Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014118 (endocarditis)
 15,629 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This three-part article examines the histologic and morphologic basis for stenotic and purely regurgitant tricuspid valves. In Part I, conditions producing tricuspid valve stenosis are reviewed. In over 90% of stenotic tricuspid valves, the etiology is rheumatic disease. In isolated tricuspid stenosis, the etiology is either carcinoid or congenital. Rare causes of tricuspid stenosis include active infective endocarditis, metabolic or enzymatic abnormalities (Fabry's, Whipple's disease), and giant blood cysts.
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PMID:Pathology of tricuspid valve stenosis and pure tricuspid regurgitation--Part I. 772 Feb 97

Although it is known that Fabry disease should be included in the differential diagnosis of young stroke and fever of unknown origin, it has not been reported in the literature of stroke with fever as the presentation of Fabry disease. This is relevant because stroke with fever may misguide the differential diagnosis. Here we present a young stroke patient with fever. DWI of brain MRI revealed acute multiple infarctions. Due to the fever, infectious and inflammatory origins such as infective endocarditis and autoimmune diseases were examined first. However, we could not identify the source of fever after fever workup. The fever did not respond to one week of acetaminophen and antibiotics, but responded promptly to steroid. Our patient is also a case of de novo mutation rather than being inherited that further complicates the diagnosis of this patient. Because of the rare combined presentation of stroke with fever, Fabry disease should also be considered in stroke with fever, even without family history of Fabry disease.
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PMID:A Case of Fabry Disease Presenting with Young Stroke and Fever. 3186 7