Contribuição do potencial evocado auditivo de estado estável na escolha do implante coclear ou aparelho de amplificação sonora em crianças com perda auditiva / Contribution of auditory steady state evoked potential to the election of cochlear implantation or hearing aid for children with hearing impairment / Contribución del potencial evocado auditivo de estado estable en la elección de implantación coclear o audífono en niños con deficiencia auditiva

Introdução: A deficiência auditiva em crianças prejudica a aquisição e o desenvolvimento da linguagem oral, o que pode ser minimizado com o diagnóstico e a confirmação da surdez nos primeiros meses de vida. O Potencial Evocado auditivo de estado estável (PEAEE) destaca-se diante dos demais potenciais evocados auditivos devido à facilidade de registro, à objetividade das respostas, à estimulação de várias frequências simultaneamente, em ambas as orelhas, além da identificação da audição residual. Objetivo: Verificar a contribuição do PEAEE na definição terapêutica (escolha do implante coclear ou aparelho de amplificação sonora) para a reabilitação auditiva de crianças. Método: Foram analisados os registros de 20 crianças de um mês a três anos de idade com perda auditiva neurossensorial de grau severo ou profundo bilateral e que foram submetidas ao PEAEE e ao potencial evocado auditivo de tronco encefálico frequência específica (PEATE-FE). Ambos realizados nas frequências de 500 Hz e 2000 Hz no equipamento Smart-EP Intelligent Hearing Systems®. Resultados: Houve diferença entre os exames quanto à ocorrência de resíduo auditivo, pois, um número significativo de indivíduos apresentou respostas ausentes no PEATE-FE e respostas presentes no PEAEE. Não ocorreu associação entre a presença de resíduo auditivo, o grau da perda e a idade da criança com o tipo de intervenção terapêutica. Conclusão: A presença de resíduo auditivo, a classificação do grau da perda e a idade da criança não influenciaram na conduta terapêutica final. (AU)

Introduction: Hearing impairment in children debilitates the acquisition and development of oral language, which can be minimized with diagnosis and confirmation of deafness in the first months of life. Auditory Steady State Evoked Potential (ASSEP) analysis stands out from others auditory evoked potentials due to the ease of recording, objectivity of the answers, stimulation of several frequencies simultaneously, in both ears, besides the identification of residual hearing. Purpose: Determine the contribution of the ASSEP for the therapeutic definition (election of cochlear implantation or hearing aid device) in hearing rehabilitation of children. Methods: The records of 20 children aged one month to three years with severe or profound bilateral neurosensory hearing loss, who were submitted to ASSEP and specific frequency brainstem auditory evoked potential (BAEP) analysis were analyzed. Both tests performed at frequencies of 500 Hz and 2000 Hz using the equipment Smart-EP Intelligent Hearing Systems®. Results: There was difference between the exams regarding the occurrence of residual hearing, since a significant number of individuals had absent responses on the BAEP and present responses on the ASSEP. There was no association between the presence of residual hearing, degree of hearing loss and the child's age with the type of therapeutic intervention. Conclusion: The presence of residual hearing, classification of the degree of loss and child's age exerted no influence on the final conduct. (AU)

Introducción: La deficiencia auditiva en niños hace daño a la adquisición y el desarrollo del lenguaje oral, que se puede minimizar con el diagnóstico y confirmación de la sordera en los primeros meses de vida. El Potencial Evocado de Estado Estable (PEAEE) se destaca de los demás potenciales evocados auditivos por la facilidad de registro, objetividad de las respuestas, estimulación de varias frecuencias simultáneamente, en ambos oídos, además de la identificación de audición residual. Objetivo: Verificar la contribución del PEAEE para la definición de las terapéuticas adoptadas (elección de implantación coclear o audífono) en la rehabilitación auditiva de niños. Método: Fueron analizados los registros de 20 niños de un mes a tres años de edad con pérdida auditiva sensorineural de grado severo o profundo bilateral y que fueron sometidas al PEAEE y al potencial evocado auditivo de tronco encefálico por frecuencia específica (PEATE-FE). Ambos se realizaron en las frecuencias de 500 Hz y 2000 Hz en el equipo Smart-EP Intelligent Hearing Systems®. Resultados: Hubo diferencia entre los exámenes con respecto a la ocurrencia de residuo auditivo, dado que, un número significativo de sujetos presentaron respuestas ausentes en PEATE-FE y respuestas presentes en PEAEE. No hubo asociación entre la presencia de residuo auditivo, el grado de pérdida y la edad del niño con el tipo de intervención terapéutica. Conclusión: La presencia de residuo auditivo, clasificación del grado de pérdida y edad del niño no influyeron en la conducta final. (AU)

Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.

Evaluación neurológica durante el primer año en niños muy bajo peso al nacer con infección por citomegalovirus / Neurological evaluation during the first year in very low birth weight children with cytomegalovirus infection

Introducción: La infección congénita por citomegalovirus es causa de pérdida auditiva y alteraciones cognitivas. La infección perinatal por este virus es más frecuente en neonatos< 1500 g y produce menos secuelas neurológicas. Objetivo: Describir la evaluación neurológica en el primer año de vida en niños muy bajo peso al nacer con infección por citomegalovirus. Métodos: Estudio descriptivo y longitudinal en el que se incuyeron 14 neonatos< 1500 g, con diagnóstico de infección congénita o perinatal por citomegalovirus; a los cuales se les realizó evaluación del neurodesarrollo, ultrasonido craneal, potenciales evocados auditivos de tallo cerebral y potenciales visuales a las 40 semanas, a los seis meses y al año de edad gestacional corregida. En la primera evaluación se realizó además, electroencefalograma. Resultados: El 43 por ciento tuvo infección congénita y 57 por ciento infección perinatal. A las 40 semanas se evaluaron completamente 79 % de los casos, a los seis meses 64 por ciento y al año 36 por ciento. No se observaron anormalidades en el ultrasonido craneal, ni en el electroencefalograma. Al año de edad corregida, se detectaron alteraciones ligeras del neurodesarrolo en 33,3 por ciento del total de casos (2/6) y con igual porcentaje en los niños con infección congénita (1/3) y perinatal (1/3). En ningún paciente evaluado se detectó sordera neurosensorial, ni daño del nervio visual. Conclusiones: Las alteraciones del neurodesarrollo encontradas al año de edad corregida pueden estar relacionadas con la prematuridad o la infección por citomegalovirus. El seguimiento a mediano y largo plazo es necesario para detectar otras secuelas neurológicas de debut tardío(AU)

