Tongue necrosis by giant cell arteritis and fatal pacemaker embolism.
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Biomedical subjects
Publications and source records attributed to D C Knockaert.
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The recent discovery of the mutated gene responsible for Familial Mediterranean Fever (FMF) is supposed to facilitate its diagnosis which up till now is a clinical one because there are no specific laboratory tests. The sensitivity of genetic testing is limited because these tests search only for known mutations. In this case report we describe a patient with periodic abdominal pain in whom the diagnosis of FMF was wrongly discarded because of lack of a durable effect of colchicine and negative genetic testing. Diffuse peritoneal inflammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positron-emission tomography) performed during a typical crisis. We discuss the possible diagnostic pitfalls and conclude that a crisis-PET might upgrade the level of diagnostic certainty in equivocal cases.
Castleman's disease (CD) is a rare atypical lymphoproliferative disorder with frequent, yet less well known renal involvement. We describe the case of a 58-year-old woman with localised abdominal plasma-cell type CD complicated by nephrotic syndrome due to renal amyloidosis. 18Fluorodeoxyglucose (FDG) positron emission tomography (PET) confirmed the unicentric nature. Resection of the mass resulted in regression of the signs of inflammation, a negative FDG-PET and complete remission of the nephrotic syndrome. A review of the literature of renal involvement (incidence, clinical and pathological manifestations, treatment and prognosis) in CD is provided.