The Diagnosis And Treatment Of Bardet-Biedl Syndrome, A Case Report

OBJECTIVE: Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features which are obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. The author described a case of Bardet-Biedl syndrome involving renal failure and Diabetes Mellitus and the effects of the antidiabetic thiazolidinedione (TZD) rosiglitazone in this patient.CASE PRESENTATION AND INTERVENTION: A25-year-old female patient presented to the hospital with hyperglycemia. Polydactyly, retinitis pigmentosa, obesity, renal abnormalities and developmental delay were found. Because she had insulin resistance and hyperglycemia , She was given rosiglitazone p.o. 8mg qd. for 30 weeks, which resulted in significant improvement.CONCLUSION: This is the first known report showing that a TZD described in a BBS patient. Whether this is due to the observed improvements in insulin sensitivity and/or to another action of the TZD class require further exploration.