Imaging Manifestations of Von Hippel Lindau Disease

Abstract Introduction and importance: Von Hippel-Lindau (VHL) disease is a rare genetic condition inherited in an autosomal dominant manner. It was first described independently by Von Hippel in 1911 and Lindau in 1926. The disease affects approximately 1 in every 36,000 live births. VHL is known for causing both benign and malignant tumors, along with cysts in various organs. Early and accurate diagnosis is crucial for effective prognosis and management. Case presentation: In this study, we present a case of a 48-year-old man diagnosed with VHL disease, characterized by multiple lesions in the central nervous system (CNS), retina, and renal cortex. He underwent surgical treatment and showed significant improvement, with notable alleviation of his signs and symptoms observed at a 3-month follow-up. Discussion: VHL disease involves the development of both benign and malignant tumors, as well as cysts in several organs. It is inherited in an autosomal dominant manner with nearly complete penetrance across generations. Surgical intervention is typically used to manage CNS lesions. Regular follow-up appointments are essential for monitoring the condition. Conclusions : VHL disease is highly complex, requiring diagnosis and genetic testing for both patients and their family members. Close monitoring of carriers of the mutated gene is essential to achieve early diagnosis and effective treatment of malignancies. The significant expenses associated with diagnostic tests and surgical treatments pose a substantial challenge. Therefore, government support and financial assistance are crucial aspects to address in managing this condition.