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)

We describe an 18-year-old white male who developed lower extremity ischemia requiring amputation. He presented at 14 with pulmonary infiltrates, hepatosplenomegaly, fever, rash, adenopathy, uveitis, and arthralgias; clinical and laboratory findings were consistent with Mycoplasma pneumoniae infection. Despite adequate treatment with antibiotics, he developed chronic arthralgias and fevers, with rash and pericardial effusion. Criteria for the diagnosis of systemic lupus erythematosus were not met; juvenile rheumatoid arthritis was diagnosed presumptively. Over the subsequent 4 years he developed lymphadenopathy with biopsy-proven nonnecrotizing granulomas, chronic leg ulceration with granulomatous histology, and acute-onset impending gangrene of the left foot. A biopsy of the posterior tibial artery demonstrated giant cell arteritis. Although the histologic features were consistent with Takayasu's arteritis, complete aortic arteriography was normal. Examination of the amputated leg showed multifocal segmental giant cell arteritis. Clinicopathologic features suggested, but were not fully consistent with, juvenile systemic granulomatosis. His disease may represent a separate sarcoid-like entity in the broad spectrum of vasculitis.
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PMID:Giant cell vasculitis with extravascular granulomas in an adolescent. 205 10

We report a patient with the syndrome of large granular lymphocytes in whom the initial clinical features were polyarthritis, hepatosplenomegaly and neutropenia. Relative lymphocytosis was also demonstrated at the expense of a subpopulation with morphology and surface markers characteristic of large granular lymphocytes (CD2+, CD8+, CD16+ and HNK-1+). After 6 months of asymptomatic course, without changes in clinical or laboratory data, the patient died from an acute abdomen with mesenteric ischemia of different likely causes as suggested by necropsy data (multivisceral diffuse infiltrate by large granular lymphocytes, systemic vasculitis and Clostridium sepsis). The association between this syndrome and systemic vasculitis is discussed.
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PMID:[Vasculitis associated with proliferation of large granular lymphocytes]. 225 May 16

Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects.
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PMID:Rare association of central pontine myelinolysis with infantile tremor syndrome. 2241 74

Hemophagocytic syndrome combines febrile hepatosplenomegaly, pancytopenia, hypofibrinemia, and hepatic dysfunction. It is characterized by bone marrow and organ infiltration of activated, nonmalignant macrophages that phagocytize blood cells. It is rare among renal transplant recipients. Here, we present the successful management of late-onset cytomegalovirusinduced hemophagocytic lymphohistiocytosis in a kidney transplant recipient after coronary artery bypass graft surgery. In 2012, our patient had end-stage kidney disease due to diabetic nephropathy and underwent related living-donor renal transplant. He was also hypertensive and hyperuricemic and had heart ischemia for which percutaneous coronary intervention for triple vessel disease was performed before transplant. In March 2017, he underwent successful aortic valve replacement and coronary artery bypass graft surgery; however, the patient had persistent thrombocytopenia. Heparin-induced thrombocytopenia was negative. His bone marrow showed hemophagocytosis possibly due to cytomegalovirus. Moreover, antiglycoprotein IIb/IIIA autoantibodies were positive. A positron emission tomography scan was negative for malignancy. He started treatment for cytomegalovirus with modifi cation of his immunosuppressive regimen (pulse steroid). Antiplatelet therapy was held and only resu med if platelet count exceeded 30000/L. Moreover, he received intravenous immunoglobulin and romiplostim treatment with partial response. Throughout treatment, he had stable kidney graft function with improving platelet count. A multi disciplinary approach is needed to treat patients with hemophagocytic syndrome, especially renal transplant recipients. Late-onset cytomegalovirus is an important cause for this syndrome.
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PMID:Successful Management of Late-Onset Cytomegalovirus-Induced Hemophagocytic Lymphohistiocytosis in Kidney Transplant Recipient After Coronary Artery Bypass Graft Surgery. 3077 56