five patients with proven intra-abdominal tuberculosis were examined with computed tomography (CT) over a period of one year. This revealed hepatosplenomegaly in all five cases. Macroscopic nodules were noted in the liver and spleen in three cases. All three cases showed more severe involvement of the spleen over the liver. Other features were enlarged (para-aortic, para-caval, peripancreatic and mesenteric) nodes, ascites, stellate mesentery and thickened bowel wall. Incidental extra-abdominal findings included intrathoracic nodules, pleural effusion, pericardial effusion with constrictive pericarditis, bony osteomyelitis and psoas abscess. Follow-up CT was performed on four of the five cases and showed significant resolution of the above findings. In addition, one case showed calcification within a healing splenic nodule. The presence of macroscopic nodules detected on CT, especially in the spleen, is an unusual finding in prior reports. This paper attempts to account for its high local incidence and discusses the significance of other findings in the diagnosis of abdominal tuberculosis.
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PMID:Computed tomographic findings of abdominal tuberculosis--report of five cases. 826 65

Abdominal distension has been described as the most common presenting symptom in children with constrictive pericarditis. This report describes a 13-year-old boy who had abdominal distension with massive ascite and hepatosplenomegaly as an initial presentation. The physical signs of jugular vein engorgement and gallop rhythm as well as the pericardial calcification on the chest roentgenogram lead to the diagnosis of constrictive pericarditis. After ultrafast computed tomography and cardiac catheterization confirmation, the patient received a pericardiectomy with excellent relief of symptoms. Pathology of the pericardium reveals fibrocalcified change, but no acid fast stained bacillus nor granulomatous lesion was observed. The incidence of constrictive pericarditis with evident pericardial calcification in children is extremely low. The diagnostic value of the chest roentgenogram and physical findings for the constrictive pericarditis are addressed.
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PMID:Constrictive pericarditis presenting as massive ascites in children: report of one case. 1214 69

Adult onset Still's disease (AOSD) is an uncommon acute systemic inflammatory disease of unknown origin. The clinical features include high spiking fever, arthralgia or arthritis, transient maculopapular rash, lymphadenopathy, hepatosplenomegaly, and serositis. Pericarditis is the most common cardiac manifestation of AOSD and occurs in approximately 30% of cases. A simultaneous occurrence of rapidly progressive bi-valvular regurgitation associated with AOSD has not been previously described. We report a case of a 55-year old woman who underwent mitral valve replacement and Bentall's operation due to acute severe mitral and aortic regurgitation associated with AOSD.
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PMID:Adult onset Still's disease as a cause of acute severe mitral and aortic regurgitation. 1629 89

Reactive hemophagocytic syndrome (HS) occurs mainly in the setting of serious infections and lymphomas. HS can occur in the course of 2 active systemic diseases, without simultaneous infection: adult Still disease and systemic lupus erythematosus (SLE). Observations of specific lupus-associated HS are rare, and the long-term outcome of these patients with active SLE is unknown. We retrospectively studied 15 episodes of SLE-associated HS in 12 patients (10 women, 2 men) and noted the long-term outcome. HS occurred at a mean age of 25 years. All patients were febrile with >or=2 cytopenias, and bone marrow aspiration indicated hemophagocytosis. HS revealed SLE in 9 patients and recurred in 3. The main features of SLE-associated HS were a low frequency of hepatosplenomegaly, a high frequency of heart involvement (5 pericarditis, 4 myocarditis requiring transfer to intensive care unit), and a low C-reactive protein level (mean, 15 mg/L). Cutaneous-mucous symptoms of SLE, arthritis, and nephritis were present respectively in 8 (53%), 6 (40%), and 4 (27%) episodes, but symptoms of SLE were absent in 4 episodes at admission. All patients had anti-nuclear antibodies when the HS occurred. Anti-double-stranded DNA antibodies were present in 12 episodes. Treatment was steroids in 14 cases but cyclophosphamide was the only treatment able to control HS in 2 cases. All the cases of SLE-associated HS were controlled by the immunosuppressive regimen. Intravenous immunoglobulins seemed poorly effective. No infectious agent was found. Clinical presentations of the 23 patients with SLE-associated HS described in the literature were reviewed and were similar to those of the current series. The mean follow-up was 88 months (range, 7-240 mo). One patient died at 15 months (sepsis). Among the 5 patients with a follow-up >8 years, 4 always had active disease. During the follow-up of SLE, immunosuppressive drugs were added in 8 patients (cyclophosphamide in 7, azathioprine in 3, mycophenolate mofetil in 2) with significant adverse drug reactions. In the long-term, SLE-associated HS seems to define a severe SLE form with frequent flares, possible HS recurrences, and the need for prolonged immunosuppression.
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PMID:Characteristics and long-term outcome of 15 episodes of systemic lupus erythematosus-associated hemophagocytic syndrome. 1672 Dec 59


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