Introduction: Congenital cytomegalovirus infection is a cause of hearing loss and cognitive impairments. Perinatal infection by this virus is more frequent in neonates< 1500 g and produces fewer neurological sequelae. Objective: To describe neurological evaluation in the first year of life in very low birth weight children with cytomegalovirus infection. Methods: A descriptive and longitudinal study involving 14 neonates< 1500 g, with a diagnosis of congenital or perinatal cytomegalovirus infection; to which neurodevelopmental evaluation, cranial ultrasound, auditory brain stem evoked potentials and visual potentials were performed at 40 weeks, six months and one year of corrected gestational age. In the first evaluation, electroencephalogram was also performed. Results: 43 percent had congenital infection and 57 percent perinatal infection. At 40 weeks, 79 percent of cases were fully evaluated, at six months 64 percent and at one year 36 percent. No abnormalities were observed on the cranial ultrasound or electroencephalogram. At one year of corrected age, slight alterations in neurodevelopment were detected in 33.3 percent of all cases (2/6) and with the same percentage in children with congenital (1/3) and perinatal (1/3) infection. In no patient evaluated, sensorineural deafness or visual nerve damage was detected. Conclusions: The neurodevelopmental alterations found at one year of corrected age may be related to prematurity or cytomegalovirus infection. Medium- and long-term follow-up is necessary to detect other late-onset neurological sequelae(AU)

Usos de cámara hiperbárica en otorrinolaringología / Uses for hyperbaric chambers in otolaryngology

Resumen En la terapia con oxígeno hiperbárico (HBO) se utiliza oxígeno al 100% de concentración en una cámara presurizada con presiones supraatmosféricas, que corresponden de 2 a 3 atmósferas. Los mecanismos por los cuales funciona esta terapia se relacionan con propiedades físicas de los gases y su comportamiento fisiológico en el organismo, lo que lleva finalmente a la hiperoxia, evento fisiológico que permite la obtención de diversos efectos beneficiosos. La evidencia en medicina ha demostrado su utilidad mayormente en la enfermedad por descompresión, infecciones cutáneas graves e intoxicación por monóxido de carbono. En el ámbito de la otorrinolaringología ha probado ser útil en algunas enfermedades como la hipoacusia súbita idiopática, tanto como terapia única como asociada al uso de corticosteroides, como en la osteomielitis refractaria del oído externo, la que en conjunto con antibioticoterapia y manejo quirúrgico presenta un evidente aumento en la tasa de mejoría. Cabe mencionar que la terapia con HBO ha demostrado también beneficios en los tratamientos y complicaciones posteriores a la radiación en pacientes con cáncer de cabeza y cuello. Es importante mencionar que la terapia con HBO no está exenta de riesgos y requiere que los pacientes cumplan con características específicas para su utilización, por lo que su indicación debe ser juiciosa y en casos seleccionados.

Abstract In hyperbaric oxygen therapy, 100% pure oxygen is used in a pressurized chamber with super atmospheric pressures which correspond to 2-3 atmospheres. The mechanism by which this treatment works is related to the physical properties of gases and their physiological behavior in the body, which leads to hyperoxia, the physiological event which allows for diverse beneficial health effects. The evidence in medicine has proven its utility mainly in decompression sickness, severe skin infections and carbon monoxide poisoning. In the otolaryngology field it has been proven useful in diseases like idiopathic sudden sensorineural hearing loss, both as the only treatment and as a concurrent treatment along with corticosteroids, in malignant otitis externa which in conjunction with antibiotic treatment and a surgical approach presents a clear increase in improvement rates. It must be mentioned that hyperbaric chamber treatment has also shown benefits in radiation treatment and post radiation complications in head and neck cancer patients. It is important to note that hyperbaric oxygen therapy is not without risks and patients must meet specific criteria for it to be applied, therefore it must be indicated using careful judgement and only in necessary cases.

Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia.@*METHODS@#Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo.@*CONCLUSION@#The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.

Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.@*METHODS@#The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.@*RESULTS@#The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.@*CONCLUSION@#The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.

Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana / Congenital sensorineural deafness X-linked, with inner ear malformation in a Mexican family

Introducción. Las sorderas o hipoacusias prelinguales son de etiología genética entre el 60 y el 68% de los casos; de estos, del 20 al 40% son malformaciones del oído interno. De los casos de hipoacusia no sindrómica ligada al X se han descrito siete tipos. De las malformaciones de oído interno, la partición coclear incompleta tipo III es la menos frecuente.Objetivo. Presentar el reporte clínico-genético de una familia mexicana, con indi-viduos varones afectados por sordera neurosensorial congénita con malformación de oído interno. Material y Métodos. Se realizó estudio de una familia en la que nueve miembros presentaban sordera. Se estudiaron cuatro de ellos y una madre sin manifestaciones, a través del estudio clínico general por médico genetista, el estudio audiológico (otos-copía y audiometría) por médico audiólogo y el estudio de tomografía computada (TC) por médico radiólogo.Resultados. Los pacientes estudiados presentaron sordera neurosensorial congéni-ta, de severa a profunda bilateral. A través de la TC, se evidenció malformación de oído interno. Tres pacientes presentaron partición coclear incompleta tipo III y un paciente partición incompleta tipo I. Debido al estudio clínico y al árbol genealógico, se definió diagnóstico de hipoacusia neurosensorial no sindrómica ligada al X. La TC de la madre sin manifestaciones no presentó evidencia de malformaciones en oído interno (MOI).Conclusión. El estudio de imagen es fundamental para definir presencia o no de MOI en todos los pacientes con hipoacusia y así poder guiar la terapéutica y el aseso-ramiento genético, así como realizar los estudios moleculares más adecuados

