The truth behind multiple neuroendocrine tumors: Von Hippel-Lindau syndrome and its diagnostic challenges—A case report and literature review

Von Hippel-Lindau (VHL) disease is a rare inherited tumor syndrome characterized by the development of multiple neoplasms. The broad variability in clinical manifestations makes this entity susceptible to being overlooked during clinicpathological diagnosis. A female patient in her late 20s presented with multiple adrenal masses during a routine health check-up, with associated dizziness and palpitations lasting 1 month. Laboratory studies revealed plasma-free normetanephrine level of 2894.9 pg/ml. Abdominal contrast-enhanced computed tomography showed multiple lesions consisting of bilateral adrenal masses and retroperitoneal nodules. Postoperative pathological examination demonstrated the diagnosis of bilateral adrenal pheochromocytomas, retroperitoneal paraganglioma, and pancreatic neuroendocrine tumor. Molecular genetic testing detected a pathogenic germline mutation in the <i>VHL</i> gene (c.499C > T: p.R167 W). Subsequent brain magnetic resonance imaging revealed a hypervascular cerebellar nodule. Genetic and clinical findings confirmed a definitive diagnosis of VHL syndrome type 2B. The diverse manifestations of VHL syndrome often cause diagnostic delays. Analyzing this case alongside the literature highlights the need to suspect VHL in young patients with multiple tumors, for whom genetic testing is crucial for definitive diagnosis. While a single case cannot capture the full disease spectrum, it provides valuable clinical insight.