Katarzyna PASTERNAK-PIETRZAK, Agata KOZ?OWSKA, El?bieta MOSZCZY?SKA
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(Suppl 1):12-19
Von Hippel-Lindau disease (vHL) is a hereditary, autosomal dominant syndrome manifested by a predisposition to the occurrence of benign and malignant neoplasms. The spectrum of vHL-related neoplasms includes: pheochromocytoma (PHEO), central nervous system and retinal hemangioblastomas, renal clear cell carcinoma, epididymal cystadenomas, and pancreatic neuroendocrine tumors, as well as visceral, especially renal and pancreatic, cysts. We report a single family including five patients with genetically confirmed vHL in which every member had PHEO diagnosed during pediatric care. The presented family had a missense variant in the VHL gene (exon 1, g.A451G, p.S80G) which has been connected with an increased risk of PHEO. Performing screening laboratory and imaging tests in patients with genetically confirmed vHL may help to avoid the occurrence of disease symptoms and to perform elective surgery under safe conditions. Due to the risk of coexisting pathologies and the complexity of the disease, patients with vHL require long-term care.