Introduction. The pre-lingual deafness or hearing loss are of genetic cause in be-tween 60% and 68% of cases, among these, between 20% and 40% are malforma-tion of the inner ear. From the non-syndromic hearing loss cases that are linked to the X chromosome, seven types have been described. Among these inner ear malforma-tions, incomplete cochlear partition type III is the less frequent.Objective. Present the clinical genetical report of a Mexican family, with male in-dividuals affected by congenital neurosensory deafness with inner ear malformation.Materials and methodology. A study on a family in which nine members were affected by deafness was done. Four of them, plus a mother without manifestation, were studied through a general clinical study by a geneticist, an audiological study (otoscopy and audiometry) by an audiologist, and a computed tomography (CT) scan by a radiologist.Results. The studied patients presented congenital neurosensory deafness, from se-vere to deep bilateral. Via the CT, the inner ear malformation was made clear. Three of the patients presented incomplete cochlear partition type III and one patient in-complete cochlear partition type I. Due to the clinical study and the family tree, it was diagnosed non-syndromic neurosensory deafness linked to X. The CT of the mother without manifestation did not show evidence of inner ear malformations.Conclusion. The study by image is fundamental to define whether there is or not a presence of inner ear malformations in any patient with heading loss to be able to guide the therapeutics and the genetic counseling, as well as to make more accurate molecular studies

Hipoacusia sensorineural asimétrica en el diagnóstico de schwannoma vestibular / Asymmetric sensorineural hearing loss in the diagnosis of vestibular schwannoma

Introducción: se ha descrito que los pacientes con hipoacusia asimétrica cursan en un 2% con lesiones retrococleares. La conducta de escrutinio se ha basado en la audiometría. Existen varias definiciones de asimetría audiométrica descritas en la literatura, pero sin llegar a un consenso. Aunque la prueba de oro para el diagnóstico de schwannoma vestibular es la resonancia magnética con gadolíneo, la sospecha clínica se hace en base a la asimetría audiométrica. Objetivo: hacemos una revisión de los trabajos publicados al respecto en la literatu-ra y comentamos nuestra experiencia. Reflexión: queremos enfatizar en la importancia de estudiar a los pacientes con hipoacusia asimétrica con el fin de descartar patología retrococlear. Conclusión: a pesar de que no existe un consenso claro en la definición de hi-poacusia asimétrica, la sospecha clínica de un schwannoma vestibular se basa en la audiometría

Background: It is described that 2% of patients with asymmetric hearing loss have retrocochlear lesions. The scrutiny behavior has been based on audiometry. There are several definitions of audiometric asymmetry described in the literature, but without reaching a consensus. Although the gold standard for the diagnosis of vestibular schwannoma is gadolinium magnetic resonance imaging, the clinical sus-picion is based on audiometric asymmetry. Objective: we review the results published in this regard in the literature and com-ment on our own experience. Reflection: we want to emphasize the importance of studying asymmetric hearing loss patients in order to rule out retrocochlear etiology. Conclusions: although there is no clear consensus on the definition of asym-metric hearing loss, the clinical suspicion of a vestibular schwannoma is based on the audiometry.

Desenvolvimento de habilidades auditivas de crianças no primeiro ano após o implante coclear unilateral e bilateral / Development of children's auditory skills in the first year after unilateral and bilateral cochlear implant

RESUMO Objetivo identificar se as diferenças no desenvolvimento da aquisição das habilidades auditivas iniciais em crianças após o implante coclear, unilateral ou bilateral, podem ser evidenciadas durante o primeiro ano de uso. Métodos estudo longitudinal retrospectivo de levantamento de prontuários. Foram incluídas crianças que receberam o implante coclear antes dos 4 anos de idade, separadas em dois grupos. O primeiro, composto por crianças implantadas unilateralmente e o segundo, por crianças implantadas bilateral e simultaneamente. Foram coletados os dados referentes à escala IT-MAIS (Infant-Toddler Meaningful Auditory Integration Scale) antes da cirurgia e três meses, seis meses e um ano após a cirurgia. Esses resultados foram comparados com os marcadores clínicos já existentes. Além disso, as famílias foram classificadas segundo a Escala de Avaliação de Envolvimento Familiar. Resultados foram avaliados os resultados de 29 crianças com implante coclear bilateral e 30 crianças com implante coclear unilateral. A pontuação obtida no IT-MAIS dos dois grupos foi semelhante aos marcadores clínicos. Quanto à Escala de Avaliação de Envolvimento Familiar, houve diferença, mostrando que as famílias do grupo dos bilaterais estavam mais envolvidas. Conclusão no primeiro ano de uso do implante coclear, o desenvolvimento da aquisição das habilidades auditivas iniciais das crianças implantadas bilateralmente não diferiu do desenvolvimento de crianças implantadas unilateralmente, sugerindo que as habilidades auditivas iniciais são passíveis de desenvolvimento com entrada auditiva unilateral.

