Bilateral Sensorineural Hearing Loss Research Articles

Bilateral vestibular schwannoma with a cooccurring meningioma in a child: A case report and review of literature

Introduction: Meningioma and Vestibular Schwannoma (VS) are the first and second most common benign Central Nervous System (CNS) tumors. The coexistence of VS and meningioma presents a rare clinical scenario, particularly in pediatric patients. This report presents a case of bilateral Vestibular Schwannoma with a cooccurring Meningioma in in a Nepali child and provides an overview of the literature on this condition. Case Report: A 15-year-old male presented with bilateral sensorineural hearing loss, seizures, and neurological deficits and was ultimately diagnosed with concomitant bilateral acoustic neuroma and meningioma. The patient underwent radiosurgery for bilateral vestibular schwannoma and non-operative management of the meningioma. Long-term follow-up revealed symptomatic improvement, emphasizing the importance of a multidisciplinary approach in managing such complex cases. The management of these tumors requires tailored treatment strategies guided by tumor characteristics and associated risks. Discussion: Meningioma and vestibular schwannoma are common tumors of the CNS. Their coexistence is possible in Neurofibromatosis type 2 (NF2) but is exceedingly rare in pediatric age group. The tumors, often coexisting, pose diagnostic challenges. Diagnosis relies on clinical and genetic features, with multidisciplinary management involving various specialists. Treatment aims to preserve function and quality of life, utilizing approaches such as bevacizumab and surgical intervention. The role of radiation therapy remains uncertain. Genetic testing and regular monitoring are vital for early detection and intervention. Conclusion: The co-occurrence of acoustic neuromas and meningiomas is poorly understood, with limited reported cases and unclear pathophysiological mechanisms. Further research into the genetic and molecular mechanisms underlying the coexistence of these tumors is needed to optimize patient outcomes in this rare clinical entity.

Towards Comprehensive Newborn Hearing and Genetic Screening in Russia: Perspectives of Implementation

The universal newborn hearing screening (NHS) program was implemented in Russia in 2008 to replace the high-risk newborn hearing screening. More than 95% coverage and significant improvement in early detection and intervention is achieved. Meanwhile, it was shown that current OAE-based hearing screening missed 13% of newborns with genetically ascertained hereditary sensorineural hearing loss (SNHL). The aim of the study is to assess the results of genetic investigation and NHS in a large cohort of Russian children with bilateral SNHL and to study the feasibility of implementation of combined hearing and genetic screening in Russia. Genetic, audiological and NHS data of 1292 pediatric patients with bilateral SNHL born in 2008–2021 were analyzed. GJB2 sequencing was performed for all subjects, 644 patients had pathological GJB2 genotype, 406 of them were homozygous for c.35delG variant. The group of 155 GJB2-negative patients were searched for other SNHL genes, The pathological genotypes were identified at 87 patients. The most frequent genes were STRC (21.8%), USH2A (16.1%), OTOF (8%) and SLC26A4 (6.9%). Children with confirmed genetic etiology passed NHS in 21% of cases. The perspectives of implementation of national comprehensive newborn hearing and genetic screening including whole exome sequencing technologies are discussed.

A case of osteogenesis imperfecta diagnosed after subchondral insufficiency fracture of bilateral femoral heads.

Osteogenesis imperfecta (OI) is a heterogeneous disorder characterised by bone fragility. Herein, we report a case of OI diagnosed after subchondral insufficiency fracture (SIF) of bilateral femoral heads. A 37-year-old woman was referred to Saitama Medical University Hospital due to left hip pain without any trauma that lasted for 2 months. She was subsequently diagnosed with SIF of the left femoral head. After 3 months, she further developed SIF of the right hip without any trauma. Magnetic resonance imaging of the bilateral hips showed linear low-signal changes of the subchondral bone and bone marrow oedema of the femoral head on T2-weighted coronal and sagittal images, diagnosing of both SIFs. The bone mineral density was 0.851 g/cm2 (T-score, -1.3) at the lumbar spine, 0.578 g/cm2 (T-score, -1.9) at the right femoral neck, and 0.582 g/cm2 (T-score, -1.9) at the left femoral neck. Considering that the patient had multiple histories of fracture, blue sclera, and mild bilateral sensorineural hearing loss, she satisfied the diagnostic criteria for OI. Genetic testing revealed a mutation in COL1A1 (NM_000088.3, c.3806G>A: p. Trp1269*). After 7 months of conservative therapy, her symptoms improved. After 4 years, both hips were pain-free with no evidence of osteoarthritis progression. OI can result in insufficiency fractures due to bone fragility in adolescence and adulthood or later, and none of the cases of OI, except for the current case, were diagnosed as a result of bilateral SIF.

