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Growing Old Too Fast: A Rare Case of Werner Syndrome

机译:增长太快:罕见的Werner综合征

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摘要

Werner syndrome (WS) is rare adult-onset progeria characterized by premature aging and early death. Patients develop normally until adolescence and usually present in early adulthood. Our case highlights a common presentation of this uncommon disease, wherein a 29-year-old non-obese male with no known risk factors developed uncontrolled diabetes, hypertriglyceridemia, and rapidly progressive atherosclerotic vascular disease. Careful observation with attention to the presence of characteristic physical features and subsequent genetic testing helped diagnose the patient with this uncommon progeroid syndrome. Our case adds to the literature about this rare disease especially in patients of middle-eastern descent and also highlights the importance of having a high index of suspicion for WS when the initial clinical presentation is atypical.
机译:Werner综合征(WS)是一种罕见的成年早衰,其特征是过早衰老和早期死亡。患者正常发育直至青春期,通常在成年早期出现。我们的病例突出显示了这种罕见疾病的常见表现,其中一名29岁,没有已知危险因素的非肥胖男性发展为不受控制的糖尿病,高甘油三酯血症和快速进展的动脉粥样硬化性血管疾病。仔细观察并注意其特征性生理特征的存在以及随后的基因检测有助于诊断出患有这种罕见的早衰综合症的患者。我们的病例增加了有关这种罕见疾病的文献,特别是在中东血统的患者中,并且还强调了当初始临床表现不典型时,对WS高度怀疑的重要性。

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