ABSTRACT Purpose To identify the development of initial auditory skills in children with unilateral and bilateral cochlear implant during the first year of use. Methods Retrospective longitudinal study of medical records of children who received cochlear implant under the age of four, separated into two groups. The first, composed of children implanted unilaterally and the second, by children implanted and simultaneously. Data on the IT-MAIS scale (Infant-Toddler Meaningful Auditory Integration Scale) were collected before surgery and three months, six months and one year after surgery. These results were compared with the existing Clinical Markers. In addition, the family's classification was noted, according to the Family Involvement Assessment Scale. Results The data of 29 children with bilateral cochlear implant and 30 children with unilateral cochlear implant were evaluated. The IT-MAIS score of the two groups was similar to the Clinical Markers. Regarding the Family Involvement Assessment Scale, there was a difference, showing that families in the bilateral group were more involved. Conclusion In the first year of use of the cochlear implant, the development of children implanted bilaterally did not differ from the development of children implanted unilaterally, suggesting that initial auditory skills are likely to develop with unilateral auditory input.

Emissões otoacústicas evocadas na doença de Ménière / Otoacoustic emissions evoked in Ménière's disease

RESUMO Objetivo Verificar as respostas das emissões otoacústicas (EOA) evocadas por estímulo transiente e produto de distorção em indivíduos com doença de Ménière. Métodos Estudo transversal com casuística composta por 60 indivíduos de 19 a 75 anos de idade, distribuídos em dois grupos: grupo estudo, com 32 indivíduos com diagnóstico médico de doença de Ménière, sem outros riscos, e grupo controle formado por 28 indivíduos com perda coclear, sem doença de Ménière, pareado por idade e gênero ao grupo estudo. Critério de elegibilidade: curva tipo A, sem perda condutiva ou mista ou suspeita de alteração retrococlear. A avaliação audiológica foi composta por anamnese, inspeção do meato acústico externo, audiometria tonal limiar, logoaudiometria, medidas de imitância acústica e emissões otoacústicas evocadas por estímulo transiente e produto de distorção. Resultados Os indivíduos com Ménière apresentaram maior ocorrência de perda unilateral, zumbido pitch grave, vertigem e plenitude auricular em relação ao controle. Nesses indivíduos, houve maior incompatibilidade entre os resultados das EOA e da audiometria tonal: nas perdas unilaterais, observaram-se alterações nas EOA nas orelhas com limiares auditivos normais do lado contralateral, caracterizando disfunções cocleares. Nas orelhas com perda coclear, houve presença de EOAT (por estímulo transiente) e ausência de EOAPD (produto de distorção), contrapondo-se ao grupo controle, que apresentou ausência de EOAT e de EOAPD, como o esperado em perdas cocleares de outras etiologias. Conclusão A pesquisa das emissões na doença de Ménière identificou disfunção coclear na orelha contralateral nos casos unilaterais e presença de EOAT com ausência de EOAPD nas orelhas com perda auditiva, diferenciando-se das perdas cocleares de outras etiologias.

ABSTRACT Purpose To verify the responses of Evoked Otoacoustic Emissions by transient stimulus and distortion product in individuals with Ménière's Disease. Methods Cross-sectional study with a sample composed of 60 individuals, aged 19 to 75 years, divided into two groups: study group, with 32 individuals with a medical diagnosis of Ménière's disease, without other risks and a control group formed by 28 individuals with cochlear loss without Meniere's disease, age and sex matched to the study group. Eligibility criteria: type A curve, without conductive or mixed loss or suspected retrocochlear alteration. The audiological evaluation consisted of anamnesis, inspection of the external acoustic meatus, pure tone audiometry, logoaudiometry, measures of acoustic immittance and transient evoked otoacoustic emissions and distortion product. Results Individuals with Ménière's disease had a higher occurrence of unilateral hearing loss, low pitch tinnitus, vertigo and ear fullness in relation to the control. In these individuals, there was greater incompatibility between the results of OAE and pure tone audiometry: in unilateral hearing loss, alterations in OAE were observed in ears with normal hearing thresholds on the contralateral side, characterizing cochlear dysfunctions. In the ears with cochlear loss, there was the presence of TEOAE and absence of DPOAE, in contrast to the control group, which showed the absence of TEOAE and DPOAE, as expected in cochlear losses of other etiologies. Conclusion The investigation of emissions in Ménière's disease identified cochlear dysfunction in the contralateral ear in unilateral cases and the presence of TOAE with absence of DPOAE in ears with hearing loss, differentiating from cochlear losses of other etiologies.

Estudo das emissões otoacústicas residuais nas perdas auditivas neurossensoriais com diferenciação de artefatos e respostas fisiológicas / Study of residual otoacoustic emissions in hearing loss with artifact differentiation and physiological responses

RESUMO Objetivo avaliar o efeito da variação da intensidade de estimulação sobre as respostas das emissões otoacústicas produto de distorção em indivíduos com perda auditiva neurossensorial, utilizando um protocolo de gradiente de fase das emissões. Métodos estudo observacional transversal. Participaram 38 indivíduos com diagnóstico de perda auditiva neurossensorial de grau leve, moderado ou severo. Foram realizadas anamnese, meatoscopia, audiometria tonal liminar, logoaudiometria, imitanciometria, emissões otoacústicas produto de distorção e emissões otoacústicas residuais. As emissões otoacústicas residuais foram coletadas com o equipamento Echodia, modelo Elios®. O protocolo utilizado permite a variação dos parâmetros frequência e intensidade e as respostas são analisadas por meio do teste do Gradiente de Fase. As respostas registradas nas emissões residuais foram consideradas como "presente", "ausente" e "artefato", considerando a variação da fase em função de f1. Resultados Foram incluídas 72 orelhas. Houve diferença estatisticamente significativa nas frequências de 1300 Hz e 2000 Hz, ao comparar os resultados das emissões residuais. Ao correlacionar o resultado da audiometria e a intensidade de estimulação que evocou a emissão residual, houve correlação positiva para as frequências de 1000 Hz e 4000Hz. O "artefato" foi registrado, principalmente, nas frequências mais agudas: 56,2% em 3000 Hz e 58,2% em 4000 Hz. A emissão otoacústica residual presente foi registrada em 18,6% em 1000 Hz, 13,4% em 2000 Hz, 6,3% em 3000 Hz e 7,5% em 4000 Hz. Conclusão o aumento da intensidade de estimulação no exame de emissões pode auxiliar no estudo das células ciliadas residuais, desde que seja utilizado um protocolo capaz de diferenciar respostas fisiológicas de artefatos.

