Bardet-Biedl Syndrome with Choledochal Cyst: Rare Association with a Novel Variant

Bardet-Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders. Other manifestations include congenital heart diseases, he...

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Bibliographic Details
Published in:Journal of Indian Association of Pediatric Surgeons 2023, Vol.28 (6), p.520-522
Main Authors: Kumar, Saket, Harisankar, A G, Singh, Nidhi, Kumar, Singh Rakesh, Mayank, Nilay
Format: Report
Language:English
Online Access:Get full text
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Summary:Bardet-Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders. Other manifestations include congenital heart diseases, hepatic fibrosis, ataxia, and diabetes. Approximately 30% of patients with Biedl-Bardet syndrome (BBS) have hepatobiliary disorders such as periportal fibrosis, nonalcoholic fatty liver disease, and cystic dilation of the bile ducts. The association of BBS with choledochal cysts (CDC) is extremely rare. Here, we report a case of a 14-year-old boy with a novel variant of BBS and associated type IV CDC. The patient was managed surgically with CDC excision and Roux-en-Y hepaticojejunostomy.
ISSN:0971-9261
DOI:10.4103/jiaps.jiaps_124_23