Barraquer-Simons Syndrome

Abstract

Background: Barraquer-Simons syndrome (BSS) is a rare acquired lipodystrophy characterized by gradually symmetric subcutaneous fat loss in a craniocaudal distribution, associated with hypocomplementemia, diabetes and hypertriglyceridemia. Few investigators have studied body fat distribution with cross-sectional imaging techniques.

Methods: We present 2 cases of BSS with emphasis on phenotypic analysis through cross-sectional imaging.

Results: For the first time, we demonstrate bone marrow involvement and deep cervical and axillary fat sparing of Barraquer-Simons using magnetic resonance imaging.

Conclusion: Phenotypic analysis in lipodystrophies such as Barraquer-Simons is an essential guide for future experiments. Therefore, careful analysis of cross-sectional imaging should be conducted in future studies as areas of involvement or fat sparing may be overlooked. The major contributions of our work are that this is the first time that deep cervical or nuchal and axillary fat sparing and bone marrow involvement has been documented in BSS.

Keywords: Barraquer-Simons; Endocrinology; Hypocomplementemia; Lipodystrophies; Magnetic resonance imaging.