Audiologic results of a child with BVVL syndrome

YILMAZ, Oğuz; Gündoğdu, Oğulcan; Tunç, Ayberk Aydın; CAKIR, MUSTAFA

doi:10.5455/annalsmedres.2023.07.162

Audiologic results of a child with BVVL syndrome

Oguz YILMAZ, (İstanbul Medipol Üniversitesi, Sağlık Bilimleri Fakültesi, Odyoloji Bölümü, İstanbul, Türkiye)

Ogulcan GÜNDOĞDU, (İstanbul Üniversitesi-Cerrahpaşa, Sağlık Bilimleri Fakültesi, Odyoloji Bölümü, İstanbul, Türkiye)

Ayberk Aydin TUNÇ, (İstanbul Medipol Üniversitesi, Sağlık Bilimleri Fakültesi, Odyoloji Bölümü, İstanbul, Türkiye)

Mustafa CAKIR (Medipol Mega Üniversite Hastanesi, Kulak-Burun-Boğaz Kliniği, İstanbul, Türkiye)

Annals of Medical Research

12 0

Yıl: 2023 Cilt: 30 Sayı: 8 Sayfa Aralığı: 976 - 978 Metin Dili: İngilizce DOI: 10.5455/annalsmedres.2023.07.162 İndeks Tarihi: 01-11-2023

Audiologic results of a child with BVVL syndrome

Öz:

Brown-Vialetto-Van Laere (BVVL) syndrome is an autosomal-recessive inherited disease, which has mutations in specific genes responsible for the transportation of riboflavin in the intestines. Fifty-eight cases of BVVL have been reported in just over a century. This rare syndrome is generally characterized by motor, sensory, and cranial nerve neuropathy. Although this syndrome manifests with bulbar palsy, sensorineural hearing loss is the second most common consistent manifestation of BVVL syndrome. While auditory neuropathy spectrum disorder (ANSD) often awaits due to the nature of the disease here, we present the results of cochlear hearing loss patient with BVVL syndrome. Timely recognition and proper management of BVVLS are crucial to offer necessary support and interventions for affected individuals because of the progressive nature of hearing loss.

Anahtar Kelime: Brown-Vialetto-Van Laere syndrome Sensorineural hearing loss Auditory brainstem response Congenital hearing loss

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	YILMAZ O, Gündoğdu O, Tunç A, CAKIR M (2023). Audiologic results of a child with BVVL syndrome. , 976 - 978. 10.5455/annalsmedres.2023.07.162
Chicago	YILMAZ Oğuz,Gündoğdu Oğulcan,Tunç Ayberk Aydın,CAKIR MUSTAFA Audiologic results of a child with BVVL syndrome. (2023): 976 - 978. 10.5455/annalsmedres.2023.07.162
MLA	YILMAZ Oğuz,Gündoğdu Oğulcan,Tunç Ayberk Aydın,CAKIR MUSTAFA Audiologic results of a child with BVVL syndrome. , 2023, ss.976 - 978. 10.5455/annalsmedres.2023.07.162
AMA	YILMAZ O,Gündoğdu O,Tunç A,CAKIR M Audiologic results of a child with BVVL syndrome. . 2023; 976 - 978. 10.5455/annalsmedres.2023.07.162
Vancouver	YILMAZ O,Gündoğdu O,Tunç A,CAKIR M Audiologic results of a child with BVVL syndrome. . 2023; 976 - 978. 10.5455/annalsmedres.2023.07.162
IEEE	YILMAZ O,Gündoğdu O,Tunç A,CAKIR M "Audiologic results of a child with BVVL syndrome." , ss.976 - 978, 2023. 10.5455/annalsmedres.2023.07.162
ISNAD	YILMAZ, Oğuz vd. "Audiologic results of a child with BVVL syndrome". (2023), 976-978. https://doi.org/10.5455/annalsmedres.2023.07.162

APA	YILMAZ O, Gündoğdu O, Tunç A, CAKIR M (2023). Audiologic results of a child with BVVL syndrome. Annals of Medical Research, 30(8), 976 - 978. 10.5455/annalsmedres.2023.07.162
Chicago	YILMAZ Oğuz,Gündoğdu Oğulcan,Tunç Ayberk Aydın,CAKIR MUSTAFA Audiologic results of a child with BVVL syndrome. Annals of Medical Research 30, no.8 (2023): 976 - 978. 10.5455/annalsmedres.2023.07.162
MLA	YILMAZ Oğuz,Gündoğdu Oğulcan,Tunç Ayberk Aydın,CAKIR MUSTAFA Audiologic results of a child with BVVL syndrome. Annals of Medical Research, vol.30, no.8, 2023, ss.976 - 978. 10.5455/annalsmedres.2023.07.162
AMA	YILMAZ O,Gündoğdu O,Tunç A,CAKIR M Audiologic results of a child with BVVL syndrome. Annals of Medical Research. 2023; 30(8): 976 - 978. 10.5455/annalsmedres.2023.07.162
Vancouver	YILMAZ O,Gündoğdu O,Tunç A,CAKIR M Audiologic results of a child with BVVL syndrome. Annals of Medical Research. 2023; 30(8): 976 - 978. 10.5455/annalsmedres.2023.07.162
IEEE	YILMAZ O,Gündoğdu O,Tunç A,CAKIR M "Audiologic results of a child with BVVL syndrome." Annals of Medical Research, 30, ss.976 - 978, 2023. 10.5455/annalsmedres.2023.07.162
ISNAD	YILMAZ, Oğuz vd. "Audiologic results of a child with BVVL syndrome". Annals of Medical Research 30/8 (2023), 976-978. https://doi.org/10.5455/annalsmedres.2023.07.162