Objectives: To illustrate the diagnostic and pathophysiologic issues of endolymphatic sac tumors (ELSTs) and its clinical association with von Hippel-Lindau (VHL) disease and to demonstrate the interest of genetic testing in such cases.
Study design: Retrospective analysis of 3 cases of ELST with VHL in 3 different clinical and prognostic situations.
Main outcomes: The first case was diagnosed on the concomitant finding of a central nervous system lesion. The familial genetic testing revealed the presence of the VHL mutation in an asymptomatic daughter, which justified regular follow-up. In the second case of known VHL syndromic disease, the pathophysiologic role of the endolymphatic sac was questioned, with vertigo as the initial, unique symptom of ELST. In the third case, a giant hypervascularized ELST, initially diagnosed as jugular paraganglioma, was the unique manifestation of VHL disease. The young age of the patient could explain the absence of other tumors.
Conclusion: Diagnosis of ELSTs may be difficult especially when the original site of the lesion cannot be clearly identified. Such tumors may be revealed or may develop with VHL disease. On presentation of a lytic, vascularized tumor of the posterior face of the petrous bone, clinicians should systematically search for other manifestations of VHL disease and propose a VHL genetic testing for patients, and relatives in case of a positive test, to detect early asymptomatic other tumors. The type of VHL mutation might predict the aggressiveness.