Bardet Biedl Syndrome with Typical Retinitis Pigmentosa and Hypergonadotrophic Hypogonadism

Bardet Biedl syndrome (BBS) is a rare autosomal recessive disease, characterized by clinical and genetic heterogeneity. Many genes are involved. BBS seems to be different from Lawrence Moon BBS, although they share some clinical symptoms. The main clinical signs are obesity, pigmentary retinopathy, kidney malformations, and hypogenitalism. Our aim is to report a case with typical retinis pigmentosa, hypergonadotrophic hypogonadism and cerebellum cyst. Case report. A man aged 18 was referred for obesity and blindness. His family history was marked by obesity and diabetes mellitus type II. His medical history began very soon, as he was born with polydactyly, then he became obese and had difficulty to learn and to see. His blindness was progressive, and his puberty was delayed. Clinical and biological exams showed: severe android obesity (BMI = 40kg/m2, waist circumference = 130cm), pigmentary retinopathy, small testes with high FSH = 17 mU/mL (1-8), and normal LH = 6.13 mU/mL (0.6-12)], empty sellae, cerebellum cyst, renal malformations, and signs of chronic infections. He did not have any spasticity or ataxia. Genetic study was not done. Conclusion. In this case, all features argued for typical BBS, except for testicular insufficiency which is classically described as hypogonadotrophic. Infections should be treated vigorously to avoid renal insufficiency.