Tumor registries from four paediatric referral centers (Lucile Salter Packard Children’s Hospital, Childrens Hospital of Los Angeles, the Johns Hopkins Hospital, and Childrens Hospital of Buffalo) were screened for all patients < / = 21 years at diagnosis of a cerebellar hemangioblastoma. Peripheral blood leukocytes were sampled and partial or entire deletions of the VHL gene or gene rearrangements were detected by quantitative Southern blot analysis. Genomic DNA was amplified by PCR, and exons 1, 2, and 3 of the VHL gene directly sequenced using SSCP. One patient with no family history for VHL was found with this c.341-1G>A mutation. The patient was 16.1Y old at cerebellar hemangioblastoma diagnosis, and also presented with retinal angioma, cervical spinal hemangioblastoma, pancreatic cysts, and renal cysts.