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Otopathology in CHARGE syndrome
Postmortem temporal bone computed tomography (CT) and histopathologic findings in an infant with CHARGE syndrome revealed bilateral cochleovestibular hypoplasia, including cochlear pathology relevant to cochlear implant candidacy. Both ears had absence of the superior semicircular canals (SCCs), sev...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042646/ https://www.ncbi.nlm.nih.gov/pubmed/32128443 http://dx.doi.org/10.1002/lio2.347 |
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author | Chen, Jenny X. Nourmahnad, Anahita O'Malley, Jennifer Reinshagen, Katherine Nadol, Joseph B. Quesnel, Alicia M. |
author_facet | Chen, Jenny X. Nourmahnad, Anahita O'Malley, Jennifer Reinshagen, Katherine Nadol, Joseph B. Quesnel, Alicia M. |
author_sort | Chen, Jenny X. |
collection | PubMed |
description | Postmortem temporal bone computed tomography (CT) and histopathologic findings in an infant with CHARGE syndrome revealed bilateral cochleovestibular hypoplasia, including cochlear pathology relevant to cochlear implant candidacy. Both ears had absence of the superior semicircular canals (SCCs), severely hypoplastic posterior SCCs, and hypoplastic (right ear) or absent (left ear) lateral SCCs seen on CT and histopathology. Histopathology further revealed the absence of all SCC ampullae except the right lateral SCC ampulla and atrophic vestibular neuroepithelium in the saccule and utricle bilaterally. The right cochlea consisted of a basal turn with patent round window, and malformed middle turn (type IV cochlear hypoplasia), with a small internal auditory canal (IAC) but near normal cochlear nerve aperture (fossette). Quantification of spiral ganglion neurons (SGNs) on histologic sections revealed a reduced SGN population (35% of normal for age), but this ear would still have likely achieved benefit from a cochlear implant based on this population. The left cochlea consisted of only a basal turn with patent round window (type III cochlear hypoplasia) with a small IAC and very small cochlear nerve aperture. Notably, histology revealed that there were no SGNs in the cochlea, and therefore, this ear would not have been a good candidate for cochlear implantation. Level of evidence: IV. |
format | Online Article Text |
id | pubmed-7042646 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-70426462020-03-03 Otopathology in CHARGE syndrome Chen, Jenny X. Nourmahnad, Anahita O'Malley, Jennifer Reinshagen, Katherine Nadol, Joseph B. Quesnel, Alicia M. Laryngoscope Investig Otolaryngol OTOLOGY, NEUROTOLOGY, AND NEUROSCIENCE Postmortem temporal bone computed tomography (CT) and histopathologic findings in an infant with CHARGE syndrome revealed bilateral cochleovestibular hypoplasia, including cochlear pathology relevant to cochlear implant candidacy. Both ears had absence of the superior semicircular canals (SCCs), severely hypoplastic posterior SCCs, and hypoplastic (right ear) or absent (left ear) lateral SCCs seen on CT and histopathology. Histopathology further revealed the absence of all SCC ampullae except the right lateral SCC ampulla and atrophic vestibular neuroepithelium in the saccule and utricle bilaterally. The right cochlea consisted of a basal turn with patent round window, and malformed middle turn (type IV cochlear hypoplasia), with a small internal auditory canal (IAC) but near normal cochlear nerve aperture (fossette). Quantification of spiral ganglion neurons (SGNs) on histologic sections revealed a reduced SGN population (35% of normal for age), but this ear would still have likely achieved benefit from a cochlear implant based on this population. The left cochlea consisted of only a basal turn with patent round window (type III cochlear hypoplasia) with a small IAC and very small cochlear nerve aperture. Notably, histology revealed that there were no SGNs in the cochlea, and therefore, this ear would not have been a good candidate for cochlear implantation. Level of evidence: IV. John Wiley & Sons, Inc. 2020-01-13 /pmc/articles/PMC7042646/ /pubmed/32128443 http://dx.doi.org/10.1002/lio2.347 Text en © 2020 The Authors. Laryngoscope Investigative Otolaryngology published by Wiley Periodicals, Inc. on behalf of The Triological Society. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | OTOLOGY, NEUROTOLOGY, AND NEUROSCIENCE Chen, Jenny X. Nourmahnad, Anahita O'Malley, Jennifer Reinshagen, Katherine Nadol, Joseph B. Quesnel, Alicia M. Otopathology in CHARGE syndrome |
title | Otopathology in CHARGE syndrome |
title_full | Otopathology in CHARGE syndrome |
title_fullStr | Otopathology in CHARGE syndrome |
title_full_unstemmed | Otopathology in CHARGE syndrome |
title_short | Otopathology in CHARGE syndrome |
title_sort | otopathology in charge syndrome |
topic | OTOLOGY, NEUROTOLOGY, AND NEUROSCIENCE |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042646/ https://www.ncbi.nlm.nih.gov/pubmed/32128443 http://dx.doi.org/10.1002/lio2.347 |
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