Gallbladder agenesis with hepatic impairment: a case report

Abstract

BackgroundGallbladder agenesis is a rare congenital malformation. More than 50% of cases are isolated and asymptomatic. These asymptomatic patients are principally healthy and need no interventions. However, some patients develop symptoms, presenting with clinical signs and complaints similar to those of biliary tract disease. Symptoms commonly occur in the fourth or fifth decade of life of the patient. At the present time, gallbladder agenesis is diagnosed using a combination of imaging modalities, without surgical intervention, to avert serious complications following surgery.Case presentationWe describe a 13-year-old Japanese girl with a history of recurrent hepatic impairment, which had not been thoroughly investigated. She was referred to our hospital following 2 days of fever, fatigue, and abnormal blood tests suggested impaired liver function. Data from chest X-ray findings combined with a positive loop-mediated isothermal amplification assay result indicated Mycoplasma pneumoniae pneumonia, which was treated with oral azithromycin. To investigate potential hepatic impairment, we performed several imaging studies, namely, abdominal ultrasonography, magnetic resonance cholangiopancreatography, and contrast enhanced computed tomography. These imaging studies revealed a normal liver; however, the gallbladder was not in the usual nor any aberrant position in imaging investigations of the patient. Based on these results, we diagnosed gallbladder agenesis; however, the etiology of her hepatic impairment has not been elucidated.ConclusionWe present a case of gallbladder agenesis with hepatic impairment, where the diagnosis was made without surgical intervention. Clinicians should perform a detailed investigation when they encounter repeated hepatic impairment.

Case report of a gallbladder agenesis, a diagnostic challenge

“…It can present on its own or in association with other malformations and syndromes. When solitary, it is usually asymptomatic, diagnosed incidentally as a finding on imaging techniques or in necropsies [2] , [5] , [6] , [7] . Mild symptomatic cases presenting as biliary colic have also been described, leading to unnecessary surgeries [2] , [3] , [4] , [5] , [6] , [7] .…”

“…When solitary, it is usually asymptomatic, diagnosed incidentally as a finding on imaging techniques or in necropsies [2] , [5] , [6] , [7] . Mild symptomatic cases presenting as biliary colic have also been described, leading to unnecessary surgeries [2] , [3] , [4] , [5] , [6] , [7] . In such cases, pain is believed to arise from an added sphincter of Oddi dysfunction, either worsening biliary ectasia and favoring gallstone formation in the common bile duct or causing a biliary dyskinesia with painful spasms of the Oddi sphincter [1] , [3] , [4] , [6] .…”

“…Up to date its diagnosis still poses a challenge, as an absent gallbladder may not always be apparent by US, with the MRCP being the gold-standard for examining the biliary tract [1] , [2] , [3] , [4] , [5] , [6] , [7] . Importantly, fasting should be ensured prior to radiologic examination in order to avoid false agenesia images in empty gallbladders.…”

Epehólyag-agenesia. Epekövességet utánzó ritka rendellenesség egy felnőtt nőben

“…3. Aszimptomatikus [3,4] Ectopiás epehólyagot keresve megvizsgáltuk a hasüreget, de más anatómiai elváltozást nem találtunk (3. ábra). Úgy döntöttünk, hogy a kimerítő dissectio fölösleges, és néha epeúti, illetve májlaesiókhoz vezethet.…”

Gallbladder Agenesis without Additional Biliary Tracts Abnormality

“…As a result, it becomes challenging to distinguish GA from other biliary illnesses. The disease's rarity and difficulty in preoperative diagnosis is a challenging issue that may result in unnecessary surgical intervention, a high risk of iatrogenic damage, and increased morbidity [ 4 ].…”