[Endolymphatic sac tumor and von Hippel-Lindau disease. Review of the literature].

This report describes a patient with Von Hippel-Lindau disease revealed by an endolymphatic sac tumor. Endolymphatic sac tumor (EST) was only recently recognized as a manifestation of Von Hippel-Lindau (VHL) disease. EST are vascular lesions that destroy and expand bone. We report a recently treated case of an EST. A 30-year-old woman presented with otalgia and hearing loss. Computed tomography and magnetic resonance imaging showed typical features of an EST. We checked for VHL and found this disease in the patient. VHL disease is a hereditary cancer syndrome caused by germline mutations of the VHL tumor suppressor gene. A molecular diagnosis of VHL is nowadays available, and this has change the clinical management of patients and their families. Diagnosis of VHL has to be suspected in patients with a VHL-related tumor without familial history and especially in those cases of hemangioblastoma or endolymphatic sac tumors. Such patients should be systematically investigated for clinical and molecular evidence of VHL disease.