Extensive replacement of spinal cord and brainstem by hemangioblastoma in a case of von Hippel-Lindau disease

We report an extremely unusual case of von Hippel-Lindau disease, characterized by almost total replacement of the spinal cord and most of the medulla by capillary hemangioblastoma (CHB). A 34-year-old female presented 20 years earlier with signs of lower limb weakness. She developed progressive quadriplegia despite multiple surgical attempts to remove separate CHBs from the midthoracic and cervical spinal cord. Spinal cord lesions continued to develop as did multiple cerebellar CHBs. She eventually became respirator-dependent and died following severe upper gastrointestinal hemorrhage. At autopsy there was extensive replacement of spinal cord and medulla by CHB as well as multiple solid and cystic cerebellar tumors. Both kidneys were enlarged and largely replaced by renal cell carcinomas and simple cysts. Additionally she had small pancreatic cysts and microscopic pulmonary hamartomas were observed. There was no evidence of retinal lesions clinically or at autopsy. Light microscopic and immunohistochemical studies of the lesions are presented. The early onset of this disease in a female, with such extensive spinal cord involvement, in addition to other CNS and visceral manifestations of von Hippel-Lindau disease, is unusual and has not been previously reported.