Abstracts

Rationale: Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disorder associated with a germline mutation of the VHL tumor suppressor gene, leading to the development of benign and malignant tumors involving the neuraxis and viscera. This case demonstrates a rare presentation of seizures in a patient with VHL syndrome and a supratentorial hemangioblastoma. Methods: Case report and literature review Results: A 27 year-old man was diagnosed with VHL syndrome in 2007 when he presented with headaches and ataxia. MRI of the brain revealed multiple hemangioblastomas involving the cerebellum, spinal cord, and left mesial temporal lobe. He additionally had a right retinal hemangioblastoma treated with laser ablation in 2015. The diagnosis was confirmed by genetic testing. He reported intermittent musical hallucinations starting in 2014, described as a familiar but unrecognizable, lyric-less song lasting for 30 seconds. The musical hallucinations occurred irregularly, approximately once every 1-2 months. During these episodes he reported subjective difficulty with expressive language. He had his first and only generalized tonic-clonic seizure in 2016. Subsequent EEG was abnormal demonstrating occasional left temporal polymorphic slowing, rarely sharply contoured. The patient was treated with levetiracetam, which was later changed to valproic acid due to side effects. Treatment with antiepileptic medication has prevented any further generalized seizures and resolved his musical hallucinations. Conclusions: In patients with VHL hemangioblastomas are most frequently seen in the posterior fossa or spinal cord and therefore rarely epileptogenic. However, a minority of patients with VHL develop supratentorial hemangioblastomas. In a cohort of 409 patients with VHL, only 13 (3.2%) patients were found to have supratentorial hemangioblastomas; of these only two patients experienced seizures. (Peyre et al. Natural History of Supratentorial Hemangioblastomas in von Hippel-Lindau Disease. Neurosurgery, 2010, 67, 577-587). The temporal lobes are considered a common site for supratentorial hemangioblastomas and have also been associated with auditory auras, including musical hallucinations. To our knowledge this is the first case to report auditory partial seizures in a patient with VHL syndrome and a supratentorial hemangioblastoma. Funding: N/A