Bardet-biedl Syndrome With Ttc8 Mutation in a Kenyan Adolescent: A Case Report From a Rural Public Hospital

Abstract Bardet-Biedl syndrome (BBS) is a rare inherited disorder of ciliopathy characterized by dysfunction of primary cilia resulting in a myriad of manifestations in various organ systems. These manifestations include progressive retinal dystrophy, central obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. Additional manifestations include, but are not limited to, hypertension, diabetes mellitus, congenital heart disease, hepatic fibrosis, asthma and neurological features, illustrating the complexity of its clinical spectrum. The clinical features of BBS patients are widely shared with those of patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders. Moreover, mutations in cilia-related genes can cause different ciliopathies. Herein, we report a case of a 14-year-old boy with progressive vision loss, mental retardation, delayed puberty as well as toe and finger abnormalities. Genetic tests confirmed Bardet-Biedl syndrome. The caregiver was offered genetic counselling and the boy was started on supportive management, including puberty induction.