Long-term follow-up and clinical course of a rare case of von Hippel-Lindau disease: A case report and review of the literature

摘要

von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited neoplastic syndrome that increases susceptibility to a variety of benign and malignant neoplasms. It has been well documented that, despite complete excision of initial neoplasms, VHL patients may develop further lesions, in some cases many years after the initial diagnosis. Therefore, the varied and complex clinical manifestations and radiological findings of VHL are of interest. The current study is the first to describe a case of VHL disease with lateral ventricular hemangioblastomas and subsequent pancreatic neuroendocrine tumor, bilateral renal cysts and renal cell carcinoma. The complete clinical course, radiological findings, including ultrasound, computed tomography and magnetic resonance imaging (MRI), and associated pathological findings are presented. Radiology is critical in the accurate diagnosis, treatment and follow-up of VHL. Continuous close and long-term follow-up with radiological examination, particularly MRI, must be conducted in patients with VHL disease. To the best of our knowledge, the current case is a rare phenomenon that has not yet been described in the English literature.