[Bardet - Biedl syndrome in the child. A study of 11 cases].
BACKGROUND
The syndrome of Bardet-Biedl is definite clinically by the association of obesity, polydactyly, pigmentary retinopathy, hypogonadism and backwardness.


OBJECTIVE
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.


CONCLUSIONS
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.
Service de Pediatrie. CHU Hedi - Chaker Sfax.
Hajer
H
Aloulou
Hela
H
Cheikhrouhou
Neila
N
Belguith
Salma
S
Ben Ameur
Lamia
L
Ben Mansour
Imen
I
Chabchoub
Thouraya
T
Kammoun
Mongia
M
Hachicha
D000293:Adolescent; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics; D012189:Retrospective Studies
D003598:Cytoskeletal Proteins; D011506:Proteins; C478138:TTC8 protein, human