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BMJ Case Reports 2016; doi:10.1136/bcr-2015-213842
  • CASE REPORT

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

  1. David A Kapp
  1. Department of Internal Medicine, Brooklyn Hospital Center, Brooklyn, New York, USA
  1. Correspondence to Dr Htoo Kyaw, htookyaw2007{at}gmail.com
  • Accepted 21 January 2016
  • Published 5 February 2016

Summary

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.

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