Enteric hyperoxaluria and renal failure associated with lymphangiectasia.
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Tc-99m HIG has recently come into prominence as an inflammation seeking radiotracer. The authors describe a novel use of the agent for imaging protein-losing enteropathy. The agent may have certain advantages over Tc-99m HSA, which is currently being used for imaging protein loss.
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An 8 year old girl with recurrent upper gastrointestinal bleeding was found to have localised duodenal lymphangiectasia by fibreoptic endoscopy. She did not show physical signs or laboratory evidence of significant enteric protein loss. A low fat diet seemed to prevent further bleeding. Duodenal lymphangiectasia may be associated with gastrointestinal bleeding in children.
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A 51 year old man with Waldenström's macroglobulinaemia presented with a malabsorptive syndrome related to extensive small bowel lymphangiectasia caused by immunoglobulin accumulation. The patient's plasma had strong lupus anticoagulant activity and the IgM lambda paraprotein displayed specificity for the negatively charged phospholipids phosphatidyl serine and phosphatidyl inositol, as well as the neutral phosphatidic acid. Despite treatment for the macroglobulinaemia the patient died and at necropsy was found to have myocardial ischaemia and segmental infarcts in the spleen and kidney. The coexistence of these relatively rare findings suggests a possible association between Waldenström's macroglobulinaemia with gastrointestinal manifestations and paraprotein specificity for phospholipid.
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Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.
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