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Gallbladder agenesis is a rare congenital anomaly of the biliary tract, due to failure of the gallbladder and cystic duct budding off of the common bile duct during fetal development. Cholangiocarcinoma (CCA) is a malignant tumor arising from the biliary ducts in patients with underlying chronic biliary tract inflammation, primary sclerosing cholangitis, or other diseases. Although few studies have reported cases of cholelithiasis in patients with congenital gallbladder agenesis, there is only one other known case of concomitant cholangiocarcinoma and congenital gallbladder agenesis. Herein we present a case of recurrent gallstones in a male, diagnosed with gallbladder agenesis intraoperatively and with pathology consistent with cholangiocarcinoma.
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http://dx.doi.org/10.7759/cureus.35224 | DOI Listing |
Prenat Diagn
July 2025
Department of Medical Ultrasonics, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Objective: To explore the predictive potential of prenatal ultrasound features and their capacity to differentiate biliary atresia (BA) in fetuses exhibiting biliary abnormalities.
Methods: Data of pregnant women who underwent routine fetal ultrasound screening during the second trimester (18-27 weeks) were retrospectively analyzed in the 2018-2022 period. Fetuses with suspected biliary abnormalities in the second trimester were identified, and the cases were categorized into 5 groups: enlarged fetal gallbladder, small fetal gallbladder, non-visualized fetal gallbladder, hepatic hilar cyst, and fetal duplicated gallbladder.
Am J Gastroenterol
April 2025
Department of Medicine, Division of Digestive & Liver Diseases, University of Texas Southwestern, Dallas, Texas, USA.
Proc Natl Acad Sci U S A
January 2025
Key Laboratory of Freshwater Fish Reproduction and Development, Ministry of Education, State Key Laboratory Breeding Base of Eco-Environments and Bio-Resources of the Three Gorges Reservoir Region, School of Life Sciences, Southwest University, Chongqing 400715, China.
Heterozygotic mutations are responsible for various congenital diseases in the heart, pancreas, liver, and other organs in humans. However, there is lack of an animal that can comprehensively model these diseases since GATA6 is essential for early embryogenesis. Here, we report the establishment of a knockout zebrafish which recapitulates most of the symptoms in patients with mutations, including cardiac outflow tract defects, pancreatic hypoplasia/agenesis, gallbladder agenesis, and various liver diseases.
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February 2025
Fetal Medicine Unit, Elizabeth Garrett Anderson Wing, University College Hospital, London, UK.
Objective: To describe postnatal outcome following the prenatal diagnosis of an abnormal fetal gallbladder.
Methods: We conducted a systematic review of studies from January 1980 to January 2023 that described FGB abnormalities, which included agenesis or non-visualisation, abnormal content presence of sludge, abnormal shape or size and abnormal position, and postnatal outcome to determine the association with pathology.
Results: In 51 studies, 842 fetuses had abnormal FGB.
Int J Gynaecol Obstet
March 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara Bilkent City Hospital, Ankara, Turkey.
Objective: The objective of this study was to investigate the ultrasonographic characteristics and outcomes of fetuses with atypical and non-visualized fetal gallbladder in our tertiary care hospital.
Methods: A retrospective analysis was conducted on cases in which the fetal gallbladder was not visualized or exhibited atypical characteristics at our institution over a four-year period. The patients were divided into two groups: absent gallbladder and atypical gallbladder.