Multifocal Spinal Hemangioblastoma in von Hippel-Lindau Syndrome: A Case Report and Literature Review

Hemangioblastoma is a benign vascular neoplasm of the central nervous system. Although hemangioblastoma is the most common primary neoplasm in the adult cerebellum, it is a relatively rare vascular tumor of the spine, representing 1.6–5.8% of all spinal tumors (1). Spinal hemangioblastoma may occur sporadically or as a component of von Hippel-Lindau (VHL) syndrome. VHL syndrome is an autosomal dominant disorder, and it is caused by germline mutations of the VHL tumor supressor gene located on the distal part of the short arm of the third chromosome (3p25-26) (2). The prevalence of VHL syndrome ranges from 1:40000 to 1:50000 (3). VHL syndrome manifests as central nervous system hemangioblastomas, renal cysts, and renal cell carcinomas. Other lesions include retinal angiomas, pheochromocytomas, pancreatic cysts, and epididymal cystadenomas (4). Patients with VHL syndrome-associated spinal hemangioblastomas tend to present with neurological symptoms and signs at a younger age, and have multiple small lesions (57). When VHL syndrome-associated spinal hemangioblastomas are represented by multiple, tiny to small lesions, they can mimic other spinal tumors or disease including metastasis. It is important to know the clinical and imaging characteristics of VHL syndrome-associated spinal hemangioblastomas for appropriate image interpretation and management of the patient. The author reports a relatively rare case of VHL syndrome-associated spinal hemangioblastomas represented by multiple small lesions, with an emphasis on the magnetic resonance imaging (MRI) findings and discussion of the clinical characteristics of VHL syndrome-associated spinal hemangioblastomas.