Open AccessVestibular Function in Children With Von Hippel–Lindau Disease
Author(s) -
Nesrettin Fatih Turgut,
Rosa Crunkhorn,
Javed Iqbal,
Soumit Dasgupta
Publication year - 2021
Publication title -
the journal of international advanced otology/the journal of international advanced otology
Language(s) - English
Resource type - Journals
eISSN - 2148-3817
pISSN - 1308-7649
DOI - 10.5152/iao.2021.0190
Subject(s) - medicine , vestibular system , vestibular evoked myogenic potential , von hippel–lindau disease , meniere's disease , endolymphatic hydrops , audiology , disease , pathology
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.