Imaging of a rare disorder: macrodystrophia lipomatosa

SA Journal of Radiology

Field Value
Title Imaging of a rare disorder: macrodystrophia lipomatosa
Creator Suleman, Farhana Ebrahim Kisansa, Margaret
Subject raiology,paediatric surgery,plastic surgery macrodystrophia lipomatosa,macrodactyly,focal gigantism,mri
Description 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.
Publisher AOSIS
Date 2010-06-07
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — case series
Format application/pdf
Identifier 10.4102/sajr.v14i2.425
Source South African Journal of Radiology; Vol 14, No 2 (2010); 39 2078-6778 1027-202X
Language eng
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Coverage south africa case series case series
Rights Copyright (c) 2010 Farhana Ebrahim Suleman, Margaret Kisansa