Endolymphatic Sac Tumors in von Hippel-Lindau Disease

Abstract

JAMA Mechanisms of Morbid Hearing Loss Associated With Tumors of the Endolymphatic Sac in von Hippel-Lindau Disease John A. Butman, MD, PhD; H. Jeffrey Kim, MD; Martin Baggenstos, MD; Joshua M. Ammerman, MD; James Dambrosia, PhD; Athos Patsalides, MD; Nicholas J. Patronas, MD; Edward H. Oldfield, MD; Russell R. Lonser, MD Context: Endolymphatic sac tumors (ELSTs) are associated with von Hippel-Lindau disease and cause irreversible sensorineural hearing loss (SNHL) and vestibulopathy. The underlying mechanisms of audiovestibular morbidity remain unclear, and optimal timing of treatment is not known. Objective: To define the underlying audiovestibular pathophysiologic mechanisms associated with ELSTs. Design, Setting, and Patients: Prospective and serial evaluation of patients with von Hippel-Lindau disease and ELSTs at the National Institutes of Health between May 1990 and December 2006. Main Outcome Measures: Clinical findings and audiologic data were correlated with serial magnetic resonance imaging and computed tomographic imaging studies to determine the mechanisms underlying audiovestibular dysfunction. Results: Thirty-five patients with von Hippel-Lindau disease and ELSTs in 38 ears (3 bilateral ELSTs) were identified. Tumor invasion of the otic capsule was associated with larger tumors ( P = .01) and occurred in 7 ears (18%) causing SNHL (100%). No evidence of otic capsule invasion was present in the remaining 31 ears (82%). Sensorineural hearing loss developed in 27 of these 31 ears (87%) either suddenly (14 ears [52%]) or gradually (13 ears [48%]), and 4 ears had normal hearing. Intralabyrinthine hemorrhage was found in 11 of 14 ears with sudden SNHL (79%; P P = .23) or vestibulopathy ( P = .83). Conclusions: Vestibulopathy and ELST-associated SNHL may occur suddenly due to tumor-associated intralabyrinthine hemorrhage or insidiously, consistent with endolymphatic hydrops. Both of these pathophysiologic mechanisms occur with small tumors that are not associated with otic capsule invasion.