Sixth Cardinal Feature of Bardet-Biedl Syndrome in a Child: Cystic Kidney Disease - Case Report

Abstract

The cardinal manifestations of Bardet–Biedl Syndrome are described to include retinal dystrophy, obesity, polydactyly or dysmorphic extremities, mental retardation, and hypogonadism which especially affects boys. Renal involvement has been described as a sixth cardinal feature. Only in the last 20 years has a significant renal component been noted. The spectrum of renal involvement can range from calyceal clubbing or cysts to diffuse renal cortical loss. We present an 8-year-old girl with Bardet–Biedl Syndrome who had bilateral lobulated and multicystic kidneys. Follow up of these children is essential for renal involvement and also includes imaging.