دورية أكاديمية
Enlarged vestibular aqueduct as a cause of postneonatal deafness.
| العنوان: | Enlarged vestibular aqueduct as a cause of postneonatal deafness. |
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| المؤلفون: | Fernández-Cedrón C; Servicio de Otorrinolaringología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Sánchez-Fernández P; Servicio de Otorrinolaringología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Guntín-García M; Instituto de Atención Temprana y Seguimiento, Fundación Padre Vinjoy, Oviedo, Asturias, Spain., Sandoval-Menéndez I; Servicio de Rehabilitación, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Gómez-Martínez J; Servicio de Otorrinolaringología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Llorente-Pendás JL; Servicio de Otorrinolaringología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Núñez-Batalla F; Servicio de Otorrinolaringología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain. Electronic address: fjnunezb@gmail.com. |
| المصدر: | Acta otorrinolaringologica espanola [Acta Otorrinolaringol Esp (Engl Ed)] 2024 May-Jun; Vol. 75 (3), pp. 177-184. Date of Electronic Publication: 2024 Feb 09. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier España Country of Publication: Spain NLM ID: 101770938 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2173-5735 (Electronic) Linking ISSN: 21735735 NLM ISO Abbreviation: Acta Otorrinolaringol Esp (Engl Ed) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Madrid : Elsevier España |
| مواضيع طبية MeSH: | Vestibular Aqueduct*/abnormalities , Vestibular Aqueduct*/diagnostic imaging , Hearing Loss, Sensorineural*/genetics , Hearing Loss, Sensorineural*/etiology, Humans ; Male ; Female ; Retrospective Studies ; Infant ; Child, Preschool ; Child ; Sulfate Transporters/genetics ; Deafness/genetics ; Deafness/etiology ; Adolescent ; Mutation |
| مستخلص: | Introduction: The enlarged vestibular aqueduct (EVA) is the most frequent malformation of the inner ear associated with sensorineural hearing loss (5-15%). It exists when the diameter in imaging tests is greater than 1.5 mm at its midpoint. The association between hearing loss and EVA has been described in a syndromic and non-syndromic manner. It can appear as a familial or isolated form and the audiological profile is highly variable. The gene responsible for sensorineural hearing loss associated with EVA is located in the same region described for Pendred syndrome, where the SCL26A4 gene is located. Objective: To describe a series of children diagnosed with EVA in order to study their clinical and audiological characteristics, as well as the associated genetic and vestibular alterations. Method: Retrospective study of data collection of children diagnosed with EVA, from April 2014 to February 2023. Results: Of the 17 cases, 12 were male and 5 were female. 5 of them were unilateral and 12 bilateral. In 5 cases, a cranial traumatism triggered the hearing loss. Genetic alterations were detected in 3 cases: 2 mutations in the SCL26A4 gene and 1 mutation in the MCT1 gene. 13 patients (76.5%) were rehabilitated with hearing aids and 9 of them required cochlear implantation. Discussion: The clinical importance of AVD lies in the fact that it is a frequent finding in the context of postneonatal hearing loss. It is convenient to have a high suspicion to diagnose it with imaging tests, to monitor its evolution, and to rehabilitate early. (Copyright © 2023 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Published by Elsevier España, S.L.U. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Acueducto vestibular dilatado; Enlarged vestibular aqueduct; Hearing loss; Hipoacusia; Inner ear malformation; Malformación de Mondini; Malformación del oído interno; Mondini malformation; Pendred syndrome; Síndrome de Pendred |
| المشرفين على المادة: | 0 (Sulfate Transporters) 0 (SLC26A4 protein, human) |
| تواريخ الأحداث: | Date Created: 20240211 Date Completed: 20240526 Latest Revision: 20240526 |
| رمز التحديث: | 20240527 |
| DOI: | 10.1016/j.otoeng.2023.10.004 |
| PMID: | 38342426 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2173-5735 |
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| DOI: | 10.1016/j.otoeng.2023.10.004 |