[Bardet - Biedl syndrome in the child. A study of 11 cases]

The syndrome of Bardet-Biedl is definite clinically by the association of obesity, polydactyly, pigmentary retinopathy, hypogonadism and backwardness.

To study the epidemiologic, clinical, biological, genetic, therapeutic and evolutionary characteristic of our patients.

We carried out a retrospective study concerning 11 hospitalized children and/or follow-ups with the service of pediatry of the CHU Hédi Chaker of Sfax for syndrome of Bardet-Biedl during a period of 21 years (1987-2007).

The obesity was constant among all patients, polydactyly was found in 9 cases, the fall of night vision in 7 cases. The hypogonadism was constant among all our boys. The bottom of eye was practised among 9 patients, it showed a pigmentary aspect of retinopathy among 8 patients. The electroretinogram was done in 10 patients, it showed a pigmentary retinopathy in all the cases. The radiological exploration of the urinary tract made it possible to identify morphological anomalies in 3 cases. The genetic study concerned the families of one of our patients and it allowed the identification of a new gene BBS8 at one of the families. Treatment was only symptomatic. After 6 years an average retreat, we noted an aggravation of obesity (9cas) and visual deficit (7cas). Only one patient evolved to the chronic renal insufficiency.

The syndrome of Bardet-Biedl is a hereditary disease characterized by a genetic heterogeneity. The diversity of the systemic attacks defining this syndrome is a source of several handicaps: blindness, backwardness and obesity. The forecast is conditioned by the renal attack of or the interest of an early tracking and genetic council.