Von Hippel-Lindau Disease (VHL): A Rare Radiological Case Report

Von Hippel-Lindau Disease

Abstract

Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome caused by mutation in the VHL tumor suppression gene located on chromosome 3. The presented case was a 13 years male patient who initially presented to our hospital with chief complaints of Weakness in  b/l lower limbs, Low backache, Right-sided flank pain. On Physical examination there was a lump in right lumbar region which was firm on palpation. On imaging and histopathology examination the patient was found to have multiple simple pancreatic cysts, malignant renal lesion, retialangioma and spinal hemangioblastoma. So a diagnosis of VHL was made. Regular follow-up with imaging (ultrasound, CT, MRI) are necessary to follow the previous lesions and detect any newly-developed VHL-associate tumors. The Importance of screening is emphasized because the lesions in VHL disease are treatable.