ONS Advance Access: Functional Outcome After Resection of Von Hippel-Lindau Disease-Associated Cauda Equina Hemangioblastomas: An Observational Cohort Study

von Hippel-Lindau (VHL) disease is a tumor suppressor gene syndrome characterized by mutations in the VHL gene that result in central nervous system (CNS) and systemic tumors. VHL patients are predisposed to the development of multiple hemangioblastomas of the cerebellum, brainstem, and spinal cord that can give rise to neurological sequelae. Hemangioblastomas may also arise from spinal nerve roots, including the cauda equina. Although cauda equina hemangioblastomas are present in the majority of patients with VHL (62%), few patients (2%) develop symptoms related to a cauda equina hemangioblastoma.1 This may be due to greater space for growth within the lumbar cistern, as well as a diminished likelihood of tumor-associated cyst development, which is the most common cause of hemangioblastoma-associated symptoms in other CNS regions.1,2

When symptomatic, cauda equina hemangioblastomas can be challenging lesions to resect. Previous studies have suggested that cauda equina hemangioblastomas often involve sensory nerve roots.3,4 Nevertheless, involvement of motor nerve roots is possible and can increase the morbidity of complete surgical resection. Consequently, it is critical to understand the anatomical origin (motor and/or sensory nerve roots) of cauda equina hemangioblastomas and the long-term outcomes of resection. To date, only case reports and small series (6 or less patients, including sporadic cases) have been reported.3-11 To define optimal management strategies and the outcome of resection of cauda equina hemangioblastomas in VHL, we analyzed the short- and long-term functional outcomes in patients who underwent surgical treatment.

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