ABSTRACT Purpose To study the effect of stimulation intensity variation on the responses of distortion products in subjects with sensorineural hearing loss using a new protocol to register the otoacoustic emissions. Methods This is a cross-sectional observational study. The following procedures were performed: anamnesis, otoscopy, pure tone audiometry, speech audiometry, tympanometry, distortion product and residual otoacoustic emissions. The residual DPOAE were collected with the Echodia equipment, Elios®. The protocol that was developed allows the variation of frequency and intensity parameters and the responses are analyzed by phase gradient test. Responses recorded in residual otoacoustic emissions were considered "present", "absent" or "artifact". Results The total included ears was 72. On residual otoacoustic emissions test, at a frequency of 1300Hz and 2000Hz, there was statistically significant difference. By analyzing the average found in the audiometry and the results of residual emissions, only the frequency of 1300Hz showed a statistically significant association in all groups. By correlating the results of the audiometry and the stimulation intensity used to evoke the residual emission, there was positive correlation for the frequencies of 1000Hz and 4000Hz. The "artifact" was mostly recorded in the higher frequencies: 56.2% in 3000Hz and 58.2% in 4000 Hz. Residual EOAPD present was recorded as 18.6% at 1000Hz, 13.4% at 2000Hz, 6.3% at 3000Hz and 7.5% at 4000Hz. Conclusion The increased stimulation intensity in the otoacoustic emissions test can aid in the study of residual outer hair cells, as long as a protocol is used to check the correctness of the responses.

Les surdites brusques idiopathiques facteurs pronostiques / Sudden idiopathic deafness prognostic factors

Les surdités brusques idiopathiques (SBI) constituent l'un des sujets les plus débattus en otologie. Plusieurs problèmes d'ordre physiopathologiques, thérapeutiques et pronostiques restent non résolus. But : Identifier les facteurs pronostiques, cliniques et audiométriques de récupération auditive après traitement d'une SBI. Malades : Etude rétrospective portée sur 27 malades (29 cas de SBI) traités dans le service d'ORL et chirurgie cervicofaciale du CHU Habib Bourguiba Sfax durant la période comprise entre les années 1990 et 2005. Méthodes : C'est une étude statistique recherchant une corrélation significative entre certains facteurs cliniques et audiométriques et la récupération auditive. Les facteurs étudiés étaient : l'âge, l'aspect de la courbe audiométrique, la perte auditive initiale et le délai de prise en charge thérapeutique. Résultats : L'âge inférieur à 50 ans, la courbe ascendante et la perte auditive inférieure à 70 dB étaient les facteurs de meilleur pronostic. Le délai de prise en charge thérapeutique semble avoir peu de rôle dans la récupération auditive. Discussion : La majorité des auteurs ont signalé que l'âge jeune, les surdités légères ou moyennes, la courbe ascendante et la précocité de la prise en charge sont associés à un meilleur pronostic. Nos résultats rejoignent ceux de Tran Ba Huy qui ne trouve pas de corrélation entre le délai de prise en charge thérapeutique et le pronostic de récupération auditive.

La surdité brusque résultats thérapeutique et facteurs pronostiques / Sudden sensorineural hearing loss: therapeutic outcome and prognostic factors

Objectifs: évaluer les résultats thérapeutiques et étudier les facteurs pronostiques de la surdité brusque.Patients et méthodes: Il s'agit d'une étude rétrospective à propos de 61 patients (39 hommes et 22 femmes) pris en charge pour surdité brusque dans le service d'Otorhinolaryngologie et de Chirurgie Cervico-Faciale de l'hôpital Bourguiba de Monastir durant une période de 16 ans (2001-2016). Une analyse statistique a été réalisée afin d'identifier les facteurs influençant le pronostic de la surdité brusque. Le seuil de significativité retenu était de 5%. Résultats:L'âge moyen était de 43 ans [16-80 ans]. Le taux global de récupération auditive était de 45%. Les facteurs pronostiques selon l'analyse uni variée étaient: un antécédent d'hypoacousie controlatérale, la présence d'un vertige associé, la sévérité de la perte auditive initiale, une courbe audiométrique de type E, l'absence du réflexe stapédien et le recours à l'oxygénothérapie hyperbare (OHB). En analyse multivariée, les seuls facteurs retenus étaient une perte auditive initiale supérieure ou égale à 70 dB, la présence d'un vertige et l'absence d'un épisode infectieux précédant la survenue de la surdité. Conclusion: Notre étude a permis de retenir comme facteurs de mauvais pronostic indépendants la perte auditive initiale supérieure ou égale à 70 dB, la présence d'un vertige et l'absence d'un épisode infectieux précédant la survenue de la surdité. Ceci nous incite à une réflexion quant au protocole thérapeutique adopté dans notre service et à indiquer l'OHB, qui est normalement prescrite en cas de non réponse, en première intention, afin d'optimiser la récupération auditive.

