scholarly journals A case of Landau-Kleffner syndrome with SLC26A4-related hearing impairment

2022 ◽  
Vol 4 (1) ◽  
Author(s):  
Pan Gong ◽  
Xianru Jiao ◽  
Zhixian Yang
Keyword(s):  
Hearing Loss ◽  
Language Skills ◽  
Language Ability ◽  
Vestibular Aqueduct ◽  
Eeg Abnormalities ◽  
Antiepileptic Medications ◽  
Case Presentations ◽  
The Right ◽  
Electroencephalogram Eeg

Abstract Background Landau-Kleffner syndrome (LKS) is an acquired aphasia and electroencephalogram (EEG) abnormalities mainly in temporoparietal areas. SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aqueduct (EVA). Case presentations We report a case of LKS in a 5-year-old boy with non-syndromic EVA due to homozygous mutations of c.919-2A>G (IVS7-2A>G) in SLC26A4. He had normal language development before 2 years old. At the age of 2.5 years, he was admitted to the hospital due to remarkable language delay, and diagnosed with hearing loss with EVA. The seizures started at 4.4 years of age and EEG recording showed electrical status epilepticus during sleep (ESES) with a posterior-temporal predominance. He received cochlear implantation in the right ear at 4.7 years of age, which improved his hearing and language skills. The nocturnal focal motor seizures recurred at 4.9 years of age. Then a remarkable inability to respond to calls and reduction in spontaneous speech were noticed. He was treated with methylprednisolone at 5 years old, which controlled the seizures, suppressed ESES, and remarkably improved the language ability. The absence of seizures maintained until the last follow-up at 5.3 years of age, with further improvements in EEG recording and language ability. Conclusions The co-existence of LKS and hearing loss caused by SLC26A4 mutations increases the difficulty of LKS diagnosis, especially in the presence of hearing loss and impaired language skills. EEG discharges predominantly in temporoparietal areas, the occurrence of ESES, and language improvement after antiepileptic medications are potential indicators for LKS diagnosis.

scholarly journals Audiological findings of a patient with H syndrome: case report

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Diala Hussein ◽  
Büşra Altın ◽  
Münir Demir Bajin
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Aids ◽  
Auditory Brainstem Response ◽  
Pure Tone Audiometry ◽  
Auditory Brainstem ◽  
Sensorineural Hearing ◽  
Brainstem Response ◽  
The Right

Abstract Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among otologists, audiologists, and pediatricians about this syndrome and its audiological features. Case presentation An 8-year-old male with a diagnosed H syndrome registered to our clinic with a complaint of hearing loss. The patient was diagnosed with hearing loss in a different clinic using only the air-conducted click auditory brainstem response test which showed wave V at 60 dB nHL for the right ear and at 80 dB nHL for the left ear. The initially performed pure tone audiometry (PTA) test in our clinic revealed a bilateral asymmetric hearing loss with a moderate sensorineural hearing loss in the right ear and a profound mixed hearing loss in the left ear. The performed air conducted click auditory brainstem response (ABR) result showed wave V at 55 dB nHL for the right ear and at 70 dB nHL for the left ear. Then, the repeated PTA test revealed a mild-severe sensorineural sloping hearing loss in the right ear and a severe sensorineural hearing loss in the left ear. Conclusion Although hearing thresholds in H syndrome could be within normal limits in some patients, sensorineural hearing loss is an important characteristic feature for this syndrome. Sensorineural hearing loss could be progressive or of sudden onset and ranges from mild to profound. Thus, it must be taken into consideration to apply the audiological follow-up regularly and paying attention to the patient’s complaints; also, a regular follow-up for language development of children with H syndrome and for the hearing aids is advised.

scholarly journals Isolated Sensorineural Hearing Loss as a Sequela after Lightning Strike

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Mahfuz Turan ◽  
Ferhat Kalkan ◽  
Nazım Bozan ◽  
İsa Özçalimli ◽  
Mehmet Zeki Erdem ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Tympanic Membrane Perforation ◽  
Sensorineural Hearing ◽  
Lightning Strike ◽  
External Ear ◽  
Good Care ◽  
Membrane Perforation ◽  
The Right

In most of the surviving patients after a lightning strike, audiovestibular abnormalities have been reported. The most frequently reported type of abnormalities is a tympanic membrane perforation with hearing loss and external ear canal burn. However a sensor neural hearing loss and mixed type hearing loss can also occur, but these occur rarely. A nineteen-year-old female patient had, after a lightning strike, serious burns on the left ear, behind the ear, and on the chest and neck. She also had in her left ear 108 dB hearing loss with irregular central perforation and in her right ear 52 dB sensorineural hearing loss. There was no hearing loss before the strike. A hearing aid was recommended for the right ear and good care and follow-up were recommended for the left ear. A lightning strike can cause serious audiological damage. Therefore, it is necessary to make a careful audiovestibular evaluation of the patients. Although there exist rarely healed cases from sensorineural hearing loss after lightning strike in literature, in our case hearing loss occurred bilaterally and then it healed unilaterally. This condition is quite rare in literature.

