Von Hippel-Lindau Disease: A Rare Radiological Case Report of a Symptomatic Patient and His Asymptomatic Genetic Counterpart

Abstract

Von Hippel-Lindau (VHL) disease is an inherited syndrome manifested as a benign and malignant tumor. It is an autosomal dominant syndrome diagnosed approximately in 1 in 36,000 people. We report a case where male siblings presented with the involvement of bilateral kidneys and the multi-cystic lesion on the pancreas in both. Reverse transcription polymerase chain reaction (RT-PCR) was conducted to detect the VHL gene, which turned out to be a significant finding in our study. The rare involvement of both pancreas and kidneys was noted in the siblings with VHL in the present study. In patients with VHL-associated tumour presentations, the most frequent detection of pathogenic variants in the VHL gene is the result of directed genetic testing or inherited cancer gene panels. The presence of renal and pancreatic involvement is rare but a significant finding present within the family member who needs to be screened.