| CASE REPORT |
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| Year : 2023 | Volume
: 28
| Issue : 6 | Page : 520-522 |
Bardet–Biedl syndrome with choledochal cyst: Rare association with a novel variant
Saket Kumar1, AG Harisankar1, Nidhi Singh2, Singh Rakesh Kumar1, Nilay Mayank3
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
Correspondence Address:
Saket Kumar
Department of Surgical Gastroenterology, Indira Gandhi Institute of Medical Sciences, Sheikhpura, Patna - 800 014, Bihar
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jiaps.jiaps_124_23
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.
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