scholarly journals Effect of Workplace Noise on Hearing Ability in Tile and Ceramic Industry Workers in Iran: A 2-Year Follow-Up Study

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Mehrdad Mostaghaci ◽  
Seyyed Jalil Mirmohammadi ◽  
Amir Houshang Mehrparvar ◽  
Maryam Bahaloo ◽  
Abolfazl Mollasadeghi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Noise Exposure ◽  
Hearing Threshold ◽  
Threshold Shift ◽  
Noise Induced Hearing Loss ◽  
Follow Up Study ◽  
Hearing Ability ◽  
The Right ◽  
Ceramic Workers

Introduction. Noise as a common physical hazard may lead to noise-induced hearing loss, an irreversible but preventable disorder. Annual audiometric evaluations help detect changes in hearing status before clinically significant hearing loss develops. This study was designed to track hearing threshold changes during 2-year follow-up among tile and ceramic workers.Methods. This follow-up study was conducted on 555 workers (totally 1110 ears). Subjects were divided into four groups according to the level of noise exposure. Hearing threshold in conventional audiometric frequencies was measured and standard threshold shift was calculated for each ear.Results. Hearing threshold was increased during 2 years of follow-up. Increased hearing threshold was most frequently observed at 4000, 6000, and 3000 Hz. Standard threshold shift was observed in 13 (2.34%), 49 (8.83%), 22 (3.96%), and 63 (11.35%) subjects in the first and second years of follow-up in the right and left ears, respectively.Conclusions. This study has documented a high incidence of noise-induced hearing loss in tile and ceramic workers that would put stress on the importance of using hearing protection devices.

scholarly journals Prospective longitudinal assessment of sensorineural hearing loss with hyperfractionated radiation therapy alone in patients with average-risk medulloblastoma

2014 ◽  
Vol 1 (3) ◽  
pp. 86-93
Author(s):  
Tejpal Gupta ◽  
Sarthak Mohanty ◽  
Sadhana Kannan, ◽  
Rakesh Jalali
Keyword(s):  
Hearing Loss ◽  
Radiation Therapy ◽  
Sensorineural Hearing Loss ◽  
Pure Tone ◽  
Average Risk ◽  
Hearing Thresholds ◽  
Platinum Based Chemotherapy ◽  
Hyperfractionated Radiation Therapy ◽  
The Right

AbstractBackgroundTo report on sensorineural hearing loss (SNHL) in a cohort of patients treated with hyperfractionated radiation therapy (HFRT) without upfront platinum-based chemotherapy in average-risk medulloblastoma.MethodsHearing thresholds were assessed by ear-specific pure-tone audiograms at stimulus frequencies of 0.25, 0.5, 1, 2, 4, and 8 kilohertz. Audiometric assessments were done serially longitudinally at baseline, between 6–12 months after HFRT, and annually thereafter. Pure-tone audiograms were analyzed and graded according to Brock pediatric ototoxicity grading criteria.ResultsFive of 20 (25%) children had communicatively and developmentally significant SNHL (Brock grade 2 or worse) even before starting radiotherapy. On follow-up, new-onset Brock grade 2 or worse ototoxicity was documented in 6 previously normal ears. Eleven patients had preserved hearing in both ears on last audiometric follow-up. Compared with baseline testing, post-HFRT audiometry at 2–3 years showed modest decline in hearing threshold across all frequencies. Age at diagnosis and sex did not significantly impact hearing, while higher cochlear doses trended towards worse hearing outcomes. Tumors that extended more towards one side expectedly showed significant worsening in the ipsilateral ear. There was a differential impact of treatment on the right and left ears with the right ear (and not the left ear) showing significantly worse hearing thresholds in the low-to-intermediate speech frequency range over time.ConclusionThe use of HFRT for craniospinal irradiation and conformal tumor bed boost without upfront platinum-based chemotherapy in children with average-risk medulloblastoma results in preserved hearing in a large proportion of patients in the audible speech range.

scholarly journals Electrophysiological Threshold Evaluation in Infants with and Without Risk Indicators for Hearing Loss

2020 ◽  
pp. 1-4
Author(s):  
Georgea Espindola ◽  
Daniela Polo Camargo Silva ◽  
Georgea Espindola
Keyword(s):  
Hearing Loss ◽  
Public Hospital ◽  
Evoked Potential ◽  
Auditory Evoked Potential ◽  
Risk Indicators ◽  
Moderate Degree ◽  
Brainstem Auditory Evoked Potential ◽  
The Right ◽  
Development Objective