Hipoacusia sensorioneural unilateral: Revisión de los manejos posibles en nuestra realidad nacional / Unilateral sensorineural hearing loss: Review of possible management in our national reality

La hipoacusia unilateral (HUL) definida como la pérdida auditiva de cualquier grado en un solo oído tiene prevalencias en edad escolar de 3% a 6%. La etiología es desconocida en la mayoría de los casos, pero destacan las anormalidades anatómicas severas a diferencia de las hipoacusias bilaterales, lo que le otorga importancia al estudio de imágenes. También se recomienda realizar evaluación oftalmológica. El impacto de la HUL se observa en la localización sonora, reconocimiento del habla, desarrollo del lenguaje, desempeño social y conducta, pero por sobre todo en el rendimiento académico. En este sentido es relevante mencionar que además de existir mayor probabilidad de repitencia de curso, es necesario mayor apoyo educacional individualizado para evitar dicha repitencia o lograr mismo éxito académico que un normoyente. En relación al diagnóstico aún faltan normas o protocolos, siendo éste un desafío en las zonas donde no hay screening universal. Se discute la importancia de las encuestas para realizar evaluaciones y seguimiento en estos casos. Finalmente se abordan las estrategias de intervención disponibles, además de un plan individualizado considerando al niño, su familia y sus expectativas, particularmente se discuten las características o factores a tomar en cuenta en el momento de la adaptación, para así lograr un tratamiento tendiente al éxito.

Unilateral hearing loss (UHL) defined as hearing loss of any degree in only one ear has a school-age prevalence of 3% to 6%. The etiology is unknown in most cases, but severe anatomical abnormalities stand out as opposed to bilateral hearing loss, which gives importance to the study of images. Ophthalmological evaluation is also recommended. The impact of UHL is observed in sound localization, speech recognition, language development, social performance and behavior, but above all in academic performance. In this sense, it is relevant to mention that in addition to having a higher probability of repeating the course, it is necessary to have more individualized educational support to avoid this repetition or achieve the same academic success as a normal listener. Regarding the diagnosis, there are still missing norms or protocols, this being a challenge in areas where there is no universal screening. The importance of surveys to carry out evaluations and follow-up in these cases is discussed. Finally, the available intervention strategies are discussed, in addition to an individualized plan considering the child, his family and his expectations, particularly, the factors to be taken into account at the time of adaptation, in order to achieve a success treatment.

Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome / Relação entre alteração citogenética e o perfil audiométrico de indivíduos com síndrome de Turner

Abstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. Methods: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. Results: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. Conclusion: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.

Resumo Introdução: A síndrome de Turner é uma alteração frequente e genética que acomete indivíduos do sexo feminino e abrange grande variabilidade fenotípica. A literatura científica sugere uma relação entre perda auditiva e síndrome de Turner, porém ainda é um tema controverso. Objetivo: Relacionar a alteração citogenética com o perfil audiométrico de indivíduos com síndrome de Turner. Método: Estudo transversal, com amostra de conveniência, de base hospitalar. Foram incluídas pacientes com diagnóstico de síndrome de Turner e excluídas as com dificuldade para compreender a audiometria e/ou outras síndromes associadas. As participantes foram submetidas à audiometria tonal. Resultados: Das 65 pacientes incluídas, 36,9% apresentaram monossomia do cromossomo X e 63,0%, outras alterações. Com relação à audiometria, 64,6% apresentaram limiares dentro da normalidade e 35,3% alteração auditiva. Dessas, 30,4% apresentaram perda auditiva híbrida, 26,0% alteração em 6 e/ou 8 KHz; 17,3% perda auditiva condutiva, 13,0% perda neurossensorial e 13,0% perda auditiva mista. Observamos que o grau leve foi o mais frequente. Não foi observada associação estatiscamente significativa entre o tipo citogenético da síndrome de Turner e a presença ou não perda auditiva, ou com o tipo e grau de perda auditiva. Conclusão: A alteração citogenética na síndrome de Turner não teve associação com o perfil audiométrico, o qual apresentou variabilidade quanto ao tipo e grau da perda auditiva.

Predictor parameters for poor prognosis in patients with sudden sensorineural hearing loss: fibrinogen to albumin ratio vs C-reactive protein to albumin ratio / Parâmetros preditores de mau prognóstico em pacientes com perda auditiva neurossensorial súbita: relação fibrinogênio/albumina vs. relação proteina C-reativa/albumina

Abstract Introduction Prognosis of sudden sensorineural hearing loss may be predicted using several parameters of laboratory blood analysis. Objective To identify and investigate the most significant indicator parameters related to the poor prognosis of sudden sensorineural hearing loss. Methods Eighty-eight patients were included, and three groups were constituted: non-recovery group with14 patients, recovery group with 33 patients and control group with 41 individuals. We compared fibrinogen-to-albumin ratio, C-reactive protein-to-albumin ratio, neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, white blood cell and hemoglobin of the groups. Then, we investigated the most significant indicator parameters related to the poor prognosis of sudden hearing loss. Results The mean hemoglobin, mean platelet-lymphocyte ratio and median white blood cell values did not significantly differ among three groups (p = 0.36, p = 0.86 and p = 0.79, respectively). A significant difference of median fibrinogen-albumin ratio, C-reactive protein-albumin ratio, neutrophil-to-lymphocyte ratio was evident among three groups (p < 0.001, p = 0.003 and p = 0.002, respectively). Median fibrinogen-albumin ratio, C-reactive protein-albumin ratio and neutrophil-to-lymphocyte ratio values were significantly greater in the non-recovery group, compared with the controls (p < 0.001, p = 0.003 and p = 0.005, respectively). Median fibrinogen-to-albumin ratio, C-reactive protein-to-albumin ratio and neutrophil-to-lymphocyte ratio were significantly greater in the recovery group, compared with the controls (p < 0.001, p = 0.013 and p = 0.005, respectively). Moreover, the median fibrinogen-albumin ratio was significantly greater in the non-recovery group compared with the recovery group (p = 0.017). However, no statistically significant difference of median C-reactive protein-albumin ratio, neutrophil-to-lymphocyte was evident between the non-recovery and recovery groups (p = 0.15). Conclusion Increased levels of fibrinogen-albumin ratio may be predictive for poor prognosis in patients with sudden sensorineural hearing loss.

