Bardet – Biedl Syndrome In The Child. A Study About 11 Cases
Keywords:
Syndrome of Bardet, obesity, pigmentary retinopathy, hypogonadism, polydactylyAbstract
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.
Downloads
References
Rooryck C, Lacombe D. Le syndrome de Bardet-Biedl. Ann Endocrinol, 2008 ; 69: 463-71
Riise Ruth. Intrafamilial variation of the phenotype in Bardet- Biedl syndrome. Br J Ophtalmol 1997; 81: 378-85.
ianello s., bosco p., cavaleri A. et al. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obs Rev 2002 ; 3 : 123-35.
Boulenger-Vazel.A, Leroy J.P, Sassolas B et al. Lymphangiome avec hyperplasie épithéliale associé à un syndrome de Bardet- Biedl. Ann Dermatol Venereol 2004;131:267-70.
Dolffus H, Verloes A, Bonneau D et al. Le point sur le syndrome de Bardet-biedl. J Fr Ophtalmol 2005 ; 28 :106-12.
Woods Mo., Young Tl., Parfrey PS. et al. Genetic heterogeneity of Bardet-Biedl syndrome in a distrinct Canadian population: evidence for a fifth locus. Genomics 1999 ; 55 : 2-9.
Jeddi A., Mrabet A., Rahmoly Y et al. Le syndrome de Laurence Moon Bardet Biedl : A propos de 2 cas familiaux. Tunis Med 1997; 75: 874-9
Stoetzel C, Muller J, Laurier V. et al. Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome. Am J Hum Genet 2007; 80: 1-11
Gerth C, Zawadzki R-J, Werner J S et al. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res 2008; 48:392-399
Beales PL. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr Opin Genet Develop 2005; 15: 1-9.
Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 2004; 13: 65-71
Mykytyn K., Nishimura Dy., Searby CC. et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet 2003; 72 : 429-37.
Efrat F, Olga A, Ruth ZB. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Inter J Bioch Cel Biol; 2007; 39:1055-62
Delrue M-A, Michaud JL. Fat chance: genetic syndromes with obesity. Clin Genet 2004 ; 66 : 83-93.
Ingster-Moati I., Rigaudiere F., Choltus-De Petigny MC. et al. Exploration fonctionnelle visuelle dans le syndrome de Bardet- Biedl. A propos de 3 cas. J Fr Ophtalmol 2000 ; 23 : 802-808.
Wang Dy., Chan Wm., Tam POS. et al. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta 2005; 351: 5-16.
Hansen R M , Eklund S E, Benador I Y et al Retinal degeneration in children: Dark adapted visual threshold and arteriolar diameter. Vision Res 2008; 48: 325-331
David A., Bitoun P., Lacombe D. et al. Hydrometrocolops and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet 1999 ; 36 : 599-603. 1
Stoler Jm., Herrin Jt., Holmes LB. et al. Genital abnormalitis in females with Bardet-Biedl syndrome. Am J Med Genet 1997 ; 69 : 220.
O'dea D, Parfrey P.S, Harnett JD. et al. The importance of Renal Impairment in the Natural History of Bardet-Biedl Syndrome. Am J Kidney Dis 1996; 27 : 776-83.
Baskin E., Balkanci F., Cekirge S. et al. Renal vascular abnormalities in Bardet-Biedl syndrome. Pediatr Nephrol 1999 ; 13 : 787-89.
Gourdol O, David L, Colon S et al. L'atteinte rénale dans le syndrome de Laurence-Moon-Bardet-Biedl : A propos de trois observations. J Pediatr 1984 ; 3 : 175-81.
Gersohni B R., Nachlieli T., Leibo R. et al. Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. Am J Med Genet 1992; 44: 269-73.
Esmer C., Alvarez Mendoza A., Liberman E. et al. Liver fibrocystic disease and polydactyly : proposal of a new syndrome. Am J Med Genet 2001; 101: 12-16.
Lorda-Sanchez I, Ayuso C, Ibanez A. Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet- Biedl syndrome. Am J Med Genet 2000;90:80-1.
Viggiano D, Santoriello C, Ferreti A et al. First description of Sleep apnea and its clinical consequence on quality of life in Bardet-Biedl syndrome. Resp Med CME. 2008, 1: 182-84.
