Gall Bladder Agenesis: A Rare Embryonic Cause of Recurrent Biliary Colic

Abstract

Patient: Female, 24Final Diagnosis: Gallbladder agenesisSymptoms: —Medication: —Clinical Procedure: —Specialty: Gastroenterology and HepatologyObjective:Rare diseaseBackground:Gallbladder agenesis (GA) is an extremely rare anatomic anomaly with a reported incidence of less than 0.5%. It is usually asymptomatic, but can present with features of biliary colic and cholecystitis. We present here a case of GA in a patient with recurrent biliary colic.Case Report:A 24-year-old African American woman presented with recurrent episodes of right upper-quadrant abdominal pain. During her first episode, she was found to have elevated transaminases and clinical features of cholecystitis, but ultrasound did not visualize a gallbladder and she was discharged with a diagnosis of biliary colic. She returned within a week with worsening liver enzymes, severe pain, and vomiting. A hepatobiliary iminodiacetic acid (HIDA) scan was done, which again did not show the gall bladder. On clinical suspicion of acute cholecystitis, she underwent laparoscopic surgery. Intraoperatively, the gall bladder fossa was empty and a diagnosis of gall bladder agenesis was made. She presented a third time with similar complaints and magnetic resonance cholangiopancreatography (MRCP) was done, which showed normal biliary tract anatomy and absent gall bladder. A diagnosis of sphincter of Oddi dysfunction was made and she was discharged on antispasmodics.Conclusions:Diagnosing GA is challenging. The rarity of this entity combined with classic clinical features of cholecystitis and non-visualization of the gall bladder on routine investigation prompts unnecessary surgical intervention. Awareness of this condition, along with use of better imaging modalities like preoperative MRCP, can aide physicians to appropriately manage this uncommon clinical condition.

Gallbladder Agenesis: Report of a Preoperative Diagnosis With Magnetic Resonance Cholangiopancreatography

“…The use of hyoscyamine in association with low-dose antidepressants, such as amitriptyline, can be useful to prevent any recurrence of symptoms, considering functional abdominal pain syndrome related to visceral hypersensitivity as a cause of unexplained biliary colic. No treatment or definitive procedure is required if no symptoms occur because the person with GA is healthy and the prognosis is excellent; regarding follow-up, although there are no guidelines, ultrasound control is considered sufficient for the evaluation of the dilation of the biliary tract and, possibly, an MRCP [9][10][11]. In light of our findings, we opted for a conservative medical therapy and one-year US follow-up.…”

Epehólyag-agenesia. Epekövességet utánzó ritka rendellenesség egy felnőtt nőben

“…Kompenzációs epevezeték-tágulás [7]. Az utóbbi évek során Bennion osztályozása egyszerűsítve lett 1-es típusra (tünetekkel rendelkező), illetve 2-es típusra (tünetmentes) és 1/b altípusra, mely magában foglalja a vele járó végzetes veleszületett elváltozásokat [7]. Az epehólyag-agenesia a sebészi és klinikai megközelítés fontosságát támasztja alá.…”

Gall bladder agenesis: a surgeon’s dilemma

“…The abandoned surgery can always be followed up with a MRCP which can establish the diagnosis. 6,15,17,[20][21][22] We also followed this consensus and once thorough examination of all possible location of gallbladder was carried out, procedure was abandoned and a postoperative MRCP was done to confirm the diagnosis of gallbladder agenesis.…”