Otopathology in CHARGE syndrome
Abstract 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 (S...
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doaj-33134a724f644f3ca39a99daae8cd3232020-11-25T03:43:04ZengWileyLaryngoscope Investigative Otolaryngology2378-80382020-02-015115716210.1002/lio2.347Otopathology in CHARGE syndromeJenny X. Chen0Anahita Nourmahnad1Jennifer O'Malley2Katherine Reinshagen3Joseph B. Nadol Jr4Alicia M. Quesnel5Department of Otolaryngology Harvard Medical School Boston MassachusettsDepartment of Otolaryngology Harvard Medical School Boston MassachusettsDepartment of Otolaryngology Harvard Medical School Boston MassachusettsDepartment of Radiology Massachusetts Eye and Ear Boston MassachusettsDepartment of Otolaryngology Harvard Medical School Boston MassachusettsDepartment of Otolaryngology Harvard Medical School Boston MassachusettsAbstract 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.https://doi.org/10.1002/lio2.347CHARGE syndromecochlear implantationcongenital anomaliesotopathologytemporal bone pathology |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Jenny X. Chen Anahita Nourmahnad Jennifer O'Malley Katherine Reinshagen Joseph B. Nadol Jr Alicia M. Quesnel |
spellingShingle |
Jenny X. Chen Anahita Nourmahnad Jennifer O'Malley Katherine Reinshagen Joseph B. Nadol Jr Alicia M. Quesnel Otopathology in CHARGE syndrome Laryngoscope Investigative Otolaryngology CHARGE syndrome cochlear implantation congenital anomalies otopathology temporal bone pathology |
author_facet |
Jenny X. Chen Anahita Nourmahnad Jennifer O'Malley Katherine Reinshagen Joseph B. Nadol Jr Alicia M. Quesnel |
author_sort |
Jenny X. Chen |
title |
Otopathology in CHARGE syndrome |
title_short |
Otopathology in CHARGE syndrome |
title_full |
Otopathology in CHARGE syndrome |
title_fullStr |
Otopathology in CHARGE syndrome |
title_full_unstemmed |
Otopathology in CHARGE syndrome |
title_sort |
otopathology in charge syndrome |
publisher |
Wiley |
series |
Laryngoscope Investigative Otolaryngology |
issn |
2378-8038 |
publishDate |
2020-02-01 |
description |
Abstract 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. |
topic |
CHARGE syndrome cochlear implantation congenital anomalies otopathology temporal bone pathology |
url |
https://doi.org/10.1002/lio2.347 |
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