Otopathologic Abnormalities in CHARGE Syndrome

2021 ◽  
pp. 019459982110089
Author(s):  
Rafael da Costa Monsanto ◽  
Renata Malimpensa Knoll ◽  
Norma de Oliveira Penido ◽  
Grace Song ◽  
Felipe Santos ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Middle Ear ◽  
Spiral Ganglion ◽  
Internal Auditory Canal ◽  
Semicircular Canals ◽  
Charge Syndrome ◽  
University Of Minnesota ◽  
Bony Canal ◽  
Ganglion Neurons ◽  
Temporal Bones

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.

Temporal Bone Histopathological Findings in Trisomy 13 Syndrome

1975 ◽  
Vol 84 (21_suppl) ◽  
pp. 3-20 ◽  
Author(s):  
Isamu Sando ◽  
Alberto Leiberman ◽  
LaVonne Bergstrom ◽  
Soji Izumi ◽  
Raymond P. Wood
Keyword(s):  
Facial Nerve ◽  
Middle Ear ◽  
Semicircular Canals ◽  
Trisomy 13 ◽  
Obtuse Angle ◽  
Fetal Life ◽  
Horizontal Canal ◽  
Histopathological Findings ◽  
Middle Ear Infection ◽  
Temporal Bones

This study reports the histopathological findings of 14 temporal bones from infants with trisomy 13 syndrome. The most primitive anomalies in the structures of the inner and middle ears in the present series are those of the semicircular canals, particularly of the horizontal canals: flattened horizontal canal cristae, absence or opening of the utricular endolymphatic valve, small facial nerve, and obtuse angle of the geniculate area of the facial nerve. Each ear demonstrated more than one of those anomalies. The anomalies present features similar to those found in the structures of the normal six to ten-week fetus. Many other mild anomalies observed appear to demonstrate features similar to those seen in the same structures in later fetal life. Reviewing these findings, most of the anomalies that were found in the inner and middle ears appear to be the result of poor development of the structures for reasons which are now unclear. In addition, middle ear infection was found in all cases.

Labyrinthine Segment and Geniculate Ganglion of Facial Nerve in Fetal and Adult Human Temporal Bones

1981 ◽  
Vol 90 (4_suppl) ◽  
pp. 1-12 ◽  
Author(s):  
Xian-Xi Ge ◽  
Gershon J. Spector
Keyword(s):  
Facial Nerve ◽  
Middle Ear ◽  
Internal Auditory Canal ◽  
Vascular Supply ◽  
Petrous Apex ◽  
Geniculate Ganglion ◽  
Facial Canal ◽  
Lateral Plate ◽  
Nerve Segment ◽  
Temporal Bones

The later stages of development (15–40 weeks in utero) of the geniculate ganglion and labyrinthine segment of the facial nerve in the human fetus demonstrate minimal neuronal growth. The vascular supply is well established. The major changes occur in the perineural ossification pattern. The canal of the labyrinthine facial nerve segment ossifies first via the petrous apex and periotic capsule. The narrowest portion of the canal is at the geniculate ganglion in the earlier stages and at the fundus of the internal auditory canal at term. The geniculate ganglion area ossifies by means of two bony plates. The medial plate is a derivate of the periosteal growth of the petrous apex and the lateral plate is an extension of membranous bone from the squama. The major relationships to the middle ear do not change. The hiatus of the facial canal diminishes in size during gestation, but remains patent at birth.

Temporal Bone Histopathological Findings in Trisomy 13 Syndrome

1975 ◽  
Vol 84 (4_suppl) ◽  
pp. 2-20 ◽  
Author(s):  
Isamu Sando ◽  
Alberto Leiberman ◽  
LaVonne Bergstrom ◽  
Soji Izumi ◽  
Raymond P. Wood
Keyword(s):  
Facial Nerve ◽  
Middle Ear ◽  
Semicircular Canals ◽  
Trisomy 13 ◽  
Obtuse Angle ◽  
Fetal Life ◽  
Horizontal Canal ◽  
Histopathological Findings ◽  
Middle Ear Infection ◽  
Temporal Bones

This study reports the histopathological findings of 14 temporal bones from infants with trisomy 13 syndrome. The most primitive anomalies in the structures of the inner and middle ears in the present series are those of the semicircular canals, particularly of the horizontal canals: flattened horizontal canal cristae, absence or opening of the utricular endolymphatic valve, small facial nerve, and obtuse angle of the geniculate area of the facial nerve. Each ear demonstrated more than one of those anomalies. The anomalies present features similar to those found in the structures of the normal six to ten-week fetus. Many other mild anomalies observed appear to demonstrate features similar to those seen in the same structures in later fetal life. Reviewing these findings, most of the anomalies that were found in the inner and middle ears appear to be the result of poor development of the structures for reasons which are now unclear. In addition, middle ear infection was found in all cases.

scholarly journals Histopathology of the Human Inner Ear in the Cogan Syndrome with Cochlear Implantation

