Imaging Diagnosis of Von Hippel-Lindau Syndrome.

Introduction: Von Hippel-Lindau (VHL) syndrome is a group of rare autosomal dominant hereditary diseases that involve multiple organs. Due to its high recurrence rate and complex and diverse clinical manifestations, VHL is prone to being either misdiagnosed or missed entirely. Therefore, patients with VHL syndrome have a poor prognosis.

Clinical Features: This study reports the details of 2 patients, a 55-year-old male and a 37-year-old female, who were diagnosed as having VHL syndrome with a positive family history. The male patient presented with upper abdominal discomfort 2 years prior to the current study, and was diagnosed in another hospital as having a space-occupying lesion at the head of the pancreas. After undergoing hemangioblastoma resection of the right cerebellar hemisphere 1 month ago, he was admitted to the hospital for recent aggravation of upper abdominal discomfort to receive further diagnosis and treatment. The female patient previously underwent right ovarian cystectomy and T5-T6 intramedullary hemangioblastoma resection. She was diagnosed at another hospital as having pancreatic cancer, and was admitted to the hospital for recent aggravation of upper abdominal discomfort to receive further diagnosis and treatment.

Conclusion: The diagnosis and treatment of VHL syndrome is currently relatively difficult. It poses a substantial threat to patients and their families. The early and timely diagnosis and treatment of VHL syndrome can improve patients' prognosis and rates of survival.