Gallbladder agenesis is a rare congenital malformation that can present itself with comparable symptoms as any case of cholelithiasis. We present a case of a 76-year-old male patient without any medical background of significance who presented at the ER complaining of sudden abdominal pain that started two hours prior to his arrival. Laboratory tests were ordered and an increase in total bilirubin was noted, showing a cholestatic pattern. An abdominal ultrasound was performed where the gallbladder could not be found; therefore, an abdominal CT and an MRI were ordered, which later confirmed gallbladder agenesis. Endoscopic retrograde cholangiopancreatography (ERCP) was then performed with sphincterotomy and the patient was discharged 24 hours later without any complications noted. Gallbladder agenesis is a rare but important diagnosis that general surgeons must have in their diagnostic repertoire because of its ability to mimic acute cholecystitis or cholelithiasis. The objective of this report is to summarize the principal details of this entity.
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http://dx.doi.org/10.7759/cureus.51078 | DOI Listing |
Medicine (Baltimore)
January 2025
Hepatobiliary Surgery, Hepatobiliary Disease Laboratory, Kailuan General Hospital, Tangshan, Hebei Province, China.
Rationale: Triple gallbladder is a rare congenital anatomical abnormality because of the incomplete regression of rudimentary bile ducts and is often not found until it is accidentally detected during imaging research.
Patient Concerns: We report a rare case of triple gallbladder malformation and review the English literature on biliary tract variation caused by gallbladder malformation. The diagnosis, treatment, and postoperative situation of the patients were summarized and analyzed.
Int J Emerg Med
January 2025
Department of general surgry, Faculty of medicine, Misr university for science and technology, Giza, Egypt.
Introduction: The coexistence of gallbladder (LSG) and adenomyomatosis (ADM) is extremely uncommon presenting a novel clinical dilemma that has not been previously documented. LSG refers to a anomaly where the gallbladder is situated to the left of the round ligament deviating from its usual position. This anomaly is rare, with reported occurrences ranging between 0.
View Article and Find Full Text PDFPsychiatr Genet
February 2025
Department of Obstetrics.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.
View Article and Find Full Text PDFProc 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.
View Article and Find Full Text PDFMol Genet Metab
December 2024
The Children's Hospital of Philadelphia, Neurology, 3401 Civic Center Blvd, Philadelphia 19104, PA, USA. Electronic address:
Metachromatic leukodystrophy (MLD) is a progressive demyelinating disorder resulting from the toxic accumulation of sulfatides. The stereotyped neurodegeneration of MLD is well understood, and cases are categorized into subtypes by age at neurologic onset: late infantile (LI), juvenile (J), and adult. The systemic burden of disease, such as gallbladder involvement, however, is less well characterized.
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