Case Report

Imaging of a rare disorder: macrodystrophia lipomatosa

Farhana Ebrahim Suleman, Margaret Kisansa
South African Journal of Radiology | Vol 14, No 2 | a425 | DOI: | © 2010 Farhana Ebrahim Suleman, Margaret Kisansa | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2010 | Published: 07 June 2010

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Farhana Ebrahim Suleman, university of limpopo medunsa campus, South Africa
Margaret Kisansa,

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Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localized macrodactyly and a proliferation of mesenchymal elements. There is in particular a marked increase in fibroadipose tissue(1).

We describe two cases presenting to our department in a six month period, with a history of disproportionately large limbs since birth. While our first case demonstrated all the typical features of MDL, our second case failed to demonstrate osseous gigantism although the other features of MDL were present. An extensive search of the literature failed to yield any cases described without osseus gigantism but at the same time the other radiological features failed to fit in with any other related syndromes and the most appropriate diagnosis appears to be MDL. Thus we concluded that this may be a case of a rare, atypical MDL that was arrested or frustrated and therefore failed to demonstrate full expression of the syndrome.


macrodystrophia lipomatosa,macrodactyly,focal gigantism,mri


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