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.
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
Insufficient follow-up data to assess clinical or radiological progression
Opposition from the child or his/her parents
Pediatric patients diagnosed with Von Hippel-Lindau disease before the age of 18 years and presenting with at least one central nervous system hemangioblastoma
Cohort
Retrospective
Not listed
Transition from radiological surveillance to neurosurgical intervention for a CNS hemangioblastoma.
Occurrence of a neurosurgical procedure performed for a previously monitored central nervous system hemangioblastoma, regardless of the indication (radiological progression, symptom development, neurological deficit, cyst formation, syringomyelia, hydrocephalus, hemorrhage, or other documented clinical reasons).
Association between timing of surgery and neurological outcome
Evaluation of whether neurosurgical intervention performed before the occurrence of severe neurological deficit, hemorrhage, or hydrocephalus is associated with a better neurological outcome at last follow-up.
Number of neurosurgical interventions
Total number of neurosurgical procedures performed for CNS hemangioblastomas during follow-up.
Chronic neurological deficit
Occurrence or persistence of chronic neurological deficits during follow-up, including motor, sensory, cerebellar, cranial nerve, or sphincter deficits. Time Frame: From diagnosis to last available follow-up.
Number of high-risk patient subgroups identified
Number of high-risk patient subgroups identified according to clinical, radiological, and genetic characteristics.
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