Department of Pediatrics, Sakai City Medical Center, 1-1-1 Ebaraji-Cho, Nishi-Ku, Sakai City, Osaka, 593-8304, Japan.
BMC Pediatr. 2018 Nov 19;18(1):360. doi: 10.1186/s12887-018-1343-0.
Gallbladder 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.
We 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.
We 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.
胆囊缺如症是一种罕见的先天性畸形。超过 50%的病例是孤立的且无症状的。这些无症状患者通常身体健康，无需干预。然而，一些患者会出现症状，表现出与胆道疾病相似的临床体征和症状。这些症状通常发生在患者的第四或第五个十年。目前，胆囊缺如症的诊断采用多种影像学手段结合，无需手术干预，以避免手术后出现严重并发症。
我们描述了一例 13 岁日本女孩，她曾反复发作肝损伤，但未进行彻底检查。她因发热、疲劳和异常血液检查（提示肝功能受损）就诊于我院。胸部 X 线检查结果结合阳性环介导等温扩增检测结果提示肺炎支原体肺炎，给予口服阿奇霉素治疗。为了调查潜在的肝损伤，我们进行了几项影像学检查，包括腹部超声、磁共振胰胆管成像和增强计算机断层扫描。这些影像学检查显示肝脏正常，但胆囊在患者的影像学检查中并未出现在通常或任何异常位置。基于这些结果，我们诊断为胆囊缺如症；然而，她肝损伤的病因尚未明确。
我们报告了一例胆囊缺如症伴肝损伤的病例，该病例在无需手术干预的情况下做出了诊断。当遇到反复肝损伤时，临床医生应进行详细的检查。
