Vestibular function in children with von hippel–lindau disease
Journal of International Advanced Otology, cilt.17, sa.4, ss.361-367, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 17 Sayı: 4
- Basım Tarihi: 2021
- Doi Numarası: 10.5152/iao.2021.0190
- Dergi Adı: Journal of International Advanced Otology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
- Sayfa Sayıları: ss.361-367
- Anahtar Kelimeler: Von Hippel-Lindau disease, endolymphatic sac tumors, vestibular function, video head impulse test, suppression head impulse test, vestibular evoked myogenic potential test
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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 audio-logical 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.