Connecting the Dots: Multiple Hemangioblastomas and Pheochromocytoma Revealing the Diagnosis of Von Hippel Lindau Disease

Abstract

Von Hippel–Lindau (VHL) disease is an autosomal dominant hereditary tumor predisposition syndrome caused by pathogenic variants in the VHL gene located on chromosome 3p25.3. It is characterized by the development of multiple benign and malignant neoplasms and cystic lesions involving various organs, with most manifestations presenting in early to middle adulthood. We report the case of a young female who initially presented with back pain and was found to have a spinal hemangioblastoma. A concomitant adrenal mass identified incidentally on lumbosacral MRI raised suspicion of an underlying hereditary syndrome. Subsequent brain MRI demonstrated a fourth ventricular hemangioblastoma. The constellation of multisystem lesions prompted germline genetic testing, which confirmed a pathogenic VHL gene variant, establishing the diagnosis of VHL disease. The coexistence of CNS, spinal, adrenal, renal, or other characteristic tumors should raise suspicion for VHL syndrome. Diagnosis is established through a combination of clinical evaluation, multimodal imaging, and genetic testing, despite considerable phenotypic heterogeneity.