2017 ◽  
Vol 22 (2) ◽  
pp. 116-123 ◽  
Author(s):  
Takefumi Kamakura ◽  
Daniel J. Lee ◽  
Barbara S. Herrmann ◽  
Joseph B. Nadol Jr.
Keyword(s):  
Bone Formation ◽  
Cochlear Implantation ◽  
Fibrous Tissue ◽  
Spiral Ganglion ◽  
New Bone Formation ◽  
Cogan Syndrome ◽  
Interstitial Keratitis ◽  
The Right ◽  
Ganglion Neurons ◽  
Temporal Bones

The Cogan syndrome is a rare disorder characterized by nonsyphilitic interstitial keratitis and audiovestibular symptoms. Profound sensorineural hearing loss has been reported in approximately half of the patients with the Cogan syndrome resulting in candidacy for cochlear implantation in some patients. The current study is the first histopathologic report on the temporal bones of a patient with the Cogan syndrome who during life underwent bilateral cochlear implantation. Preoperative MRI revealed tissue with high density in the basal turns of both cochleae and both vestibular systems consistent with fibrous tissue due to labyrinthitis. Histopathology demonstrated fibrous tissue and new bone formation within the cochlea and vestibular apparatus, worse on the right. Severe degeneration of the vestibular end organs and new bone formation in the labyrinth were seen more on the right than on the left. Although severe bilateral degeneration of the spiral ganglion neurons was seen, especially on the right, the postoperative word discrimination score was between 50 and 60% bilaterally. Impedance measures were generally higher in the right ear, possibly related to more fibrous tissue and new bone found in the scala tympani on the right side.

scholarly journals Gene therapy as a possible option to treat hereditary hearing loss

2020 ◽  
Vol 32 (2) ◽  
pp. 149-159
Author(s):  
Michael Morgan ◽  
Juliane W. Schott ◽  
Axel Rossi ◽  
Christian Landgraf ◽  
Athanasia Warnecke ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Hearing Loss ◽  
Middle Ear ◽  
Hearing Aids ◽  
Spiral Ganglion ◽  
Primary Auditory Cortex ◽  
Auditory Pathway ◽  
Therapeutic Strategies ◽  
Sound Waves ◽  
Ganglion Neurons

Abstract The process of hearing involves a series of events. The energy of sound is captured by the outer ear and further transferred through the external auditory canal to the middle ear. In the middle ear, sound waves are converted into movements of the tympanic membrane and the ossicles, thereby amplifying the pressure so that it is sufficient to cause movement of the cochlear fluid. The traveling wave within the cochlea leads to depolarization of the inner ear hair cells that, in turn, release the neurotransmitter glutamate. Thereby, the spiral ganglion neurons are activated to transfer the signals via the auditory pathway to the primary auditory cortex. This complex combination of mechanosensory and physiological mechanisms involves many distinct types of cells, the function of which are impacted by numerous proteins, including those involved in ion channel activity, signal transduction and transcription. In the last 30 years, pathogenic variants in over 150 genes were found to be linked to hearing loss. Hearing loss affects over 460 million people world-wide, and current treatment approaches, such as hearing aids and cochlear implants, serve to improve hearing capacity but do not address the underlying genetic cause of hearing loss. Therefore, therapeutic strategies designed to correct the genetic defects causative for hearing loss offer the possibility to treat these patients. In this review, we will discuss genetic causes of hearing loss, novel gene therapeutic strategies to correct hearing loss due to gene defects and some of the preclinical studies in hearing loss animal models as well as the clinical translation of gene therapy approaches to treat hearing loss patients.

Distance from the Labyrinthine Portion of the Facial Nerve to the Basal Turn of the Cochlea Temporal Bone Histopathologic Study

1996 ◽  
Vol 105 (4) ◽  
pp. 323-326 ◽  
Author(s):  
Miriam I. Redleaf ◽  
Richard R. Blough
Keyword(s):  
Facial Nerve ◽  
Internal Auditory Canal ◽  
Middle Cranial Fossa ◽  
Geniculate Ganglion ◽  
Cochlear Function ◽  
Standard Size ◽  
Basal Turn ◽  
History Of ◽  
Cranial Fossa ◽  
Temporal Bones

The middle cranial fossa approach to lesions of the geniculate ganglion and internal auditory canal preserves cochlear function and affords access to the lateral internal auditory canal. The labyrinthine portion of the facial nerve tends to course near the basal turn of the cochlea, just beneath the middle cranial fossa floor, and is usually dissected in this approach. To determine the distance from the labyrinthine portion of the facial nerve to the basal turn of the cochlea, measurements were obtained in the temporal bones of 24 subjects (48 ears) 9 to 76 years of age. These subjects had no history of facial nerve or ear disease, and had normal audiograms. The distances ranged from 0.06 to 0.80 mm, with 21 of 24 right ears (87.5%) showing distances less than the standard size of the smallest diamond drills (0.6 mm), and 18 of 24 (75%) less than 0.5 mm. Incidental note is made of the distance from the geniculate ganglion to the ampulla of the superior semicircular canal, which ranged from 2.06 to 4.88 mm in the 48 specimens. These measurements can serve as guidelines for the surgeon working in the middle cranial fossa.

