Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

2000 ◽  
Vol 92 (3) ◽  
pp. 195-199 ◽  
Author(s):  
Yasuko Fujita ◽  
Daishi Mochizuki ◽  
Yosuke Mori ◽  
Natsue Nakamoto ◽  
Masaaki Kobayashi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Accelerated Growth ◽  
Ear Anomalies ◽  
The Brain ◽  
Delayed Myelination

scholarly journals Cochlear Nerve Canal Stenosis: Association With MYH14 and MYH9 Genes

2021 ◽  
pp. 014556132199683
Author(s):  
Wenqi Liang ◽  
Line Wang ◽  
Xinyu Song ◽  
Fenqi Gao ◽  
Pan Liu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Next Generation Sequencing ◽  
Inner Ear ◽  
Internal Auditory Canal ◽  
Cochlear Nerve ◽  
Transverse Diameter ◽  
Congenital Hearing Loss ◽  
Canal Stenosis ◽  
Ear Anomalies ◽  
Generation Sequencing

The bony cochlear nerve canal transmits the cochlear nerve as it passes from the fundus of the internal auditory canal to the cochlea. Stenosis of the cochlear nerve canal, defined as a diameter less than 1.0 mm in transverse diameter, is associated with inner ear anomalies and severe to profound congenital hearing loss. We describe an 11-month-old infant with nonsyndromic congenital sensorineural hearing loss with cochlear nerve canal stenosis. Next-generation sequencing revealed heterozygous mutations in MYH9 and MYH14, encoding for the inner ear proteins myosin heavy chain IIA and IIC. The patient’s hearing was rehabilitated with bilateral cochlear implantation.

Causes and Types of Sensorineural Hearing Loss. Clinical Manifestations and Basic Principles of Treatment

2020 ◽  
pp. 9-16
Author(s):  
Sergey Armakov
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Manifestations ◽  
Sensorineural Hearing ◽  
Doppler Imaging ◽  
Comprehensive Treatment ◽  
Impaired Hearing ◽  
Temporal Bones ◽  
The Brain

Sensorineural hearing loss is a disorder associated with the damage to the inner ear structures: the cochlea (cortical organ), dysfunctioning of the vestibule-cochlear nerve or the central part of the auditory analyser (brain stem and cortical representation of the cortical temporal lobe). In recent years, there has been a steady increase in ensorineural hearing loss patients; they account for ca. 70% among the total patients with impaired hearing. The disease has numerous causes and a complex pathogenesis. Among the main factors contributing to hearing loss are genetic predisposition, perinatal pathology, including hypoxia at childbirth, exposure to infectious and toxic agents and metabolic disorders, injuries (mechanical, acoustic and altitude trauma). Vascular-rheological disorders in the vertebro-basilar system play an important part because blood is supplied to the inner ear from the anterior inferior cerebellar artery. There are sudden, acute and chronic sensorineural hearing loss. The ensorineural hearing loss isdiagnosed by examinations that allow to verify the diagnosis and to determine the sound analyser damage level. This complex includes audiometric examinations, including the tuning fork examination, speech audiometry, and acoustic impedancemetry. If necessary, ultrasound Doppler imaging of the main blood vessels of the brain, computed tomography of the temporal bones, and MRI of the brain are prescribed. The pattern of comprehensive treatment should include, first of all, the elimination of the disease cause and anti-hypoxic drugs, anti-oxidants and a number of physiotherapy procedures.

Role of Computed Tomography and Magnetic Resonance Imaging in detecting the Prevalence of inner ear anomalies among cochlear implant candidates

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Alaa Nasser Hussain Zaher ◽  
Tougan Taha Abd El Aziz ◽  
Ahmed Samy Abdelrahman
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Hearing Loss ◽  
Cochlear Implant ◽  
Inner Ear ◽  
Resonance Imaging ◽  
High Resolution Computed Tomography ◽  
Vestibular Aqueduct ◽  
Incomplete Partition ◽  
Ear Anomalies

Abstract Background Hearing loss management using cochlear implants in patients with inner ear anomalies has long been discussed in the otology community. Magnetic resonances imaging (B,/IRI) and Computed tomography (CT) play important roles in the preoperative assessment of inner ear abnormalities such as cochlear nerve deficiency and variant anatomy as these abnormalities may not only affect the decision of the implantation procedure or the patient's prognosis regarding auditory improvement, but also the risk of complications. Objective To examine the prevalence of inner ear anomalies among cochlear implant recipients in patients with congenital sensorineural hearing loss among the pediatric age group in the Demerdash hospital, Ain Shams university using High resolution computed tomography (HRCT) and MRI imaging. Methods A retrospective descriptive study over the course of 9 months that included all patients that are candidates for cochlear implant referred to the Radiology department, Ain Shams University Hospitals for a preoperative imaging in the form of CT and VIRI scans. Results CT and MRI scans of 33 patients who had congenital hearing loss and were candidates for cochlear implantation with total 66 ears were reviewed. Inner ear anomalies were identified in 8 patients representing a prevalence (24.2%) with 14 ear diseased. Anomalies were seen bilaterally in 6 patients and unilaterally in 2 patients. Among the 14 diseased ear, 9 ears (64.3%) were seen with incomplete partition Il, 7 ears (50%) were seen with enlarged vestibular aqueduct, 4 ears (28.6%) were seen with cochlear hypoplasia, 3 ears (21.4%) were seen with semicircular canal aplasia, 2 ears (14.3%) were seen with incomplete partition type I, 2 ears (14.3%) were seen with cochlear nerve aplasia, 2 ears with cochlear aplasia (14.3%), I ear (7.1%) was seen with common cavity ear (7.1%) with complete labyrinthine aplasia. Conclusion Prevalence of inner ear anomalies among cochlear implant candidates was 24.2%. This result is consistent with results worldwide and the most common anomalies were Incomplete partition Il and large vestibular aqueduct. Abbreviations Computed tomography (CT), Magnetic resonance imaging (MRI), High resolution computed tomography (HRCT), Internal auditory canal (IAC), Cerebellopontine angle (CPA).

