Alzahrani Hassan A, Yamani Nizar M
Department of Surgery, King Fahad National Guard Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Am J Case Rep. 2014 May 2;15:185-8. doi: 10.12659/AJCR.890523. eCollection 2014.
Female, 68 FINAL DIAGNOSIS: Gallbladder agenesis with situs inversus totalis Symptoms: Epigastric pain • jaundice
Rare disease.
Situs inversus totalis is an inherited condition characterized by the mirror-image transposition of thoracic and abdominal organs. Gallbladder agenesis, which has normal bile ducts, is a rare congenital condition that occurs in 13 to 65 people out of 100 000. A common bile duct (CBD) stone or choledocholithiasis in patients with gallbladder agenesis is even rarer.
We report the case of a 68-year-old woman who presented with epigastric pain and jaundice. She was not known to have situs inversus totalis. Abdominal ultrasound showed a large stone in the CBD, which could not be extracted by endoscopic retrograde cholangiopancreatography (ERCP), necessitating exploration. The gall-bladder and cystic duct were found to be absent. Incisional exploration of the CBD was performed, and a large stone was removed. A choledochoscope was used to identify the remnants and exclude the presence of ectopic gallbladder, and a T-tube was placed into the CBD.
Gallbladder agenesis in a patient with situs inversus totalis is extremely rare, with no single reported case identified in the literature. In addition, our case showed a rare complication of ERCP - a failure to extract the CBD stone - and illustrates a way to overcome this complication.
女性，68岁 最终诊断：全内脏转位伴胆囊缺如 症状：上腹部疼痛、黄疸
罕见病
全内脏转位是一种遗传性疾病，其特征为胸腹部器官呈镜像转位。胆囊缺如且胆管正常是一种罕见的先天性疾病，每10万人中约有13至65人发病。胆囊缺如患者出现胆总管结石或胆总管结石病的情况更为罕见。
我们报告一例68岁女性患者，表现为上腹部疼痛和黄疸。此前未发现其患有全内脏转位。腹部超声显示胆总管内有一大结石，经内镜逆行胰胆管造影（ERCP）无法取出，因此需要进行探查。结果发现胆囊和胆囊管缺如。对胆总管进行切开探查，取出一大结石。使用胆道镜识别残余组织并排除异位胆囊的存在，然后在胆总管内放置T形管。
全内脏转位患者出现胆囊缺如极为罕见，文献中未报道过单一病例。此外，我们的病例显示了ERCP的一种罕见并发症——无法取出胆总管结石，并说明了克服这一并发症的方法。