Sudden sensorineural hearing loss related to Streptococcus suis meningitis

Background: Streptococcus suis meningitis is caused by Streptococcus suis, gram positive bacteria which is a pathogen mainly in pigs. It is an emerging zoonosis globally with highest incidence in Southeast Asia. The main risk factors are contact with infected pigs and consumption of raw or moderately cooked pork. Bilateral sudden sensorineural hearing loss is a remarakable symptom in this disease. Early initiation of antibiotic and systemic corticosteroids is recommended to improve clinical outcome and reduce complications. Even so, despite adequate treatment, sensorineural hearing loss related to S. suis meningitis is usually irreversible. We report two male patients consulted to otorhinolaryngology department regarding decreased hearing in both ears. Both patients was previously admitted because of altered mental status, accompanied with fever and headache. History of eating traditional Balinese pork dish before the onset was noted. Pure-tone audiometry revealed bilateral sensorineural hearing loss in both patients. Diagnosis of S. suis meningitis was established and treatment was prompted. Clinically, both patients showed improvement but evaluation audiometry showed no remarkable improvement in hearing threshold. Therefore, transmission avoidance, infection prevention, hygiene practice and educational activities are essential.

Early-stage use of hearing aids preserves auditory cortical structure in children with sensorineural hearing loss.

Hearing is critical to spoken language, cognitive, and social development. Little is known about how early auditory experiences impact the brain structure of children with bilateral sensorineural hearing loss. This study examined the influence of hearing aid use and residual hearing on the auditory cortex of children with severe to profound congenital sensorineural hearing loss. We evaluated cortical preservation in 103 young pediatric cochlear implant candidates (55 females and 48 males) by comparing their multivoxel pattern similarity of auditory cortical structure with that of 78 age-matched children with typical hearing. The results demonstrated that early-stage hearing aid use preserved the auditory cortex of children with bilateral congenital sensorineural hearing loss. Children with less residual hearing experienced a more pronounced advantage from hearing aid use. However, this beneficial effect gradually diminished after 17months of hearing aid use. These findings support timely fitting of hearing aids in conjunction with early implantation to take advantage of neural preservation to maximize auditory and spoken language development.

Scrub Typhus with Bilateral Sensorineural Hearing Loss: A Rare Presentation

Scrub Typhus with Bilateral Sensorineural Hearing Loss: A Rare Presentation

Functional outcomes for speech-in-noise intelligibility of NAL-NL2 and DSL v.5 prescriptive fitting rules in hearing aid users.

The primary aim of this research study is to assess whether differences exist in the application of the NAL-NL2 and DSL v.5 prescription formulas in terms of speech-in-noise intelligibility. Data from 43 patients, were retrospectively evaluated and analyzed. Inclusion criteria were patients with bilateral conductive, sensorineural, or mixed hearing loss, already using hearing aids for at least 1year, and aged 18years or older. Patients were categorized into two groups based on the prescriptive method employed by the hearing aid: NAL-NL2 or DSL v.5. Pure tone audiometry, speech audiometry, free field pure tone and speech audiometry withthehearing aid, and Matrix sentence test were performed. The Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire was used to assess the personal audiological benefit provided bythe hearing aid. No statistically significant differences were found comparing the free-field pure tone average (FF PTA) and the free-field Word Recognition Score (FF WRS). Comparing the Speech Reception Threshold (SRT) parameter of patients with NAL-NL2 vs DSL v.5, no statistically significant difference was found, thus highlighting a condition of comparability between the two prescription methods in terms of speech-in-noise intelligibility. Comparing the results of the APHAB questionnaire, no statistically significant differences were evident for all subscales and overall benefit. When conducting a comparison between male and female patients using the NAL-NL2 method, no differences were observed in SRT values, however, the APHAB questionnaire revealed a difference in the AV subscale score for the same subjects. Our analysis revealed no statistically significant differences in speech-in-noise intelligibility, as measured by the SRT values from the Matrix Sentence Test, when comparing the two prescriptive methods. This compelling result reinforces the notion that, functionally, both methods are comparably effective in enhancing speech intelligibility in real-world, noisy environments. However, it is crucial to underscore that the absence of differences does not diminish the importance of considering individual patient needs and preferences in the selection of a prescriptive method.