Resumo Introdução O prognóstico de perda auditiva neurossensorial súbita pode ser previsto com vários parâmetros da análise laboratorial do sangue. Objetivo Identificar e investigar os parâmetros indicadores mais significativos relacionados ao mau prognóstico da perda auditiva neurossensorial súbita. Método Foram incluídos 88 pacientes e três grupos foram constituídos: grupo não recuperado, com14 pacientes; grupo com recuperação, 33 pacientes, e grupo controle com 41 indivíduos. Foram comparadas a relação fibrinogênio/albumina, proteína C-reativa/albumina, relação neutrófilos/linfócitos, relação plaquetas/linfócitos, glóbulos brancos e hemoglobina dos grupos. Em seguida, investigamos os parâmetros indicadores mais significativos relacionados ao prognóstico ruim da perda súbita de audição. Resultados A média de hemoglobina, média da relação plaquetas/linfócitos e mediana dos valores de glóbulos brancos não diferiram significativamente entre os três grupos (p = 0,36, p = 0,86 e p = 0,79, respectivamente). Uma diferença significante da média da relação fibrinogênio/albumina, proteína C-reativa/albumina e neutrófilos/linfócitos foi evidente entre os três grupos (p < 0,001, p = 0,003 e p = 0,002, respectivamente). Os valores da mediana da relação fibrinogênio/albumina, proteína C-reativa/albumina e relação neutrófilos/linfócitos foram significantemente maiores no grupo sem recuperação, em comparação com os controles (p < 0,001, p = 0,003 e p = 0,005, respectivamente). As medianas da relação fibrinogênio/albumina, relação proteína C-reativa/albumina e relação neutrófilos/linfócitos foram significantemente maiores no grupo com recuperação, em comparação com os controles (p < 0,001, p = 0,013 e p = 0,005, respectivamente). Além disso, a mediana da relação fibrinogênio/albumina foi significantemente maior no grupo não recuperado comparado ao grupo com recuperação (p = 0,017). No entanto, não houve diferença estatisticamente significante da mediana da relação proteína-C reativa/albumina e relação neutrófilos/linfócitos entre os grupos sem recuperação e com recuperação (p = 0,15). Conclusão Níveis elevados de relação fibrinogênio/albumina podem ser preditores de mau prognóstico em pacientes com perda auditiva neurossensorial súbita.

Severe polyhydramnios as neonatal presentation of Bartter's syndrome type IV / Polihidrâmnios grave como manifestação neonatal da síndrome de Bartter tipo IV

Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.

Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.

Jugular Foramen's Paraganglioma in a Patient with Von Hippel-Lindau Disease: Case Report

Glomus jugular tumors, also known as paragangliomas (PGLs), are rare and related to several clinical syndromes described. These are located in the carotid body, the jugular glomus, the tympanic glomus and the vagal glomus. The symptoms are directly related to the site of involvement and infiltration. These lesions have slow growth, are generally benign and hypervascularized, have a peak incidence between the age of 30 to 50 years old; however, when associated with hereditary syndromes, they tend to occur a decade earlier. Several familial hereditary syndromes are associated with PGLs, including Von Hippel- Lindau disease (VHL) in< 10% of the cases. The diagnosis and staging of PGLs are based on imaging and functional exams (bone window computed tomography [CT] with a "ground moth" pattern and magnetic resonance imaging (MRI) with a "salt and pepper" pattern). The cerebral angiography is a prerequisite in patients with extremely vascularized lesions, whose preoperative embolization is necessary. The histopathological finding of cell clusters called "Zellballen" is a characteristic of PGLs. Regarding the jugular foramen, the combination of two or three surgical approaches may be necessary: (1) lateral group, approaches through themastoid; (2) posterior group, through the retrosigmoid access and its variants; and (3) anterior group, centered on the tympanic and petrous bone. In the present paper, we report a case of PGL of the jugular foramen operated on a young female patientwho underwent a surgery with a diagnosis ofVonHippel-Lindau Disease (VHL) at the Neurosurgery Service of the Hospital Heliópolis, São Paulo, state of São Paulo, Brazil in 2018, by the lateral and posterior combined route.

Intervención educativa en adultos mayores hipoacúsicos sobre el uso de audífonos para la rehabilitación auditiva / Educative intervention for hearing impaired older adults on the use of hearing aids for auditory rehabilitation / Intervenção educativa em idosos com deficiência auditiva sobre o uso de aparelhos para reabilitação auditiva

RESUMEN Introducción: La educación de los pacientes adultos mayores hipoacúsicos sobre su enfermedad y el uso de audífonos es una exigencia social. Objetivo: Diseñar e implementar una intervención educativa dirigida a la preparación de los pacientes adultos mayores con hipoacusia neurosensorial respecto al uso de audífonos para la rehabilitación auditiva atendidos en el Centro Auditivo "Dr. Mario Velázquez Leal" de la provincia de Guantánamo en el año 2019. Método: Se realizó un pre experimento en 80 pacientes con hipoacusia neurosensorial que utilizaron audífonos. El estímulo consistió en la implementación de una intervención educativa dirigida a su preparación respecto al tema hipoacusia y el uso de audífonos para la rehabilitación auditiva. Resultados: El 88,7 % de los pacientes consideró que la hipoacusia limitaba la calidad de vida y el 87,5 % reconoció que asumía una actitud inadecuada para el control de la discapacidad, lo que indicó la necesidad de educarlos respecto al tema. El 36,2 % de ellos está adecuadamente preparado sobre el tema, luego de la intervención educativa esta proporción se elevó hasta el 93,7 %. Conclusiones: Se identifica que los pacientes adultos mayores con hipoacusia neurosensorial que utilizan audífonos para la rehabilitación auditiva muestran carencias teóricas sobre el tema hipoacusia y uso de audífonos, que son resueltas con el diseño e implementación de una intervención educativa dirigida a su preparación para esta finalidad.

