Of 31 Brazilian patients, one was found to harbour the c.540delC (p.I180Mfs*22) mutation of the VHL gene. Genomic DNA was extracted and all VHL coding regions were analyzed by Sanger sequencing. MLPA was performed to investigate large deletions using SALSA® MLPA® P016 VHL probe mix. Data analysis was performed with Genescan 3.7. This patient, age 14, presented with CNS and retinal hemangioblastoma. It is not clear if this mutation is familial.