Inner Ear Anomalies and Conductive Hearing Loss in Children With Apert Syndrome

2009 ◽  
Vol 30 (2) ◽  
pp. 184-189 ◽  
Author(s):  
Guangwei Zhou ◽  
Lynn Thomas Schwartz ◽  
Quinton Gopen
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Conductive Hearing Loss ◽  
Apert Syndrome ◽  
Ear Anomalies ◽  
Conductive Hearing

scholarly journals Navigating Hereditary Hearing Loss: Pathology of the Inner Ear

2021 ◽  
Vol 15 ◽  
Author(s):  
Teresa Nicolson
Keyword(s):  
Hearing Loss ◽  
Animal Models ◽  
Inner Ear ◽  
Auditory System ◽  
Cranial Nerve ◽  
Hereditary Hearing Loss ◽  
Hearing Organ ◽  
Peripheral Auditory System ◽  
The Brain

Inherited forms of deafness account for a sizable portion of hearing loss among children and adult populations. Many patients with sensorineural deficits have pathological manifestations in the peripheral auditory system, the inner ear. Within the hearing organ, the cochlea, most of the genetic forms of hearing loss involve defects in sensory detection and to some extent, signaling to the brain via the auditory cranial nerve. This review focuses on peripheral forms of hereditary hearing loss and how these impairments can be studied in diverse animal models or patient-derived cells with the ultimate goal of using the knowledge gained to understand the underlying biology and treat hearing loss.

Ménière Recognizes That Vertigo Can Originate from the Inner Ear

2016 ◽  
Author(s):  
Robert W. Baloh
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Blood Vessels ◽  
Semicircular Canal ◽  
Semicircular Canals ◽  
Underlying Disease ◽  
The Brain ◽  
Benign Course

Prosper Ménière was the first clinician to conclude that vertigo can result from diseases of the inner ear. The symptom of vertigo originally fell under the rubric of apoplectiform cerebral congestion, a disorder thought to result from overfilling of blood vessels in the brain. Ménière noted that patients with vertigo and hearing loss associated with damage to the inner ear often have a benign course, and aggressive treatments such as bleeding can be more dangerous than the underlying disease. The first hint that the semicircular canals may be related to balance rather than hearing was provided by a Frenchman, Marie Jean Pierre Flourens. He systematically cut each semicircular canal in the pigeon and noted that the animal’s head and body tended to move in the plane of the damaged canal. The gyrations of the animals described by Flourens made Ménière think that vertigo in humans might be a similar phenomenon.

scholarly journals A Case of Perilymphatic Fistula with Inner Ear Anomaly Diagnosed Preoperatively by the Cochlin-Tomoprotein Detection Test

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Kana Lee ◽  
Naoki Ochi ◽  
Kohei Yamahara ◽  
Kunihiko Makino ◽  
Tetsuo Ikezono
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Inner Ear ◽  
Clinical Course ◽  
Sudden Hearing Loss ◽  
Sensorineural Hearing ◽  
Fistula Repair ◽  
Perilymphatic Fistula ◽  
Ear Anomalies ◽  
Inner Ear Anomaly

We present a case of perilymphatic fistula (PLF) with inner ear anomalies having sudden, progressive sensorineural hearing loss and describe the fistula repair surgeries. We focus on the diagnosis methods of PLF and clinical course of PLF with inner ear anomaly. The cochlin-tomoprotein (CTP) detection test is very useful for the surgeons to encourage the earlier operation to sudden hearing loss cases. It is also helpful to define the diagnosis of PLF after operation. We could not get the good result as to hearing from the fistula repair surgery mainly because surgery was held 1 month after the onset. The results of the case, as well as recommendations of other reports, suggest that patients with sudden sensorineural hearing loss and PLF may need repair surgery within at most 2 weeks from the onset. We describe how to diagnose PLF more accurately using CTP detection combined with intraoperative findings.

Pathology of Congenital Deafness

1980 ◽  
Vol 89 (5_suppl) ◽  
pp. 31-42 ◽  
Author(s):  
LaVonne Bergstrom
Keyword(s):  
Hearing Loss ◽  
Inner Ear ◽  
Genetic Disorders ◽  
Illustrative Case ◽  
Case Histories ◽  
Neonatal Life ◽  
Significant Incidence ◽  
Cytomegalic Inclusion Disease ◽  
Genetic Hearing Loss ◽  
Ear Anomalies

The pathology of congenital hearing loss is as varied as the etiologies. Severe external ear anomalies, such as microtia, and middle ear defects have a significant incidence of accompanying inner ear aplasias, more often of the vestibular than of the cochlear end-organs. Classic inner ear aplasias are discussed, including Michel, Mondini, Alexander and Scheibe. A case illustrating close resemblance between a genetically induced Scheibe malformation and rubella inner ear deformities is presented. A variety of ear disorders acquired during intrauterine or neonatal life, including cytomegalic inclusion disease, hypoxia, erythroblastosis fetalis and later-onset genetic disorders are also discussed. Illustrative case histories are presented as well as priorities for future investigations into the pathology of congenital and genetic hearing loss.

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