A Case Report of Papilledema Secondary to Hemangioblastoma

Introduction Central nervous system hemangioblastomas are slow-growing vascular neoplasms representing 2% of intracranial tumors. Although benign nonmetastasizing tumors, central nervous system hemangioblastomas can cause significant neurologic disability owing to mass effect. Central nervous system hemangioblastomas most often occur in the posterior fossa and are therefore likely to cause signs and symptoms associated with increased intracranial pressure as well as both cerebellar and brainstem compression. Because they are slow growing with periods of arrested growth, symptoms of central nervous system hemangioblastomas can be ignored or attributed to other causes before a diagnosis is finally made. Case Report An 18-year-old man presented for an eye examination with a history of acid reflux, emesis, and recent difficulty swallowing with associated weight loss. Dilated examination demonstrated papilledema suggestive of increased intracranial pressure. Cursory neurologic examination revealed absent soft palate elevation, dysphagia, and tongue weakness/fasciculations indicative of medullary cranial nerve IX-XII damage. These findings, combined with cerebellar signs of ataxia, are concerning for a large posterior fossa mass encompassing the fourth ventricle with associated obstructive hydrocephalus. Conclusion An intracranial mass can cause varied systemic symptoms that initially erroneously guide the workup and subsequently delay an accurate diagnosis. Thorough history-taking combined with detailed clinical examination is key to understanding, localizing, and ultimately diagnosing a pathologic presentation such as a central nervous system hemangioblastoma. Eyecare providers need to understand the eye-brain connection, be able to perform a cursory neurologic examination to explain nonocular symptoms, and be capable of anatomically localizing neurologic lesions.