Auditory and Temporal Bone Abnormalities in Charge Association

1986 ◽  
Vol 95 (5) ◽  
pp. 480-486 ◽  
Author(s):  
Charles G. Wright ◽  
William L. Meyerhoff ◽  
O. E. Brown ◽  
J. C. Rutledge
Keyword(s):  
Hearing Loss ◽  
Facial Nerve ◽  
Temporal Bone ◽  
Choanal Atresia ◽  
Charge Syndrome ◽  
Oval Window ◽  
Congenital Defects ◽  
Auditory Brain Stem Response ◽  
Charge Association ◽  
Temporal Bones

CHARGE association is a recently described cluster of congenital defects including ocular coloboma, heart disease, choanal atresia, retarded development and/or CNS abnormalities, genital hypoplasia, and ear anomalies. Although congenital hearing loss has been reported in CHARGE association, no information regarding the underlying temporal bone disease is available in the literature to date. The authors evaluated four patients with multiple anomalies consistent with CHARGE syndrome. Two surviving patients have bilateral severe hearing loss on auditory brain stem response testing. Two patients did not survive, and their temporal bones were obtained at autopsy for histologic examination. All four temporal bones showed severe middle ear defects including ossicular deformities, absence of the stapedius muscle, absence of the oval window, aberrant course of the facial nerve, and dehiscence of the facial nerve canal. In the more severely affected case, a Mondini-type malformation of the cochlea was present, together with multiple anomalies of the vestibular apparatus. Vestibular defects also occurred in the other case; however, the cochleae were found to be normally developed.

Patterns of Anomalies of Structures of the Middle Ear and the Facial Nerve as Revealed in Newborn Temporal Bones

2013 ◽  
Vol 34 (6) ◽  
pp. 1121-1126
Author(s):  
Miklós Tóth ◽  
Jarinratn Sirirattanapan ◽  
Wolf Mann
Keyword(s):  
Facial Nerve ◽  
Middle Ear ◽  
Temporal Bones

Effect of thermal energy produced by drilling on the facial nerve: histopathologic evaluation in guinea pigs

2005 ◽  
Vol 119 (8) ◽  
pp. 600-605 ◽  
Author(s):  
Asim Aslan ◽  
H Seda Vatansever ◽  
Gulay Guclu Aslan ◽  
Gorkem Eskiizmir ◽  
Gulsen Giray
Keyword(s):  
Facial Nerve ◽  
Thermal Energy ◽  
Guinea Pigs ◽  
Control Group ◽  
Temperature Changes ◽  
Bony Canal ◽  
Before And After ◽  
Histopathologic Evaluation ◽  
Temporal Bones ◽  
Oxide Synthase

The effect of thermal energy due to drilling around the facial nerve canal on the facial nerve was histopathologically evaluated in four guinea pigs. The bony canal of the facial nerve was drilled using a 3mm diamond burr for one minute. The temperature changes on the facial nerve canalwere noted before and after dissection. The temporal bones of the animals were histopathologically examined under light microscopy using haematoxylin & eosin (H&E) and solochrome cyanine staining for myelin, and immunohistochemical staining for neuronal nitric oxide synthase (nNOS). Compared to the control group, it was observed with H&E staining that there was oedema among the axonal fibres and with solochrome cyanine staining that the thickness of the myelin fibres was decreased, and that the severity and extent of nNOS activity was decreased in the axonal fibres. It was concluded that a temperature increase on the facial canal may potentially lead to inflammation of the nerve, and may also cause deterioration of nerve conduction to some extent.

Transcranial translabyrinthine approach to vestibular schwannomas

1993 ◽  
Vol 107 (2) ◽  
pp. 111-114 ◽  
Author(s):  
Joseph G. Feghali ◽  
Allen B. Kantrowitz
Keyword(s):  
Facial Nerve ◽  
Temporal Bone ◽  
Semicircular Canal ◽  
Internal Auditory Canal ◽  
Endolymphatic Sac ◽  
Vestibular Schwannomas ◽  
Translabyrinthine Approach ◽  
Vestibular Aqueduct ◽  
Temporal Bones ◽  
Suboccipital Approach

Surgeons who utilize the suboccipital approach for the removal of large vestibular schwannomas, can perform a planned labyrinthectomy from within the intracranial cavity via the suboccipital exposure. This transcranial translabyrinthine approach provides one of the major advantages of the conventional transmastoid translabyrinthine approach, namely, unambiguous identification of the facial nerve as it exits the internal auditory canal, without the need for complete mastoidectomy and labyrinthectomy. The labyrinthectomy is best performed prior to the complete exposure of the internal auditory canal. The approach requires the surgeon to identify the endolymphatic sac intracranially, then drill the temporal bone and follow the vestibular aqueduct to the utricle. The lateral and superior semicircular canal ampullae, the superior vestibular nerve, Bill's bar, and the facial nerve at the lateral end of the internal auditory canal can then be identified. After testing on multiple cadaver temporal bones, this approach was used in patients with large tumours that extended far laterally in the internal auditory canal. The steps in the technique are described in detail.

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