Bilateral Sudden Sensorineural Hearing Loss

Bilateral Sudden Sensorineural Hearing Loss

Diagnostic neuromuscular ultrasound to confirm clinical significance of a genetic variant for Charcot-Marie-Tooth type 4C: A case report.

Neuromuscular ultrasound (NMUS) has emerged as a beneficial, complementary tool to EMG in the diagnosis of neuromuscular diseases as it provides high-resolution anatomic imaging of peripheral nerves and muscles. It has been used previously as an adjunct to EMG to diagnose Charcot-Marie-Tooth disease (CMT). Here, we present a case of a 64-year-old male with bilateral sensorineural hearing loss of 14 years who presented to an outpatient neuromuscular clinic at a tertiary medical center with very slow progressive paresthesias. This case highlights the application of NMUS to help confirm the presence of a likely CMT type 4C despite indeterminate genetic testing results and challenging EMG results. He had genetic testing which revealed a normal PMP22 gene; however, he had a variant of uncertain significance (VUS) in the SH3TC2 gene which has shown associations with autosomal recessive CMT4C. NMUS revealed mild median and significant tibial nerve uniform enlargement throughout their course. There may also be utility in performing NMUS on similarly affected family members if the same VUS returns for SH3TC2, with consideration of both peripheral nerve and nerve root assessment.

The cost evaluation of day-case compared to inpatient cochlear implantation in adults: subanalysis of a randomized controlled trial.

To investigate the assumption that day-case cochlear implantation is associated with lower costs, compared to inpatient cochlear implantation, while maintaining equal quality of life (QoL) and hearing outcomes, for the Dutch healthcare setting. A single-center, non-blinded, randomized controlled trial in a tertiary referral center. Thirty adult patients with post-lingual bilateral sensorineural hearing loss eligible for unilateral cochlear implantation surgery were randomly assigned to either the day-case or inpatient treatment group (i.e., one night admission). We performed an intention-to-treat evaluation of the difference of the total health care-related costs, hospital and out of hospital costs, between day-case and inpatient cochlear implantation, from a hospital and patient perspective over the course of one year. Audiometric outcomes, assessed using CVC scores, and QoL, assessed using the EQ-5D and HUI3 questionnaires, were taken into account. There were two drop-outs. The total health care-related costs were €41,828 in the inpatient group (n = 14) and €42,710 in the day-case group (n = 14). The mean postoperative hospital stay was 1.2 days (mean costs of €1,069) in the inpatient group and 0.7 days (mean costs of €701) for the day-case group. There were no statistically significant differences in postoperative hospital and out of hospital costs. The QoL at 2 months and 1 year postoperative, measured by the EQ-5D index value and HUI3 showed no statistically significant difference. The EQ-5D VAS score measured at 1 year postoperatively was statistically significantly higher in the inpatient group (84/100) than in the day-case group (65/100). There were no differences in postoperative complications, objective hearing outcomes, and number of postoperative hospital and out of hospital visits. A day-case approach to cochlear implant surgery does not result in a statistically significant reduction of health care-related costs compared to an inpatient approach and does not affect the surgical outcome (complications and objective hearing measurements), QoL, and postoperative course (number of postoperative hospital and out of hospital visits).

Prognosis of Bilateral Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-Analysis.

To comprehensively examine the characteristics and prognosis of bilateral sudden sensorineural hearing loss (BSSHL) and its subtypes compared to unilateral sudden sensorineural hearing loss (USSHL). PubMed, Scopus, and CINAHL. Databases were searched from inception to December 5, 2023, for studies reporting patient characteristics and audiometric outcomes for BSSHL and its simultaneous (Si-BSSHL) and sequential (Se-BSSHL) subtypes. Meta-analysis of continuous measures, proportions (%), mean differences (Δ), and odds ratio (OR) were performed. Eleven studies were included, consisting of 368 patients with BSSHL and 2,705 patients with USSHL. The pooled prevalence among all SSHL cases was 88.1% (95% CI: 81.2%-93.6%) for USSHL and 11.9% (95% CI: 6.4% to 18.8%) for BSSHL. PTA improvement following treatment with steroids was significantly worse in patients with BSSHL (Δ15.3 dB; 95% CI: 14.6 to 15.9; p < 0.0001) compared to patients with USSHL. There was no significant difference in post-treatment PTA improvement between the BSSHL subtypes. Patients with Si-BSSHL were significantly less likely to have an idiopathic etiology (OR: 0.4; 95% CI: 0.2 to 0.8; p = 0.01) and significantly more likely to have an autoimmune disease etiology (OR: 27.4; 95% CI: 2.2 to 336.1; p = 0.01), comorbid cardiovascular disease (OR: 2.3; 95% CI: 1.1 to 5.1; p = 0.03), and comorbid hypertension (OR: 2.5; 95% CI: 1.6 to 3.8; p < 0.0001) compared to patients with USSHL. BSSHL is a considerably rarer form of SSHL with worse prognosis compared to USSHL. BSSHL, and Si-BSSHL in particular, has significantly greater associations with systemic pathologies compared to USSHL. Laryngoscope, 2024.

