Bardet-Biedl Syndrome: a Case Report of a Woman Suffering From Renal Failure

Bardet Biedl syndrome is a rare hereditary disorder associated with central obesity, mental retardation, polydactyly, retinal dystrophy, retinitis pigmentosa, hypogenitlism, hypogonadism, renal failure. Renal failure is a major cause of mortality in these patients. This report highlights the clinical importance of considering a Bardet Biedl syndrome diagnosis in adults with retinal dystrophy, polydactyly and renal failure. Case Report: we present the case of a 32 yr old woman presented to our emergency room with uremic symptoms and metabolic acidosis. Bardet Biedl syndrome, a rare often forgotten or not been diagnosed disorder, should be promptly identified by pediatricians and timely be referred to the ophtalmologist, endocrinologist, and nephrologist. Conflict of interest: non declared