Bilateral congenital semicircular canal malformation and hearing loss - case report
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.25753/BirthGrowthMJ.v29.i1.15336 |
Resumo: | The main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan. |
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Bilateral congenital semicircular canal malformation and hearing loss - case reportMalformação congénita bilateral dos canais semicirculares e perda auditiva - descrição de casosCase ReportsThe main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan.Os principais objetivos deste estudo observacional foram descrever uma malformação pouco reconhecida do ouvido interno designada malformação congénita bilateral dos canais semicirculares; determinar se o grau e padrão de dismorfia dos canais semicirculares e a presença ou ausência de uma cóclea bem formada são preditivos do resultado audiológico, tipo e gravidade da perda auditiva congénita; e investigar se esta malformação surge isoladamente ou em associação a formas sindrómicas já descritas. Foi realizada uma revisão de oito casos de perda auditiva com evidência radiológica de malformação congénita dos canais semicirculares. Foi recolhida informação sobre história clínica, exame físico, estudo imagiológico por tomografia computorizada e audiogramas seriados para todos os doentes. As características analisadas incluíram presença de outras dismorfias sugestivas de síndromes malformativas; avaliação da configuração, gravidade e tipo de perda auditiva nos exames audiométricos; tipo de reabilitação audiológica; e presença de outras anomalias do ouvido interno para além das alterações no sistema vestibular. Entre os oito casos incluídos no estudo, seis apresentavam um síndrome ou anomalia cromossómica conhecida. A perda auditiva foi moderada a profunda em todos os casos. Todos os pacientes apresentavam deformidades dos canais semicirculares bilateralmente, com padrão anatómico geralmente idêntico em cada lado. Dos oito casos, seis apresentavam um desenvolvimento coclear normal; malformações na membrana timpânica e no canal auditivo externo foram encontradas apenas em um caso; alterações na cadeia ossicular foram descritas em três pacientes; o vestíbulo e aqueduto vestibular eram normais na maioria dos casos; anomalias no desenvolvimento da janela oval estavam presentes em dois casos. O presente estudo mostra que é difícil estabelecer uma correlação entre a gravidade e o tipo de perda auditiva e as alterações radiográficas. A perda auditiva associada à displasia do canal semicircular é mais provável devido ao desenvolvimento anômalo do labirinto membranoso, que não é detetável radiologicamente pela tomografia computadorizada.Centro Hospitalar Universitário do Porto2020-03-24T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v29.i1.15336eng2183-9417Costa, Joana RaquelCoutinho, Miguel BebianoSoares, TeresaSousa, Cecília Almeida einfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T14:55:32Zoai:ojs.revistas.rcaap.pt:article/15336Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:56:27.983683Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Bilateral congenital semicircular canal malformation and hearing loss - case report Malformação congénita bilateral dos canais semicirculares e perda auditiva - descrição de casos |
title |
Bilateral congenital semicircular canal malformation and hearing loss - case report |
spellingShingle |
Bilateral congenital semicircular canal malformation and hearing loss - case report Costa, Joana Raquel Case Reports |
title_short |
Bilateral congenital semicircular canal malformation and hearing loss - case report |
title_full |
Bilateral congenital semicircular canal malformation and hearing loss - case report |
title_fullStr |
Bilateral congenital semicircular canal malformation and hearing loss - case report |
title_full_unstemmed |
Bilateral congenital semicircular canal malformation and hearing loss - case report |
title_sort |
Bilateral congenital semicircular canal malformation and hearing loss - case report |
author |
Costa, Joana Raquel |
author_facet |
Costa, Joana Raquel Coutinho, Miguel Bebiano Soares, Teresa Sousa, Cecília Almeida e |
author_role |
author |
author2 |
Coutinho, Miguel Bebiano Soares, Teresa Sousa, Cecília Almeida e |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Costa, Joana Raquel Coutinho, Miguel Bebiano Soares, Teresa Sousa, Cecília Almeida e |
dc.subject.por.fl_str_mv |
Case Reports |
topic |
Case Reports |
description |
The main aims of this observational study were to describe a poorly characterized malformation of the inner ear termed bilateral congenital semicircular canal malformation; determine if the degree and pattern of semicircular canal dysmorphology and the presence or absence of a well-formed cochlea predict audiological outcomes, type, and severity of congenital hearing loss; and investigate its relationship with known syndromic forms of hearing loss. Review of eight cases of hearing loss with radiographic evidence of congenital semicircular canal malformation was performed. Information was collected on clinical history, physical examination, computed tomography study and serial audiograms for all patients. Analyzed features included other syndrome-characteristic phenotypic dysmorphologies, audiometric configuration, severity and type of hearing loss, type of audiological rehabilitation, and presence of associated inner ear abnormalities besides those in the vestibular system. Among the eight cases included in the study, six patients had recognized syndromes/chromosomal abnormalities. Hearing loss was moderate to profound in all cases. All patients had bilateral semicircular canal deformities, with usually identical anatomical pattern on each side. Of the eight cases, six had normal cochlear development; malformations in the tympanic membrane and external auditory canal were only found in one; changes in ossicular chain were found in three patients; vestibules and vestibular aqueduct were normal in most cases; and abnormalities of oval window development and hypoplasia were found in two cases. The present study shows that a correlation between the severity and type of hearing loss and radiographic abnormalities is difficult to establish. Hearing loss associated with semicircular canal dysplasia is more likely due to anomalous membranous labyrinth development, which is not radiologically detectable by computerized tomography scan. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-03-24T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.25753/BirthGrowthMJ.v29.i1.15336 |
url |
https://doi.org/10.25753/BirthGrowthMJ.v29.i1.15336 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2183-9417 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799130433242267648 |