The Journal of International
Advanced Otology
Case Report

Vestibular Function in Children With Von Hippel–Lindau Disease


Department of Otorhinolaryngology, Samsun Health Practices and Research Center, University of Health Sciences, Samsun, Turkey


Department of Paediatric Audiology and Audiovestibular Medicine, Alder Hey Children’s Hospital NHS Foundation Trust, Liverpool, United Kingdom

J Int Adv Otol 2021; 17: 361-367
DOI: 10.5152/iao.2021.0190
Read: 987 Downloads: 449 Published: 01 July 2021

Von Hippel–Lindau disease (VHL) is a rare autosomal dominant disorder. It is caused by a mutation in the tumor suppressor gene localized at 3p25-26. Endolymphatic sac tumors (ELSTs) are rare low-grade adenocarcinomas which can occur sporadically but are more commonly found in association with VHL disease. In this paper, we present 3 siblings who underwent comprehensive vestibular assessment following a genetic diagnosis of VHL, and review the literature on audiovestibular findings in VHL/ELST in children. This is the first time that newer objective vestibular function tests like the video head impulse test (vHIT), the suppression head impulse test (SHIMP), and the cervical vestibular evoked myogenic potential test (cVEMP) have been performed in children with VHL to yield meaningful information about vestibular function. Monitoring audiological function has been suggested for early detection of ELSTs. It remains to be seen whether monitoring of vestibular function in patients with VHL from an earlier age may yield valuable information about progression of the disease.

Cite this article as: Fatih Turgut N, Crunkhorn R, Iqbal J, Dasgupta S. Vestibular function in children with Von Hippel–Lindau disease. J Int Adv Otol. 2021; 17(4): 361-367.

EISSN 2148-3817