Diagnosis and treatment of Von Hippel-Lindau syndrome: A case series

The objective of the present case report was to explore the clinical approaches to diagnosing and managing Von Hippel-Lindau (VHL) syndrome. A retrospective review was performed on the clinical presentations, imaging findings and family genetic histories of four patients diagnosed with VHL syndrome. Their clinical features and treatment strategies were systematically analyzed. The cohort comprised of four patients, one male and three female patients, with ages at initial onset ranging from 24 to 38 years, and a median age of 32.3 years. None of the patients reported a family history of the condition, and all patients showed central nervous system hemangioblastomas and pancreatic cysts. The results of the present study demonstrated that VHL syndrome presents with a broad spectrum of clinical manifestations, often with considerable time intervals between the involvement of different organ systems. The study highlights that the presence of tumors in the central nervous system, pancreas, kidneys or other organs should prompt consideration of VHL syndrome. Accurate diagnosis relies on a thorough checking of medical history, comprehensive imaging studies and confirmatory genetic testing. The marked clinical heterogeneity and phenotypic complexity of VHL syndrome pose substantial diagnostic challenges for both clinicians and patients. The present study systematically characterizes the clinical manifestations and radiological signatures of VHL syndrome, providing actionable insights to enhance diagnostic precision and clinical decision-making.