Leptomeningeal hemangioblastomatosis in a case of von Hippel-Lindau disease: case report.Neurosurgery. 2003 May; 52(5):1212-5; discussion 1215-6.N
OBJECTIVE AND IMPORTANCE
We report a unique case of extended leptomeningeal hemangioblastomatosis in a patient presenting with clinical von Hippel-Lindau disease.
A 50-year-old male patient had a history of three surgical procedures for the removal of a cerebellar hemangioblastoma, initially considered to be a recurrence of a sporadic form at the same location. Seven years after the last operation, he developed chronic hydrocephalus. Despite a ventriculoperitoneal shunt procedure, he experienced progressive worsening of gait disturbances, associated with touch numbness of the lower limbs and Parinaud's syndrome. Magnetic resonance imaging of the brain and spine showed evidence of leptomeningeal contrast enhancement around the brainstem, spinal cord, and cauda equina and enlarged tortuous vessels around the mesencephalon.
A lumbar laminectomy allowed a leptomeningeal biopsy. Pathological examination revealed leptomeningeal spread of the hemangioblastoma. It is assumed that the tumor arose in the pia mater and that its direction of growth was purely extramedullary, invading all subarachnoid spaces. The patient had a poor outcome as a result of progressive tetraplegia and died 6 months after diagnosis as a result of respiratory failure.
To the best of our knowledge, the clinical course of our patient, consistent with a thick leptomeningeal spread of hemangioblastoma from the posterior fossa to the sacrum, is unique. Nevertheless, the short life expectancy of our patient is usual in von Hippel-Lindau disease. This case report illustrates the crucial challenge to develop a specific drug therapy related to angiogenesis in von Hippel-Lindau disease.