Introduction: The brainstem auditory evoked potential is used to determine the electrophysiological threshold and assessing the integrity of the auditory system. This test is sensitive to the auditory nerve maturation and brainstem; therefore, the electrophysiological threshold may change throughout child development. Objective: to evaluate the changes in the electrophysilogical threshold of brainstem auditory evoked potential in two months of follow-up. Methods: A single non-concurrent cohort study was performed in a public hospital during January 2013 to January 2015. The brainstem auditory evoked potential was performed in all neonates in two moments with electrophysiological thresholds measured in the both ears, whose results were categorized into degree: mild, moderate, severe and profound. Results: Forty-three infants of both genders, 11 with prematurity and 14 with risk indicators for hearing loss participated in the study. In the first brainstem auditory evoked potential, with an average age of two months, 34 infants had abnormal results in the right ear and 31 in the left ear. In the second brainstem auditory evoked potential, with na average age of four months, normalization was observed in 38% of the results obtained in the right ear and in 42% on the left ear. This significant change in brainstem auditory evoked potential thresholds was found in those with mild and moderate degrees. Conclusion: There were changes in the electrophysiological brainstem auditory evoked potential thresholds in infants with a mild and moderate degree, while those with a severe and profound degree the results were permanet at two months of follow-up.

scholarly journals When is a Vestibular Aqueduct Enlarged?

2018 ◽  
Vol 27 (2) ◽  
pp. 35-36
Author(s):  
Nathaniel W. Yang
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Temporal Bone ◽  
Ct Imaging ◽  
Sensorineural Hearing ◽  
Normative Values ◽  
Vestibular Aqueduct ◽  
Radiographic Parameters ◽  
Clinically Significant ◽  
The Right

A ten-year-old boy with bilateral moderate sensorineural hearing loss underwent computerized tomographic (CT) imaging (GE Brightspeed, Wisconsin, USA) of the temporal bone as part of the work-up to determine the etiology of his condition. The formal radiologic interpretation of the scan stated that the vestibular aqueducts were not enlarged. However, independent review of the axial CT images appeared to indicate the presence of enlarged vestibular aqueducts. (Figure 1) This can be   contrasted with a scan from another patient with no evidence of sensorineural hearing loss. (Figure 2) What can explain the discrepancy between the two?   If simple visual inspection of the vestibular aqueduct (VA) can lead to conflicting interpretations, then what radiographic parameters can be used to resolve the issue? Is there a more objective means of determining the presence of a clinically significant vestibular aqueduct enlargement?   In 1978, Valvasorri and Clemis1 first described an association between congenital sensorineural hearing loss and an abnormality in vestibular aqueduct anatomy which they labelled as the “large vestibular aqueduct syndrome.” In this landmark study that utilized hypocycloidal polytomographic temporal bone studies, they proposed that a vestibular aqueduct is enlarged when its midpoint diameter is greater than 1.5 mm.  Although this parameter is generally considered to be the defining characteristic of the condition, one must realize that this measurement was based on less accurate imaging technology and measurement tools. Contemporary studies utilize high-resolution CT imaging with digital workstation measurement software to evaluate vestibular aqueduct anatomy. Currently, the two most commonly used radiographic parameters are the VA midpoint (MP) width and the VA opercular (OP) width. (Figure 3) More recently, Boston et al.2 in 2007 published normative values for these parameters based on a study population of 73 children without known sensorineural hearing loss. They considered a vestibular aqueduct enlarged when one or both of the measured widths were above the 95th percentile of the normal study group measurements. On this basis, a VA midpoint width of >0.9 mm and/or a VA opercular width of >1.9 mm was the criteria established to define an enlarged vestibular aqueduct.   The patient’s measured vestibular aqueduct midpoint width on the right was 2.1 mm, while the vestibular aqueduct opercular width was 2.9 mm. (Figure 4) These measurements, when evaluated against either the original Valvassori criteria or the newer criteria of Boston et al., confirm what was visually apparent– the presence of a clinically significant enlargement of the vestibular aqueduct as the etiology of the patient’s sensorineural hearing loss.  

Counseling Adolescents With Hearing Loss Using a Narrative Therapy Approach

2009 ◽  
Vol 19 (2) ◽  
pp. 72-78
Author(s):  
Rebecca L. Nelson Crowell ◽  
Julie Hanenburg ◽  
Amy Gilbertson
Keyword(s):  
Hearing Loss ◽  
Process Evaluation ◽  
Narrative Therapy ◽  
Daily Life ◽  
Hearing Aid ◽  
Self Esteem ◽  
Therapy Approach ◽  
Self Worth ◽  
Counseling Adolescents

Abstract Audiologists have a responsibility to counsel patients with auditory concerns on methods to manage the inherent challenges associated with hearing loss at every point in the process: evaluation, hearing aid fitting, and follow-up visits. Adolescents with hearing loss struggle with the typical developmental challenges along with communicative challenges that can erode one's self-esteem and self-worth. The feeling of “not being connected” to peers can result in feelings of isolation and depression. This article advocates the use of a Narrative Therapy approach to counseling adolescents with hearing loss. Adolescents with hearing loss often have problem-saturated narratives regarding various components of their daily life, friendships, amplification, academics, etc. Audiologists can work with adolescents with hearing loss to deconstruct the problem-saturated narratives and rebuild the narratives into a more empowering message. As the adolescent retells their positive narrative, they are likely to experience increased self-esteem and self-worth.