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.

Heimler syndrome (HS) is a rare disorder that includes sensorineural hearing loss (SNHL), nail abnormalities, and enamel hypoplasia. Patients with this syndrome can also exhibit ocular manifestations. At present, only a few cases of HS have been reported, existing knowledge of this syndrome is limited, and many cases have been misdiagnosed or even missed. This is the first report of Heimler syndrome with blurred vision as the first complaint, which was diagnosed by genetic analysis in the ophthalmology department. An 8-year-old girl complained of bilateral visual blur and night blindness from birth. Ophthalmic examinations revealed bilateral retinitis pigmentosa with cystoid macular edema, visual impairment with hyperopia and astigmatism. Hearing test revealed bilateral severe sensorineural hearing loss. Dental examinations revealed enamel hypoplasia. In addition, whole-exome sequencing (WES) identified two pathogenic variants in PEX1: the previously reported missense variant c.2966T > C (p.I989 T), and the novel frameshift variant c.1671_1672del (p.G558Sfs*33). Heimler syndrome is caused by compound heterozygous PEX1 pathogenic variants, c.2966T > C (p.I989 T) and c.1671_1672del (p.G558Sfs*33), which contributed to the diversity of clinical and genetic profiles in this patient. The main clinical manifestations include bilateral retinitis pigmentosa with cystoid macular edema, sensorineural hearing loss, and enamel hypoplasia. Systemic examinations are suggested for patients suspected of having pigmentary retinal dystrophy, especially combined with hearing-related impairments. Genetic testing can help us to make a definitive diagnosis.

Experiencia clínica con el implante coclear Nurotron™ en una población postlingual hispanohablante: seguridad clínica y resultados audiólogicos

Objectiveto assess clinical safety and postoperative audiological outcomes in postlingual deafness Spanish speaking patients, who underwent surgery with Nurotron™ cochlear implant. Material and MethodsRetrospective descriptive case series study. We performed follow-up of complications and audiological measurements before and after cochlear implantation. Patients with bilateral severe to profound sensorineural hearing loss or patients with unilateral deafness with/without tinnitus were included. Repeated-measures within-subjects for assess pure tone thresholds and speech performance (bilingual test) with a detailed monitoring to establish security or adverse effects were performed. Analysis of variance tests, repetitive measures, were used for statistical analysis. Results31 patients were included, 17 (54.8%) men and 14 (45.2%) women. Mean age at the time of surgery was 49.82 ± 18.8 years. The mean follow-up of the group was 31.56 ± 9.57 months (minimum = 19.6 months and maximum = 52.50months). As major complication one patient (3.23%) had a hard failure that required removal and re-implantation. 25.8% of the patients presented minor complications, the most frequent being vertigo/unsteadiness in 22.6%.The mean of language discrimination (free field at 65 dB SPL) was 62.19% ± 16.66; being 69.82% ± 7.35 in the group of severe to profound bilateral sensorineural hearing loss. A statistically significant reduction was observed in patients with tinnitus, assessed using the visual analog scale, preoperative = 7.2 ± 1,6 vs postoperative (18 months postoperative) = 1.7 ± 1.3 (p < 0.001). ConclusionsThe Nurotron™ cochlear implant shows satisfactory audiological results, in accordance with what has been reported in the literature. Minor complications were similar to previous studies, but the percentage of hard failure should continue to be observed, which was higher than other reports with comparable follow-up.

The Hearing of Erastus "Deaf" Smith, Hero of the Texas Revolution.

