Bardet–biedl syndrome in an Ethiopian

Abstract

Bardet–Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardation, and hypogonadism. Renal failure is known to be the main cause of death in patients with BBS. Retinal dystrophy and other eye diseases seen in patients with BBS can cause severe visual impairment and blindness at an early age. After written consent was obtained from the patient, we report the clinical and laboratory data of the first case from Ethiopia of an 18-year-old boy with multi-system manifestations of the Bardet–Biedl Syndrome. We discuss the main clinical manifestations of the syndrome including its potentially blinding and fatal features. We emphasize the need for diagnosis of this syndrome at an early age as possible so that proper and multidisciplinary medical care can be given for such patients to prevent unnecessary morbidity and early mortality.