DOI: 10.36347/sjmcr.2014.v02i04.005

Pages: 235-238

The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Its presentation with type 1 diabetes mellitus is a rare manifestation. We report a case of Bardet-Biedl syndrome presenting with type1 diabetes mellitus.