Pediatric Von Hippel-Lindau Disease: Natural History, Predictive Factors, and Long-Term Functional Outcomes of Central Nervous System Hemangioblastomas

Von Hippel-Lindau (VHL) disease is a rare hereditary cancer predisposition syndrome associated with the development of central nervous system hemangioblastomas from childhood. The natural history of these lesions in pediatric patients remains poorly characterized, particularly regarding the factors that predict progression from radiological surveillance to neurosurgical intervention. This multicenter retrospective observational study aims to identify clinical, radiological, and genetic predictors of surgical indication in children with VHL-associated CNS hemangioblastomas and to evaluate their long-term neurological and functional outcomes. The findings may contribute to optimizing surveillance strategies and improving clinical decision-making in this rare population.

Inclusion Criteria: * Age under 18 years at diagnosis of Von Hippel-Lindau disease * Presence of at least one central nervous system hemangioblastoma * Available clinical, radiological and genetic data Exclusion Criteria: * Insufficient follow-up data to assess clinical or radiological progression * Opposition from the child or his/her parents