RT Journal Article
SR Electronic
T1 State of diagnostic quandary solved by modern technology: a rare case of Madelung's disease
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr2015213842
DO 10.1136/bcr-2015-213842
VO 2016
A1 Htoo Kyaw
A1 Michael Grillo
A1 Aung Naing Lin
A1 David A Kapp
YR 2016
UL http://casereports.bmj.com/content/2016/bcr-2015-213842.abstract
AB 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.