Zeyn Mirza, MD1, Henry De Jesús, MD2, Rodolfo Estremera, MD1, Jose Martin-Ortiz, MD, FACG1, Doris Toro-Lugo, MD1
1VA Caribbean Healthcare System, San Juan, Puerto Rico; 2Hospital de Veteranos (VA Caribbean Healthcare System), San Juan, Puerto Rico
Introduction: Congenital agenesis of the gallbladder is a rare anomaly that occurs during embryonic development with an average incidence of 0.02% at birth. The clinical presentation is varied as patients may be asymptomatic; therefore, isolated gallbladder agenesis is usually discovered incidentally on imaging. Up to 50% of patients may present with symptoms similar to a biliary colic, such as right upper quadrant pain, nausea, vomiting and jaundice. We present an interesting case of an octogenarian who was first diagnosed with gallbladder agenesis after presenting with obstructive jaundice due to choledocholithiasis.
Case Description/Methods: This is the case of an 88 year-old male with past medical history of hypertension and chronic kidney disease, presented to the emergency department with right upper quadrant abdominal pain, nausea and non-bloody vomits. He appeared acutely ill with pain in the right upper quadrant. Laboratory tests were remarkable for a cholestatic pattern. Total bilirubin 5.1 mg/dL, alkaline phosphatase 676 IU/L, AST 167 IU/L, and ALT 111 IU/L. There was prior history of exposure to Hepatitis A. Hepatitis B and Hepatitis C were negative. In view of the clinical presentation, an abdominal ultrasound was done. There was evidence of choledocholithiasis with extensive intra and extrahepatic duct dilation. At the gallbladder fossa, there was “WES sign” indicating a gallbladder full of stones. The patient was admitted to the hospital and underwent ERCP with a sphincterotomy with stones extraction. The gallbladder was not visualized. An abdominopelvic CT and HIDA scan confirmed its absence.
Discussion: Gallbladder agenesis is a rare entity and seldomly diagnosed for the first time in the ninth decade of life. It is estimated that 25%-50% of this subset of patients may develop choledocholithiasis. The association between these two entities is hypothesized to be similar to post-cholecystectomy syndrome: biliary dyskinesia may favor stone formation. In addition, hypertonic contractions of the sphincter of Oddi may lead to common duct dilation, biliary stasis and also predispose to calculi formation.
This case provides an important point to increasing awareness of this condition to avoid misdiagnosis, unnecessary procedures and prolonged hospitalizations. In patients who present with biliary colic, jaundice with equivocal gallbladder imaging findings, the possibility of gallbladder agenesis should be entertained.
Citation: Zeyn Mirza, MD; Henry De Jesús, MD; Rodolfo Estremera, MD; Jose Martin-Ortiz, MD, FACG; Doris Toro-Lugo, MD. P0102 - A RARE CONGENITAL ANOMALY UNVEILED IN AN OCTOGENARIAN. Program No. P0102. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.