Abbreviations:
BBS: Bardet Biedl Syndrome
ACE: Angiotensin Converting EnzymeAbstractBardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder
characterized by congenital and late onset defects. It is associated
with retinal dystrophy, obesity, polydactyly, hypogonadism and renal
dysfunction.
Proper management and regular health visits are necessary to avoid
complications. We present a patient with retinal dystrophy, obesity
and new onset hypertension.Key words : Bardet-Biedl syndrome, congenital, adolescence,
obesity, retinal dystrophy, hypertension.IntroductionBardet Biedl Syndrome (BBS) is a pleiotropic genetic disorder with an
autosomal recessive mode of inheritance. Laurence and Moon, two
ophthalmologists, first reported it in 1866. BBS occurs because of a
defect in BBS genes that code for many ciliary-related proteins.
Therefore, it is classified as a ciliopathic disorder that arises due
to ciliary dysgenesis and dysfunction [1]. To
this date, 20 genes have been identified and all of them disrupt
ciliary function. The prevalence of BBS varies from 1:160,000 in
Northern European populations to 1:13,500 and 1:17,500 in Kuwait and
Newfoundland respectively [2]. Genetic testing
confirms the diagnosis in most cases. However, diagnosis is primarily
clinical [3].
According to the Bardet Biedl Syndrome (BBS) modified diagnostic
criteria proposed by Beales et al, our patient met 5 of 6 primary
clinical features (rod-cone dystrophy, polydactyly, obesity, learning
difficulties, hypogonadism). Differential diagnosis of BBS includes
Laurence-Moon syndrome, Alström Syndrome and Prader-Wili Syndrome.
Laurence-Moon syndrome exhibits spastic paraparesis and distal muscle
weakness whereas polydactyly is seen in BBS.