Bardet – Biedl Syndrome In The Child. A Study About 11 Cases

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Published Jan 12, 2011
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Vol. 89 No. 1 (2011): Issue Jan 2011

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hajer Aloulou
Hela Cheikhrouhou
Neila Belguith
Salma Ben Ameur
Lamia Ben Mansour
Imen Chabchoub
Thouraya Kammoun
Mongia Hachicha

Abstract

Background: The syndrome of Bardet-Biedl is definite clinically by the association of obesity, polydactyly, pigmentary retinopathy, hypogonadism and backwardness.
Aim: To study the epidemiologic, clinical, biological, genetic, therapeutic and evolutionary characteristic of our patients.
Methods: 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).
Results: 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.
Conclusion: 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.

Keywords:

Syndrome of Bardet, obesity, pigmentary retinopathy, hypogonadism, polydactyly

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