Bardet-Biedl Syndrome: A Case Report

Abstract

Bardet Biedl syndrome is an autosomal recessive ciliopathy. The primary clinical features of BBS include rod?cone dystrophy, polydactyly or dystrophic extremities (brachydactyly and syndactyly), obesity, reduced intelligence, renal dysfunction, and male hypogonadism that manifests in the first decade of life with polydactyly as a congenital feature. The other commonly associated secondary features include hepatic fibrosis, endocrinological disturbances such as diabetes mellitus, hypercholesterolemia, and reproductive abnormalities, short stature, speech defects, and developmental delay. We report a 29-year-old male patient presenting with classical features of BBS with significant similar history in siblings. we confirm the diagnosis on basis of clinical criteria. Genetic testing could not be done due to limited resources. There is no definite treatment. Early diagnosis and symptomatic, supportive and rehabilitative measures can reduce the disability. This includes dietary modification, oral hypoglycaemic drugs, testosterone supplement etc. Relatives of the patient should be screened for renal abnormality.

Keywords: Bardet-Biedl Syndrome, retinitis pigmentosa, hypogonadism