ABSTRACT Introduction: Educating the older hearing impaired patients about their condition and the use of hearing aids is a social requirement. Objective: To design and implement an educative intervention aimed at preparing older adult patients with presence of sensorineural hearing loss regarding the use of hearing aids for auditory rehabilitation attended at the Centro Auditivo "Dr. Mario Velázquez Leal", Guantánamo, in 2019. Method: A pre-experimental study was conducted on 80 patients with sensorineural hearing loss who used hearing aids. The stimulus consisted on the implementation of an educative intervention aimed at preparing them for appearance hearing loss and the use of hearing aids for auditory rehabilitation. Results: The 88.7% of patients considering that hearing loss is a problem in health and 87.5% recognized that they had an inadequate attitude towards the management of their impairment, which revealed the need to educate them on the subject. The 36.2% of patients were adequately prepared on the subject, but after the educative intervention this proportion rose to 93.7%. Conclusions: It is marked that older adult patients with sensorineural hearing loss, who use hearing aids for auditory rehabilitation, demonstrated theoretical deficiencies on the hearing loss and use of hearing aids subject, which are solved with the design and implementation of an educative intervention aimed at preparing the patients for this purpose.

RESUMO Introdução: A educação dos pacientes idosos com deficiência auditiva sobre a sua doença eo uso de aparelhos auditivos é uma exigência social. Objetivo: Projetar e implementar uma intervenção educativa destinada a preparar pacientes idosos com perda auditiva neurossensorial em relação ao uso de aparelhos auditivos para reabilitação auditiva atendidos no Centro Auditivo "Dr. Mario Velázquez Leal" da província de Guantánamo durante 2019. Método: Um pré-experimento foi realizado em 80 pacientes com perda auditiva neurossensorial que usou aparelhos auditivos. O estímulo consistiu na implementação de uma intervenção educacional que visa a sua preparação em relação à questão da perda e do uso de aparelhos auditivos para reabilitação auditiva. Resultados: 88,7% dos pacientes consideraram que a perda auditiva limitou sua qualidade de vida e 87,5% reconheceram que assumiram uma atitude inadequada para controlar a deficiência, o que indicou a necessidade de educá-los sobre o assunto. 36,2% deles estão adequadamente preparados sobre o assunto, após a intervenção educativa essa proporção subiu para 93,7%. Conclusões: Identifica-se que pacientes idosos com perda auditiva neurossensorial usuários de aparelhos para reabilitação auditiva apresentam deficiências teóricas sobre o tema perda auditiva e uso aparelhos auditivos, as quais são sanadas com a concepção e implementação de uma intervenção educativa voltada à sua preparação. para este propósito.

Cribado de infección por citomegalovirus congénito en recién nacidos de alto riesgo / Congenital cytomegalovirus infection screening in high risk newborn

INTRODUCCIÓN: La infección congénita por citomegalovirus (CMVc) es la causa más frecuente de infección intrauterina, 90% de los recién nacidos (RN) son asintomáticos al nacer y 6 a 15% desarrollarán secuelas a largo plazo, siendo la principal etiología de hipoacusia sensorio-neural no-genética. OBJETIVO: Determinar la prevalencia de CMVc en RN de alto riesgo. PACIENTES Y MÉTODO: Estudio de cohorte prospectivo, incluyó RN hospitalizados, con uno o más de los siguientes criterios: peso de nacimiento < 1.500 g, < 32 semanas edad gestacional (EG), pequeños para edad gestacional (PEG) severos, sospecha de infección congénita o que "no pasan" en estudio auditivo al nacer, además de hijos de madre con infección por VIH. Se realizó reacción de polimerasa en cadena para CMV en orina antes de 21 días de vida. RESULTADOS: Se enrolaron 193 RN. Prevalencia global CMVc 2,6% (n: 5) y por grupo de riesgo: 1/3 (n: 1) en RN con sospecha activa de infección congénita, 8,3% en RN con resultado "no pasa" en estudio auditivo, 4,9% en hijos de madre con infección por VIH, 3,3% en PEG severo y 1,7% < 1500 g, ninguno con asociación significativa. Sólo un paciente con CMVc fue sintomático, quien falleció en el período neonatal y los restantes RN con CMVc (asintomáticos) tienen seguimiento auditivo normal. DISCUSIÓN: La prevalencia reportada es comparable a las internacionales. Recomendamos cribado de CMVc, al menos en grupos de riesgo, siendo lo ideal el cribado universal. Esto permitiría su tratamiento oportuno y un seguimiento activo.

BACKGROUND: Congenital cytomegalovirus infection (cCMV) is the most frequent cause of congenital infection, 90% of affected newborn (NB) are asymptomatic at birth and 6-15% will develop long term sequalae. It is the main etiology of non-genetic sensorineural hearing loss. AIM: To determine prevalence of CMV in high risk NB. Methods: Cohort prospective study, including inpatient NB with one or more of following criteria: birth weight < 1,500 g, < 32 weeks gestational age (GA), severe small for gestational age (SGA), suspected congenital infection or "refer" in newborn hearing test, also NB to HIV-infected mothers. Urine CMV polymerase chain reaction was performed within 21 day of life. RESULTS: 193 NB were enrolled. Global cCMV prevalence 2.6% (n: 5) and by risk group: one third (n: 1) in NB with suspected congenital infection, 8.3% in NB with "refer" result in hearing test, 4.9% in NB to HIV-infected mothers, 3.3% in severe SGA and 1.7% in < 1,500 g, none with significant association. Only one symptomatic cCMV was detected who died in neonatal period and the remaining (asymptomatic) cCMV patients have normal hearing follow-up. DISCUSSION: Reported prevalence was comparable to international reports. We recommend cCMV screening, at least in risk groups, being ideal the universal screening. This would allow timely treatment and active follow-up.