✓ The authors describe a case of von Hippel-Lindau syndrome diagnosed at autopsy in a 49-year-old woman. She died suddenly following hemorrhage from a cerebellar hemangioblastoma. Other autopsy findings included a retinal hemangioblastoma, an adrenal pheochromocytoma, and a clear-cell renal tumor. The case was distinguished by the unexpected finding of multiple microscopic hemangioblastomas of the spinal nerve roots. The case is discussed with emphasis on the incidence of spinal hemangioblastomas in von Hippel-Lindau syndrome.
A 71-year-old Caucasian man presented with an isolated juxtapapillary retinal capillary haemangioblastoma on the superior and temporal left optic disc with active exudation resulting in macular intraretinal and subretinal fluid, reduced vision, scotoma and distortion with progression over 6 weeks. He did not have von Hippel-Lindau syndrome. After proton beam radiotherapy (PBR), the tumour size remained unchanged, but did not stop the exudation. Three anti-vascular endothelial growth factor (VEGF) (ie, bevacizumab) injections at monthly intervals resulted in reduced macular oedema. Combined therapy with PBR and anti-VEGF injections sustained our patient’s vision at 12 months follow-up.
Iatrogenic ureteric stricture post image guided renal cryoablation in a patient with von hippel-lindau syndrome