Case Report: Managing Bardet-Biedl syndrome at a tertiary care centre

Abstract

Bardet-Biedl syndrome (BBS), a rare ciliopathy, is a genetic disease with autosomal recessive inheritance which presents with multiple organ system involvement. It usually presents with renal dysfunction, dystrophy of rods and cones, obesity, hypogonadism, post-axial polydactyly, learning difficulties and other minor features. The treatment of this condition is primarily symptomatic and involves a multidisciplinary approach. We here present a case report of 42-year-old male patient presenting in the medicine department with renal impairment, metabolic syndrome, blindness, polydactyly, diabetes mellitus, and a learning disability. He was managed for renal impairment, hypertension and metabolic syndrome using the various approaches including medicines, dietary modifications including diabetic and renal diet, and lifestyle modifications. His renal function improved after the treatment, and he was able to lose weight which improved his diabetes control, cholesterol levels, and liver enzymes. This case underscores the importance of a multidisciplinary and wholistic approach while managing a case with BBS.