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

Saket Kumar; A G Harisankar; Nidhi Singh; Singh Rakesh Kumar; Nilay Mayank

doi:10.4103/jiaps.jiaps_124_23

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

J Indian Assoc Pediatr Surg. 2023 Nov-Dec;28(6):520-522. doi: 10.4103/jiaps.jiaps_124_23. Epub 2023 Nov 2.

Authors

Saket Kumar¹, A G Harisankar¹, Nidhi Singh², Singh Rakesh Kumar¹, Nilay Mayank³

Affiliations

¹ Department of Surgical Gastroenterology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India.
² Department of Anesthesiology, BIG Apollo Spectra Hospitals, Agamkuan, Patna, Bihar, India.
³ Department of Medical Genetics, Post Graduate Institute of Child Health, Noida, Uttar Pradesh, India.

Abstract

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.

Keywords: Bardet–Biedl syndrome; biliary cyst; choledochal cyst; ciliopathy; congenital anomaly; genetic mutation.

Publication types

Case Reports