Zhi Xu-Ting, Bo Qi-Yu, Zhao Feng, Sun Dong, Li Tao
Department of General Surgery, Qilu Hospital, Shandong University Department of Operating Room, Qilu Hospital, Shandong University Department of General Surgery, Qihe County Hospital of Traditional Chinese Medicine, Jinan, China.
Medicine (Baltimore). 2017 Jan;96(1):e5808. doi: 10.1097/MD.0000000000005808.
Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. VHL patients are prone to develop benign and malignant tumors and cysts in multiple organ systems involving kidneys, pancreas and central nervous system (CNS). The varied and complex clinical manifestations and radiological findings of VHL are of interest.
We report a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system. To the best of our knowledge, direct involvement of the biliary system in VHL disease has never been reported.
The diagnosis was established via computed tomography scan and was confirmed by genetic testing.
The patient chose to receive conservative treatment and was followed up by magnetic resonance cholangiopancreatography and magnetic resonance imaging examination.
Renal angiomas and cysts were found during follow-up and there were no evidence of malignant change of the pancreas and biliary system.
We described the first case of VHL-associated choledochal cysts and may present new visceral manifestations of VHL disease. Gastroenterologists should be aware of the clinical presentations of this rare disease for early detection of its life-threatening manifestations.
冯·希佩尔-林道（VHL）病是一种罕见的常染色体显性遗传综合征，由VHL基因的杂合种系突变引起。VHL患者容易在包括肾脏、胰腺和中枢神经系统（CNS）在内的多个器官系统中发生良性和恶性肿瘤及囊肿。VHL多样且复杂的临床表现和影像学表现令人关注。
我们报告一名38岁女性，有10年累及胰腺和胆道系统的VHL病史。据我们所知，VHL病直接累及胆道系统此前从未有过报道。
通过计算机断层扫描确立诊断，并经基因检测证实。
患者选择接受保守治疗，并通过磁共振胰胆管造影和磁共振成像检查进行随访。
随访期间发现肾血管瘤和囊肿，且无胰腺和胆道系统恶变的证据。
我们描述了首例VHL相关的胆总管囊肿病例，可能呈现了VHL病新的内脏表现。胃肠病学家应了解这种罕见疾病的临床表现，以便早期发现其危及生命的表现。
