title: Von Hippel-Lindau disease involving pancreas and biliary system: A rare case report.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  The diagnosis was established via computed tomography scan and was confirmed by genetic testing.
  
  
  METHODS
  The patient chose to receive conservative treatment and was followed up by magnetic resonance cholangiopancreatography and magnetic resonance imaging examination.
  
  
  RESULTS
  Renal angiomas and cysts were found during follow-up and there were no evidence of malignant change of the pancreas and biliary system.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Xu-Ting
authors.initials: XT
authors.lastname: Zhi
authors.forename: Qi-Yu
authors.initials: QY
authors.lastname: Bo
authors.forename: Feng
authors.initials: F
authors.lastname: Zhao
authors.forename: Dong
authors.initials: D
authors.lastname: Sun
authors.forename: Tao
authors.initials: T
authors.lastname: Li
mesh_terms: D000328:Adult; D001659:Biliary Tract / Q000000981:diagnostic imaging / Q000473:pathology; D049448:Cholangiopancreatography, Magnetic Resonance / Q000379:methods; D000072700:Conservative Treatment / Q000379:methods; D005260:Female; D005820:Genetic Testing; D006801:Humans; D010179:Pancreas / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed / Q000379:methods; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy