Von Hippel-Lindau syndrome presenting as a lateral ventricular space-occupying lesion: a case report

Von Hippel-Lindau disease is a rare autosomal dominant genetic disorder caused by mutations in the VHL tumor suppressor gene located on chromosome 3. Its core feature is the development of vascular-rich tumors or cysts in multiple organ systems at different ages, mainly manifesting as cerebellar hemangioblastoma, retinal hemangioblastoma, renal cell carcinoma and/or multiple renal cysts, and adrenal pheochromocytoma, among others. The disease is rare and involves multiple systems, making diagnosis challenging. Genetic testing has gradually become the gold standard for its diagnosis. This case report describes a 54-year-old male patient who presented with an intracranial space-occupying lesion detected during a health check-up three years earlier, as well as headache, dizziness, and decreased vision for more than four months. Imaging and pathological examinations ultimately confirmed a diagnosis of VHL syndrome, complicated by a rare "collision tumor" composed of an intracranial (lateral ventricular) hemangioblastoma and metastatic clear cell renal cell carcinoma. After resection of the lateral ventricular tumor, the patient developed extensive intracranial hemorrhage and fatal brainstem hemorrhage due to the inherently high vascularity of the hemangioblastoma, and eventually died. Through this complex and high-risk case, we discuss the diagnostic difficulties of VHL syndrome, the surgical risks of central nervous system lesions, and multidisciplinary management strategies, aiming to provide practical guidance for clinical practice.