Radiological considerations in von Hippel-Lindeau disease: imaging findings and the review of the literature

Abstract

Background. Von Hippel Lindau disease is an autosomal dominant multisystem/multitumoral cancer disease diagnosed by clinical, radiologic and genetic findings. Its prevalence has been estimated to be of 1/36000 inhabitants. The tumours can be benign or malignant.

Case report. We represent MR findings of a family with ten children. Mother and five siblings had von Hippel-Lindau disease.

Conclusions. Radiologic imaging is very important for the early diagnosis and treatment of asymptomatic patients. Diagnosing it early is important because the tumours in von Hippel Lindau disease are treatable. Also, an early detection allows the patient's survival and quality of life. A multidisciplinary team approach is important in screening.