Abstract
Background
Bardet-Biedl syndrome (BBS) is an autosomal recessive (AR) disorder exhibiting pleiotropy with involvement of multiple body parts or organ-systems. Its prevalence rate in India in not known. Characteristic features are retinitis pigmentosa (RP), obesity, polydactyly, hypogonadism, urinary system malformation, learning disability, etc. Here a unique case of Bardet-Biedl syndrome with bilateral fused double kidneys is discussed.
Case presentation
A 9-year-old male child presented with the confirmed diagnosis of retinitis pigmentosa in the OPD. The parents were concerned about the vision and sought ayurvedic treatment for preservation of eye sight only, which was gradually getting worse. However, there were quite characteristic visible features that led to the detail interrogation and clinical examination, which ultimately helped in establishing the diagnosis of Bardet-Biedl syndrome. With observation of five primary features (RP, polydactyly, hypogonadism, learning disability and obesity) of BBS the child was evaluated further for possible renal malformation and detail hematology and biochemistry abnormalities. The KUB USG revealed bilateral fused double kidneys. These findings are unique and so far have not been reported in India.

Key words: Bardet-Biedl syndrome; fused double kidney; hypogonadism; postaxial polydactyly; retinitis pigmentosa; spatial dysgraphia;