Diagnosis of von Hippel-Lindau Syndrome Following Endoscopic Ultrasound of the Pancreas

Abstract

ABSTRACT Objective To report a case of von Hippel-Lindau (VHL) syndrome diagnosed by endoscopic ultrasound (EUS) of the pancreas in a patient with no family history of the disease and without any other clinical manifestations of VHL. Methods We describe the clinical presentation of the case and discuss its management. Results A 33-year-old woman was evaluated by EUS for possible pancreatic carcinoma. Based upon the sonographic appearance of her pancreas, VHL was suggested as a diagnosis and subsequently confirmed by genetic testing. The pancreatic lesions were treated surgically and pathology revealed pancreatic islet cell tumors. Conclusion This is the first report of a patient in which the first suggestion of a VHL diagnosis was made on EUS appearance of pancreatic lesions alone.