BARDET-BIEDL SYNDROME - AN ITALIAN MULTIC ENTRIC STUDY

The Bardet-Biedl syndrome (BBS) is a genetic autosomal recessive disor der clinically characterized by obesity, retinitis pigmentosa, polydac tyly, hypogonadism, mental retardation and renal anomalies. The result s of a study on clinical, auxological and endocrino-metabolic aspects, carried out in Italy in various hospitals on 24 cases affected by BBS , in pediatric and adolescent age, are discussed. Obesity was present in 96% of the cases, retinitis pigmentosa in 92%, polydactyly in 75%, hypogonadism in 50%, mental retardation in 87% and renal abnormalities in 45%. Endocrinological investigations showed impaired glucose toler ance in 50% of the cases, hyperinsulinism in 79%, hyperlipaemia in 56% . Thyroid and adrenal hormones and IGF-1 were in the normal range in a lmost all of the patients. It is recommended a multidisciplinary appro ach to these patients for a precocious rehabilitation and an early pre vention of clinical abnormalities responsible for an aggravating progn osis and the quality of life of these children.