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现代技术解决诊断难题:马德隆病罕见病例

State of diagnostic quandary solved by modern technology: a rare case of Madelung's disease.

作者信息

Kyaw Htoo, Grillo Michael, Lin Aung Naing, Kapp David A

机构信息

Department of Internal Medicine, Brooklyn Hospital Center, Brooklyn, New York, USA.

出版信息

BMJ Case Rep. 2016 Feb 5;2016:bcr2015213842. doi: 10.1136/bcr-2015-213842.

Abstract

Madelung's disease is a neglected metabolic disease characterised by generalised multiple fatty tissue deposits. A 64-year-old Caucasian woman presented with generalised weakness and symptomatic hypoglycaemia with altered mental status. Physical examination showed very distinct physical characteristics with multiple lumps distributed over the upper body. Her neurological symptoms were solved by giving intravenous glucose and optimisation of medical treatment. Even though she had unique characteristics of Madelung's disease, many physicians, on several occasions, failed to recognise her 'hidden diagnosis'. This diagnostic uncertainty was able to be solved by searching the Internet for similar clinical features and images. This case demonstrates characteristics and unique features of a rare disease that can be seen in a female patient even though it is mostly found in males.

摘要

马德隆氏病是一种被忽视的代谢性疾病,其特征为全身性多发性脂肪组织沉积。一名64岁的白种女性出现全身无力和有症状的低血糖,并伴有精神状态改变。体格检查显示出非常明显的体征,上半身有多个肿块。通过静脉注射葡萄糖和优化治疗,她的神经症状得到了解决。尽管她具有马德隆氏病的独特特征,但许多医生多次未能识别出她的“隐匿诊断”。通过在互联网上搜索相似的临床特征和图像,这种诊断的不确定性得以解决。该病例展示了一种罕见疾病的特征和独特表现,这种疾病虽然多见于男性,但在女性患者中也可见到。

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