Bardet-Biedl Syndrome- A Rare Case Presenatation In Marathwada Region Of India

Abstract

Bardet-Biedl syndrome (BBS) is a rare, genetic disorder (autosomal recessive ciliopathy) with involvement of multiple systems and wide spectrum of clinical features. Characteristic features of this disorder are cone-rod dystrophy, postaxial polydactyly, truncal obesity, kidney abnormalities and learning difficulties. It may also be associated with diminished size and decreased function of the testes in males (hypogonadism) and complex genitourinary abnormalities in females. Bardet-Biedl syndrome is inherited mostly as an autosomal recessive trait. It affects males and females equally. This syndrome is usually diagnosed in childhood based upon thorough clinical evaluation and detection of characteristic findings (e.g., visual problems due to retinal dystrophy, obesity, polydactyly). Genetic testing may assist in diagnosing the disorder in selected cases (e.g., individuals with certain BBS1 and BBS10 gene mutations). The treatment of Bardet-Biedl syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the co-ordinated efforts of a team of specialists.We present a case of 28yrs female patient with Bardet-Biedl syndrome who presented in out-patient department with episodes of loose motions, vague abdominal pain,swelling all over body and decreased urine outut. She had history of obesity, diminished vision and polydactyly. On investigations she had anemia of chronic disease, deranged renal fuction tests and retinitis pigmentosa.