TY - JOUR
T1 - Otopathologic Abnormalities in CHARGE Syndrome
AU - da Costa Monsanto, Rafael
AU - Knoll, Renata Malimpensa
AU - de Oliveira Penido, Norma
AU - Song, Grace
AU - Santos, Felipe
AU - Paparella, Michael Mauro
AU - Cureoglu, Sebahattin
N1 - Publisher Copyright:
© American Academy of Otolaryngology–Head and Neck Surgery Foundation 2021.
PY - 2022/2
Y1 - 2022/2
N2 - Objective: To perform an otopathologic analysis of temporal bones (TBs) with CHARGE syndrome. Study Design: Otopathologic study of human TB specimens. Setting: Otopathology laboratories. Methods: From the otopathology laboratories at the University of Minnesota and Massachusetts Eye and Ear Infirmary, we selected TBs from donors with CHARGE syndrome. These TBs were serially sectioned at a thickness of 20 µm, and every 10th section was stained with hematoxylin and eosin. We performed otopathologic analyses of the external ear, middle ear (middle ear cleft, mucosal lining, ossicles, mastoid, and facial nerve), and inner ear (cochlea, vestibule, internal auditory canal, and cochlear and vestibular nerves). The gathered data were statistically analyzed. Results: Our study included 12 TBs from 6 donors. We found a high prevalence of abnormalities affecting the ears. The most frequent findings were stapes malformation (100%), aberrant course of the facial nerve (100%) with narrow facial recess (50%), sclerotic and hypodeveloped mastoids (50%), cochlear (100%) and vestibular (83.3%) hypoplasia with aplasia of the semicircular canals, hypoplasia and aplasia of the cochlear (66.6%) and vestibular (91.6%) nerves, and narrowing of the bony canal of the cochlear nerve (66.6%). The number of spiral ganglion and Scarpa’s ganglion neurons were decreased in all specimens (versus normative data). Conclusions: In our study, CHARGE syndrome was associated with multiple TB abnormalities that may severely affect audiovestibular function and rehabilitation.
AB - Objective: To perform an otopathologic analysis of temporal bones (TBs) with CHARGE syndrome. Study Design: Otopathologic study of human TB specimens. Setting: Otopathology laboratories. Methods: From the otopathology laboratories at the University of Minnesota and Massachusetts Eye and Ear Infirmary, we selected TBs from donors with CHARGE syndrome. These TBs were serially sectioned at a thickness of 20 µm, and every 10th section was stained with hematoxylin and eosin. We performed otopathologic analyses of the external ear, middle ear (middle ear cleft, mucosal lining, ossicles, mastoid, and facial nerve), and inner ear (cochlea, vestibule, internal auditory canal, and cochlear and vestibular nerves). The gathered data were statistically analyzed. Results: Our study included 12 TBs from 6 donors. We found a high prevalence of abnormalities affecting the ears. The most frequent findings were stapes malformation (100%), aberrant course of the facial nerve (100%) with narrow facial recess (50%), sclerotic and hypodeveloped mastoids (50%), cochlear (100%) and vestibular (83.3%) hypoplasia with aplasia of the semicircular canals, hypoplasia and aplasia of the cochlear (66.6%) and vestibular (91.6%) nerves, and narrowing of the bony canal of the cochlear nerve (66.6%). The number of spiral ganglion and Scarpa’s ganglion neurons were decreased in all specimens (versus normative data). Conclusions: In our study, CHARGE syndrome was associated with multiple TB abnormalities that may severely affect audiovestibular function and rehabilitation.
KW - CHARGE syndrome
KW - cochlear implantation
KW - congenital abnormalities
KW - deafness
KW - hearing loss
KW - inner ear
KW - middle ear
KW - otopathology
KW - temporal bone pathology
KW - vestibular diseases
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U2 - 10.1177/01945998211008911
DO - 10.1177/01945998211008911
M3 - Article
C2 - 33874787
AN - SCOPUS:85104752416
SN - 0194-5998
VL - 166
SP - 363
EP - 372
JO - Otolaryngology - Head and Neck Surgery (United States)
JF - Otolaryngology - Head and Neck Surgery (United States)
IS - 2
ER -