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Rationale:  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.    Patient concerns:  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.    Diagnoses:  The diagnosis was established via computed tomography scan and was confirmed by genetic testing.    Interventions:  The patient chose to receive conservative treatment and was followed up by magnetic resonance cholangiopancreatography and magnetic resonance imaging examination.    Outcomes:  Renal angiomas and cysts were found during follow-up and there were no evidence of malignant change of the pancreas and biliary system.    Lessons:  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.

Von Hippel-Lindau disease involving pancreas and biliary system