title: Bulbar dysfunction and aspiration pneumonia due to a brainstem haemangioblastoma: an unusual complication of von Hippel-Lindau disease.
abstract: A 44-year-old woman with a history of von Hippel-Lindau (VHL) disease, a rare inherited neoplasia syndrome, presented acutely to hospital with a productive cough, symptoms of respiratory tract infection and odynophagia (painful swallowing). A chest X-ray confirmed right-sided pneumonia. Investigation of the persistent odynophagia using barium swallow revealed aspiration of the contrast into the lungs and suggested a neurological cause for her chest infection. Clinical assessment and speech and language therapy confirmed a pseudobulbar palsy. Subsequent neuroimaging identified a cystic haemangioblastoma, located at the cervicomedullary junction of the brainstem, as the cause of the pseudobulbar palsy. Urgent neurosurgical excision produced symptomatic relief and with continuing medical therapy, and clinical resolution of her pneumonia. In patients with VHL disease and other inherited cancer syndromes, a high index of suspicion should be maintained for new tumours presenting with common medical symptoms and signs.
authors.affiliation: Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK.
authors.forename: Christos
authors.initials: C
authors.lastname: Panayi
authors.affiliation: Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
authors.forename: Nagui
authors.initials: N
authors.lastname: Antoun
authors.affiliation: Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Sandford
mesh_terms: D000328:Adult; D020295:Brain Stem Neoplasms / Q000150:complications* / Q000175:diagnosis; D010244:Bulbar Palsy, Progressive / Q000209:etiology*; D003680:Deglutition Disorders / Q000209:etiology; D005260:Female; D018325:Hemangioblastoma / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging; D011015:Pneumonia, Aspiration / Q000175:diagnosis / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D006623:von Hippel-Lindau Disease / Q000150:complications*