{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T07:24:20Z","timestamp":1759389860065,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,9,29]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2016-217076","type":"journal-article","created":{"date-parts":[[2016,10,13]],"date-time":"2016-10-13T11:48:29Z","timestamp":1476359309000},"page":"bcr2016217076","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Bulbar dysfunction and aspiration pneumonia due to a brainstem haemangioblastoma: an unusual complication of von Hippel-Lindau disease"],"prefix":"10.1136","volume":"2016","author":[{"given":"Christos","family":"Panayi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagui","family":"Antoun","sequence":"additional","affiliation":[{"name":"Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Sandford","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Cambridge School of Clinical Medicine, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,10,13]]},"reference":[{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.175"},{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.2","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3171\/2010.9.JNS10839","article-title":"Long-term outcome after resection of brainstem hemangioblastomas in von Hippel-Lindau disease","volume":"114","author":"Wind","year":"2011","journal-title":"J Neurosurg"},{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.3","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2015.65.6140"},{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.4","first-page":"456","article-title":"[Combined medullary hemangioblastoma and syringomyelia in a patient with von Hippel-Lindau disease: pathological study]","volume":"144","author":"Pou Serradell","year":"1988","journal-title":"Rev Neurol (Paris)"},{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.5","first-page":"169","article-title":"Cerebellar hemangioblastoma presenting as secondary erythrocytosis and aspiration pneumonia","volume":"164","author":"Farrukh","year":"1996","journal-title":"West J Med"},{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.6","doi-asserted-by":"publisher","DOI":"10.2174\/1566524043359827"},{"key":"2025082803513432000_2016.oct13_1.bcr2016217076.7","doi-asserted-by":"crossref","unstructured":"Binderup ML , Jensen AM , Budtz-J\u00f8rgensen E , et al . Survival and causes of death in patients with von Hippel-Lindau disease. 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