Vol.29 No.2 Case Report PDF

Manifestations of Bardet-Biedl syndrome

Kristine T. Lo, MD, Juancho Remulla, MD, Alvina Pauline Santiago, MD

To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital.

This is a case report.

A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manifestations of the disease: retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities, hypogenitalism, and renal dysfunction.

Bardet-Biedl has ocular and systemic manifestations requiring a multidisciplinary approach to treatment.

Keywords: Bardet-Biedl syndrome, Retinitis pigmentosa, Polydactyly, Hypogenitalism