ISSN 0970-7700
 

Case Report 


BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS

SANDHYA C. PATEL.

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;


 
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Pubmed Style

SANDHYA C. PATEL. BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. J Res Educ Indian Med . Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720


Web Style

SANDHYA C. PATEL. BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. https://www.jreim-ayushjournal.com/?mno=59462 [Access: December 05, 2023]. doi:10.5455/JREIM.82-1564599720


AMA (American Medical Association) Style

SANDHYA C. PATEL. BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. J Res Educ Indian Med . Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720



Vancouver/ICMJE Style

SANDHYA C. PATEL. BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. J Res Educ Indian Med , [cited December 05, 2023]; Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720



Harvard Style

SANDHYA C. PATEL (0) BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. J Res Educ Indian Med , Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720



Turabian Style

SANDHYA C. PATEL. 0. BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. Journal of Research and Education in Indian Medicine, Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720



Chicago Style

SANDHYA C. PATEL. "BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS." Journal of Research and Education in Indian Medicine Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720



MLA (The Modern Language Association) Style

SANDHYA C. PATEL. "BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS." Journal of Research and Education in Indian Medicine Online First: 19 Jul, 2020. Web. 05 Dec 2023 doi:10.5455/JREIM.82-1564599720



APA (American Psychological Association) Style

SANDHYA C. PATEL (0) BARDET BIEDL SYNDROME – A RARE CASE REPORT WITH BILATERAL DOUBLE FUSED KIDNEYS. Journal of Research and Education in Indian Medicine, Online First: 19 Jul, 2020. doi:10.5455/JREIM.82-1564599720