The Occlusion Effect in Unilateral Functional Hearing Loss

1970 ◽  
Vol 13 (1) ◽  
pp. 37-40
Author(s):  
Gary Thompson ◽  
Marie Denman
Keyword(s):  
Hearing Loss ◽  
Bone Conduction ◽  
Low Frequency ◽  
Clinical Implications ◽  
The Right ◽  
Occlusion Effect

Bone-conduction tests were administered to subjects who feigned a hearing loss in the right ear. The tests were conducted under two conditions: With and without occlusion of the non-test ear. It was anticipated that the occlusion effect, a well-known audiological principle, would operate to draw low frequency bone-conducted signals to the occluded side in a predictable manner. Results supported this expectation and are discussed in terms of their clinical implications.

Hearing Outcome of Stapes Surgery in NIENT, Bangladesh

2020 ◽  
Vol 26 (1) ◽  
pp. 31-36
Author(s):  
Md Zakaria Sarkar ◽  
AHM Ferdows Nur ◽  
Utpal Kumar Dutta ◽  
Muhammad Rafiqul Islam ◽  
Debabrota Roy ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cross Sectional Study ◽  
Surgical Trauma ◽  
Group 14 ◽  
Progressive Hearing Loss ◽  
Cross Sectional ◽  
Hearing Gain ◽  
Hearing Outcome

Objective: The aim of this study was to evaluate hearing outcome after stapedotomy in patients with Otosclerosis. Methods: This cross sectional study was carried out from July 2017 to January 2019 in National Institute of ENT, Unit V. About 22 patients with Otosclerosis were included in this study. Diagnosis of Otosclerosis was based on the history, medical status with Otoscopy, Tuning fork tests and Audiometric tests. We compiled data on the pre and post operative air-bone gap (ABG) at 0.5, 1, 2 KHZ. The ABG was Calculated using AC and BC thresholds on the same audiogram. Post operative hearing gain was then Calculated from the ABG before the operation minus the ABG of the last follow up examination Results: In this study most of the cases were age group 14-30 years (72.7%), female (54.5%). Most common symptoms was progressive hearing loss, tinnitus (77.8%).The average preoperative hearing loss in this study was (AC) was 48.31±7.68. The average post opt. hearing (AC) at follow up was 28.95±10.30 with an average hearing gain of 15.40±8.53 dB which was significant. The average pre-operative ABG was 28.99 dB ± 8.10. The average post opt. ABG was analyzed at 1 follow up showed ABG 13.18±8.09 dB which was found to be significant. Conclusion: Stapedotomy is an effective surgical procedure for the treatment of otosclerosis which leads to improvement in patient’s quality of life. A favorable hearing outcome can be obtained by the combination of experienced hands with minimal surgical trauma and appropriate surgical technique. Bangladesh J Otorhinolaryngol; April 2020; 26(1): 31-36

CASE REPORT: SURGICAL MANAGEMENT OF LUMBAR COMPRESSION FRACTURE

2019 ◽  
Vol 1 (4) ◽  
Author(s):  
Yustinus Robby Budiman Gondowardojo ◽  
Tjokorda Gde Bagus Mahadewa
Keyword(s):  
Spinal Cord ◽  
Left Lung ◽  
Lumbar Vertebrae ◽  
Compression Fracture ◽  
High Mobility ◽  
Early Mobilization ◽  
Cord Injury ◽  
Cardiothoracic Surgeon ◽  
The Right

The lumbar vertebrae are the most common site for fracture incident because of its high mobility. The spinal cord injury usually happened as a result of a direct traumatic blow to the spine causing fractured and compressed spinal cord. A 38-year-old man presented with lumbar spine’s compression fracture at L2 level. In this patient, decompression laminectomy, stabilization, and fusion were done by posterior approach. The operation was successful, according to the X-Ray and patient’s early mobilization. Pneumothorax of the right lung and pleural effusion of the left lung occurred in this patient, so consultation was made to a cardiothoracic surgeon. Chest tube and WSD insertion were performed to treat the comorbidities. Although the patient had multiple trauma that threat a patient’s life, the management was done quickly, so the problems could be solved thus saving the patient’s life. After two months follow up, the patient could already walk and do daily activities independently.

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