ABSTRACT
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 1.5â¯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.
Subject(s)
Hearing Loss, Sensorineural , Vestibular Aqueduct , Humans , Vestibular Aqueduct/abnormalities , Vestibular Aqueduct/diagnostic imaging , Male , Female , Retrospective Studies , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/etiology , Infant , Child, Preschool , Child , Sulfate Transporters/genetics , Deafness/genetics , Deafness/etiology , Adolescent , MutationABSTRACT
OBJECTIVE: To present a report on the incidence and management protocol of cerebrospinal fluid gusher in cochlear implantation in the national institute of respiratory diseases. METHOD: We conducted a clinical, longitudinal, retrospective investigation of all the medical charts from implanted patients between October 1999 and December 2016 in the national institute of respiratory diseases to evaluate the incidence of gusher, management protocol and evolution after surgery. Statistical analysis was conducted using Fishers test to find out if there was a relationship between the number of inner ear malformations and gusher severity and between the surgical access to the inner ear (cochleostomy or round window) and gusher severity. RESULTS: 276 patients were evaluated, 12 (4.3%) presented gusher during cochlear implantation. Seven had minimal gusher that stopped completely with a fascia seal, three had moderate gusher that required fascia and cartilage and two had severe gusher that required middle ear packing and obliteration of the eustachian tube. There was no statistically significant relationship between the number of inner ear malformations or the surgical access to the inner ear with gusher severity. CONCLUSIONS: A thorough evaluation of the imaging study should always be conducted, it should include specific measurements and an individualized management in accordance with gusher severity should always be performed.
OBJETIVO: Presentar un reporte de la incidencia y del protocolo de manejo del gusher del líquido cefalorraquídeo durante la implantación coclear en el Instituto Nacional de Enfermedades Respiratorias. MÉTODO: Se realizó una investigación clínica, longitudinal y retrospectiva de los expedientes clínicos de todos los pacientes con implantación coclear entre octubre de 1999 y diciembre de 2016, para valorar la incidencia de Gusher, el protocolo de manejo y la evolución posterior. Se realizó el análisis estadístico utilizando la prueba exacta de Fisher para buscar si había relación entre el número de malformaciones de oído interno y el grado de Gusher, y entre la vía de abordaje al oído interno (cocleostomía o ventana redonda) y el grado de Gusher. RESULTADOS: Se valoraron 276 pacientes, de los cuales 12 (4.3%) presentaron Gusher durante la implantación coclear. De estos, siete fueron Gusher mínimo y cedió totalmente con el sellado con fascia, tres fueron Gusher moderado que ameritó el sellado con fascia y cartílago, y dos fueron Gusher grave que ameritó empaquetamiento de oído medio y obliteración de la trompa de Eustaquio. No se encontró una relación estadísticamente significativa entre el número de malformaciones del oído interno o la vía de abordaje al oído interno con el grado de Gusher. CONCLUSIONES: Debe realizarse una minuciosa evaluación del estudio de imagen prequirúrgico, que incluya la toma de mediciones específicas, y brindar un manejo individualizado según la gravedad del Gusher.
Subject(s)
Cerebrospinal Fluid , Cochlear Implantation , Postoperative Complications/epidemiology , Postoperative Complications/therapy , Child , Child, Preschool , Female , Humans , Incidence , Infant , Longitudinal Studies , Male , Retrospective Studies , Severity of Illness IndexABSTRACT
El acueducto vestibular dilatado es el hallazgo más encontrado en imágenes radiológicas de pacientes con hipoacusia neurosensorial (1,2). La frecuencia del síndrome de acueducto vestibular dilatado continúa siendo subestimada, situación que ha llevado a subdiagnosticar pacientes con esta condición. El propósito del reporte de caso y su discusión es aclarar los aspectos más importantes del diagnóstico clínico, audiológico e imagenológico de esta patología, así como considerarla parte del diagnóstico diferencial de pacientes en estudio de hipoacusia.
Large vestibular aqueduct is the most frequent condition found in radiological imaging of patients with sensorineural hearing loss. The frequency of this syndrome continues to be underestimated, which has lead to underdiagnosis. The purpose of this case report and its discussion is to clarify the most important aspects of the clinical diagnosis, audiology and radiology, as well as rise attention to the importance of this entity as part of the differential diagnosis in hearing loss workup.
Subject(s)
Humans , Hearing Loss, Sensorineural , Vestibular Aqueduct , Hearing Loss, ConductiveABSTRACT
Introducción: el acueducto vestibular dilatado, denominado en la literatura internacional EVA, porEnlarged Vestibular Aqueduct, ha sido reportadopor afectar hasta el 15% de la población pediátrica con hipoacusia neurosensorial. En su génesis compartecon Pendred en el Locus DFNB4, el Gen SLC26A4en el cromosma 7q22-31.1. No se conoce bienel comportamiento y la evolución de esta entidad,debido a la gran variabilidad genotípica y fenotípicaque presenta...
Introduction: Dilated Vestibular Aqueduct, known in the international literature Enlarged Vestibular Aqueduct (EVA) has been reported to affect up to 15% of the pediatric population with hearing loss Sensory Neuro. In its genesis shares with pendred in the locus DFNB4 the SLC26A4 gene in the cromosma 7q22-31.1. It is not well understood and evolution behavior of this entity, due to the great variability genotypic and phenotypic presented...
Introdução: Aqueduto vestibular dilatada conhecido na literatura internacional Enlarged Vestibular Aqueduct (EVA) tem sido relatada a afetar até 15% da população pediátrica com perda auditiva sensorial neuro. Em suas ações genesis com Pendred no Locus DFNB4 o gene SLC26A4 na 7q22-31.1 cromosma. Elenão é bem compreendida e o comportamento de evolução dessa entidade, devido à grande variabilidade genotípica e fenotípica apresentada...
