Syndrome de Bardet-Biedl: à propos d’un cas

Gharbi, R.; Bouslimi, J.; Rhaiem, B. Ben; Abdelkalek, H.; Saidi, Hamza

doi:10.1016/j.ando.2014.07.643

Cited by 1 publication

(1 citation statement)

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“…Bardet Biedl syndrome (SBB) is an inherited disease with autosomal recessive transmission. Currently, 22 genes (BBS1 to BBS22) have been implicated in this condition coding for proteins involved in the development and functioning of the primary eyelash [1,2]. In Africa, the first case was described in 1991 in Zimbabwe, but the genetic form was not specified [3].…”

Section: Introductionmentioning

confidence: 99%

Bardet Biedl Syndrome: About 3 Cases

Pierre

Abou²,

Aissatou³

et al. 2022

JOJO

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Aim: To report 3 cases of Barded Biedl syndromes (BBS) with their clinical characteristics ophthalmic and therapeutic aspects. Observations:We report 3 cases of children with a BBS. It was a descriptive and analytical study. The average age was 14 years. They were 2 boys and one girl. All the patients had an eye examination, a general pediatric examination and paraclinical exams. According to BEALES criteria, they all presented a BBS. The treatment was: diet advice; insulin therapy; corrective lenses; vitamin therapy A and E; renal protection, clinical and biological monitoring especially renal, ophthalmological and blood sugar monitoring. A child (case 3) died after 18 days in hospital of renal failure. Discussion & Conclusion:BBS is a rare genetic disease. It is a part of a large group of syndromes called ciliopathies. The ophthalmological involvement determines the functional prognosis and the renal impairment, affects the vital prognosis. An early and correct treatment is necessary. The genetic counselling plays an important role in the prevention of this disease.

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Section: Introductionmentioning

confidence: 99%