A Case of Symptomatic Gallbladder Agenesis with Chronic Abdominal Symptoms

Abstract

The anatomical area of the extrahepatic bile ducts exhibits plethora of anatomic variants. The detailed study and comprehension of anatomic variations of extrahepatic bile ducts is a prerequisite in order to avoid the intraoperative biliary or tract damages, but they are also necessary for the targeted treatment of any complications. Gallbladder agenesis is a rare congenital anomaly of the biliary tree with an estimated incidence of 0.007-0.027% in surgical series which is much lower compared to the incidence of other gallbladder anomalies. It may be asymptomatic, but sometimes is associated with symptoms such as upper quadrant abdominal pain, which may be mistaken for cholecystitis and can lead the patient to the operating room. We present a case of a 30-year-old male patient without any significant past medical history presented with a 2-year history of upper abdominal complaints, dyspepsia, epigastric abdominal pain and weight loss, normal laboratory workup and unclear radiological signs which led him to exploratory laparoscopy due to the patient’s chronic symptoms, in order to exclude the presence of another underlying pathologic process. In addition to our case presentation, a relative  review of literature was conducted. As a conclusion, examinations, such as transabdominal ultrasonography, may be misleading and MCRP should be the principal method of investigation to establish a presumptive diagnosis. However, in cases with a strong suspicion for a different underlying pathology, further investigation with exploratory laparoscopy may be warranted.

Gallbladder Agenesis Mimicking Chronic Cholecystitis in a Young Woman

“…Gallbladder agenesis can be associated with several genitourinary, gastrointestinal, or cardiovascular malformations, including Klippel-Feil syndrome, cerebrotendinous xanthomatosis, Trisomy 18, malrotation of the gut, and heterotaxy syndromes [5][6][7].…”

“…Several case reports published had a similar clinical presentation of upper abdominal pain resembling biliary colic, along with normal or elevated laboratory workup and unclear radiological signs [1][2][3][4][5]7,[8][9][10]. Other common presentations include nausea and/or vomiting (66%), fatty food intolerance (37.5%), dyspepsia, bloating, and occasional jaundice [7].…”

“…The rarity of the condition and its uncertain imaging features often leads to misdiagnosis and unwarranted surgical procedures [5]. We present a clinical case of gallbladder agenesis mimicking and presenting as chronic cholecystitis.…”

“…Literature evidence suggests that only 500 similar clinical cases have been reported [4]. During autopsies, gallbladder agenesis is frequently encountered equally among both males and females, but women are twice as likely to be clinically presenting with symptoms [5].…”

“…Gallbladder agenesis most often presents as an isolated, non-syndromic entity and is diagnosed often later in life. Furthermore, gallbladder agenesis is associated with, and found in one out of every six cases of, extrahepatic biliary atresia [5].…”