Von Hippel-Lindau Syndrome Case Summary

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Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas involving the brain, spinal cord and cystic lesions of intra-abdominal organs such as the liver, kidney and pancreas.1 To our knowledge there have been no reports of these lesions involving the airway. Presence of cystic lesions in the airway could result in an unanticipated difficult airway. Inadvertent injury to a vascular epiglottic cyst resulting in airway bleeding is a dreaded complication that makes a difficult airway even more difficult to secure. CASE REPORT Our patient, a 43 years old gentleman, a diagnosed case of VHL syndrome, presented with headache, giddiness and gait unsteadiness. He was previously operated upon twice for cerebellar hemangioblastomas. Clinical examination and imaging revealed recurrence of the cerebellar hemangioblastoma requiring excision. Ultrasound of the abdomen revealed multiple cysts in pancreas and kidneys. Biochemical investigations were negative for pheochromocytoma. Airway assessment revealed adequate mouth opening, modified Mallampati score of 2 and restricted neck extension. In operating room, under standard monitoring, patient was induced with Propofol and Fentanyl. Intubation was attempted after…show more content…
The pathogenesis of VHL syndrome involves mutation in VHL gene located in the short arm of chromosome 3 which encodes a messenger RNA.1 This eventually leads to abnormalities in protein complexes involved in regulation of senescence, oxygen-sensing pathway, microtubule stability and orientation, cilia formation, assembly of collagen (type IV) and fibronectin in extracellular matrix and in tumor suppression. Although not described previously, the pathology can theoretically involve airway mucosa as it also contains epithelial cells, cilia, type IV collagen and

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