A Von Hippel-Lindau Case Associated with Pheochromocytoma and Multiple Pancreatic Tumors

Abstract

A 31-year-old woman came to our hospital because of leg numbness. MRI showed multiple cystic or solid tumors in the medulla oblongata and spinal cord. CT showed well contrast-enhanced tumors in the right adrenal grand, retroperitoneum, and pancreas. Because laboratory examination revealed elevated urine normetanephrine, we diagnosed this case as von Hippel-Lindau (VHL) disease with pheochromocytoma. Resections of the right adrenal grand and retroperitoneal tumor were performed. These tumor were histopathologically diagnosed pheochromocytoma and paraganglioma, respectively. Further, medullary tumorectomy and fenestration of syringobulbia were performed for cerebral edema thirty-six days after the operation. The seven pancreatic tumors were clinically diagnosed as non-functional neuroendocrine tumors, and have been followed up for 5 years. The VHL disease is a multiple tumor syndrome caused by the autosomal dominant VHL gene. Although genetic tests were not performed, we established a diagnosis of this case as type 2B VHL disease, because his father had kidney cancer. Patients with VHL disease frequently have systemic multiple lesions, it is important for surgeons to consider their life support and quality of life.