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- Title
Sindromul Barraquer-Simons - o entitate rară la graniţa interdisciplinară.
- Authors
Cozma, L.; Mitu, C.; Popescu, B. O.
- Abstract
Lipodystrophies are disorders characterised by loss of adipose tissue, localised or extensive, with different patterns of progression and comorbidities coresponding to the hereditary characteristics involved. The acquired partial lipodystrophy subtype (Barraquer-Simons syndrome) has rarely been reported, w ith only a few hundred cases worldwide. We report the case o f a 32-year-old female reffered to our clinic to further investigate a suspicion of fado-scapulo-humeral muscular dystrophy and/or scleroderma. The clinical presentation is characterised by slowly progressive facio-brachio-thoracal atrophy w ith cranio-caudal pattern of progression that started 8 years ago. The integrity and function of the muscles were preserved, however a marked loss of subcutaneous tissue was noticed, contrasting the pronounced volume of adipose tissue on the abdomen and legs, This typical presentation associated with C3 hypocom plementemia, in the absence o f other abnormal findings, overlaps completely the clinical description o f aquired partial lipodystrophy. Despite being a more benign type of lipodystrophy, a variety of accompanying disorders must be excluded. diabetus mellitus, dyslipidemia, membranoproliferative glomerulonephrytis or, less frequently, autoimmune diseases of the connective tissue. Being a rare disorder, the physical presentation can lead to confusion w ith a diverse range o f pathologies, delaying the diagnosis and potentially leading to extensive use of resources w ith little to no benefit. Furthermore it may cause late recognition of comorbidities, ignoring simple therapeutic solutions w ith major consequences.
- Publication
Romanian Journal of Neurology, 2017, Vol 16, p59
- ISSN
1843-8148
- Publication type
Article