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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...

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Autores principales: Chen, Jenny X., Nourmahnad, Anahita, O'Malley, Jennifer, Reinshagen, Katherine, Nadol, Joseph B., Quesnel, Alicia M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
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.
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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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