A rare multisystemic, ciliopathic autosomal recessive disorder called Bardet-Biedl syndrome (BBS) primarily affects children of consanguineous marriages. Both men and women are affected by it. It is characterized by some major and many minor features to aid in the clinical diagnosis and management. Here, we reported two Bangladeshi patients (a 9-year-old girl and 24-year-old male) who were presented with various major and minor features of BBS. Both patients came to us with the symptoms including excessive weight gain, poor vision, and learning disabilities with polydactyly. Our case 1 presented four primary features (retinal degenerations, polydactyly, obesity, and learning deficits) and six secondary features (behavioral abnormality, delayed development, diabetes mellitus, diabetes insipidus, brachydactyly, and LVH), whereas case 2 presented five major criteria (truncal obesity, polydactyly, retinal dystrophy, learning disabilities, and hypogonadism) and six minor criteria (strabismus and cataract, delay in speech, behavioral disorder, developmental delay, brachydactyly and syndactyly, and impaired glucose tolerance test). We diagnosed the cases as BBS. Because there is no specific treatment for BBS, we highlighted the importance of diagnosing it as early as possible so that comprehensive and multidisciplinary care can be offered to prevent avoidable morbidity and mortality.
Copyright © 2023 Fariah Osman et al.