La Revue de médecine interne
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Chronic periaortitis (CP) is a rare disease characterised by the presence of a fibro-inflammatory tissue typically enveloping the abdominal aorta, the iliac arteries and, in some cases, the nearby structures, such as the ureters and the inferior vena cava. Imaging plays a key role in the diagnosis and follow-up: computed tomography and magnetic resonance imaging scans are used to define the extension of the pathological tissue, whereas fluorodeoxyglucose positron emission tomography is the gold standard to establish the degree of its metabolic activity. CP must be distinguished from secondary forms of periaortic infiltration, which include malignant, infectious, and drug-related aetiologies. This review focuses on the clinical aspects of CP and the differential diagnosis with secondary cases, and aims to provide the clinician with a guide through this challenging clinical approach.
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Gaucher disease is an autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase which leads to an accumulation of glucosylceramide in the macrophages. Splenomegaly, hepatomegaly, cytopenias (anemia, thrombocytopenia) and bone disorders are the main symptoms. The diagnosis is often delayed, leading to unnecessary investigations and treatments, and delaying the specific treatment. The primary objective of our study was to establish, in patients who had a diagnostic delay of more than one year, the reported misdiagnoses before the final diagnosis. The secondary objectives were to investigate the risk factors associated with error and delayed diagnosis. ⋯ There is a risk of diagnostic error related to phenotypic heterogeneity and lack of specificity of Gaucher disease symptoms. This study helps to better identify the misdiagnoses associated with Gaucher disease.