Year: 2026
Type: article
Study design: Case Report
Abstract: Congenital anomalies of the gallbladder are exceedingly rare and, as a result, may complicate the diagnosis of biliary disease, especially when imaging findings do not align with clinical presentation. Phocomelia is a rare congenital malformation with multisystem involvement, though hepatobiliary anomalies are seldom reported. We present the case of a 45-year-old woman with phocomelia who presented with right upper quadrant pain and elevated bilirubin. Ultrasound and a hepatobiliary iminodiacetic acid scan were unremarkable, whereas computed tomography showed a fluid-filled structure along the superior hepatic surface, with the gallbladder absent from its expected fossa. Diagnostic laparoscopy demonstrated an ectopic suprahepatic gallbladder with a markedly elongated cystic duct and inflammatory changes. Laparoscopic cholecystectomy was performed with complete resolution of symptoms. This case highlights that anatomic variation, especially in phocomelia, may obscure typical imaging findings and warrants a high index of clinical suspicion when results are discordant.
Source: Cureus
Language: English
Subfield: Gastroenterology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7213672528