To describe the speech and hearing abilities of Erastus "Deaf" Smith, the first Texas Ranger, and speculate on the etiology of his hearing loss. Review of credible historical data of what Erastus could and could not hear, descriptions of his voice, and loudness tolerance. Modern analysis of acoustical physics data generated by 0.69-inch diameter non-spinning musket balls. The onset of Erastus' bilateral hearing loss was early childhood. He could hear some. He was intolerant of very loud sounds. His speech was "weak", "squeaky" and high-pitched. He did not use manual communication. He could not hear musket balls passing near his head. The frequency of sound generated by flying 0.69-inch diameter musket balls has been determined as predominantly in the range of 2000-2500 Hz. In contrast to most bilateral childhood sensorineural hearing losses that are worse in high and mid frequencies, Erastus' hearing loss was worse in the low and mid frequencies - preserving at least some high-frequency hearing. Erastus' reverse-slope hearing problem may well have been attributable to incomplete partition type III. If you can't hear it, you can't speak it. NA Laryngoscope, 2024.

Contribution of fetal blood sampling to determining the prognosis of congenital cytomegalovirus infections: a case-cohort study in Switzerland

Cytomegalovirus is responsible for the most common congenital infection, affecting 0.5% to 1.0% of live births in Europe. Congenital cytomegalovirus infection can be diagnosed during pregnancy by viral DNA amplification in the amniotic fluid, but the prognosis of fetuses without severe brain abnormalities remains difficult to establish on the basis of prenatal imaging alone. To identify predictors of moderate to severe symptomatic cytomegalovirus infection among fetal blood parameters and to propose an algorithm on the basis of these parameters and on prenatal imaging that would provide the best positive and negative predictive values. Fetal blood sampling at 21-28 weeks gestation was performed in fetuses with congenital cytomegalovirus infection confirmed by amniocentesis after maternal infection in the first-trimester or periconceptional period. We compared the levels of hemoglobin, thrombocytes, γ-glutamyl transpeptidase, aspartate aminotransferase, alanine aminotransferase, β2-microglobulin, immunoglobulins G and M, and cytomegalovirus DNA viral loads in amniotic fluid and fetal blood between those with moderate to severe symptomatic infection and those with asymptomatic to mild infection (median follow-up of 36 months for live births). Among 58 fetuses included, 25 (43%) had a moderate to severe symptomatic infection: 16 with severe cerebral abnormalities, 5 with multiple signs or symptoms at birth, 2 with bilateral sensorineural hearing loss, and 2 with neurodevelopmental delay. The values of thrombocytes, aspartate aminotransferase, β2 microglobulin, Immunoglobulin M, and cytomegalovirus viral loads differed significantly between fetuses with moderate to severe symptomatic infection and those with asymptomatic to mild infection. The optimal strategy to predict moderate to severe symptomatic infection was to first perform fetal brain imaging, followed by fetal blood sampling with the following cutoffs: thrombocytes <120,000/mL, viremia ≥5 log10/mL, and β2 microglobulin ≥12 mg/L). This recursive algorithm had a negative predictive value of 100% for moderately to severely symptomatic infection. The combination of thrombocytes, β2-microglobulin, and cytomegalovirus viral load in fetal blood can be used for prognosis determination, particularly in cytomegalovirus-infected fetuses without severe brain abnormalities at the time of prenatal diagnosis. Future studies should evaluate whether these parameters remain useful in infected fetuses who have been treated with valacyclovir before fetal blood sampling.

Polymerase and Proofreading Exonuclease Domains in the DNA Polymerase γ and Nuclear-encoded RNA Polymerase of the Human Mitochondria and Identification of Mitochondrial Disease Mutations in the Polymerase Active Site Region of DNA Polymerase γ

Recent reports have made it clear that mutations in the mitochondrial DNA (mtDNA) polymerase γ (POLG1) are a major cause of many human diseases. Mutations in the mtDNA polymerase leads to defective oxidative phosphorylation and ATP production, resulting in many mitochondrial diseases. For their mitochondrial genome replication, humans and animals use POLG1, whose catalytic site is essentially similar to the E. coli DNA polymerase I (DNA pol I). Multiple sequence alignment (MSA) analysis have shown that the POLG1 and E. coli DNA pol I use identical amino acids in their polymerase catalytic sites, viz. –943R-4EHAKI1FNYGRI955Y8G- (human DNA pol γ) as –R-4RSAKA1INFGLIY8G- (E. coli DNA pol I). However, the human POLG1 shows only 31.25% identity with the E. coli DNA pol I, suggesting a highly divergent evolution. Mutation(s) in the POLG1 gene is one of the most common causes of many inherited mitochondrial diseases in children and adults. Depending on their location within the enzyme, mutations either lead to mtDNA depletion or accumulation of multiple mtDNA deletions leading to various mitochondrial diseases. The most common POLG1 dominant mutation, viz. Y955→H/C, which lead to a severe, early-onset of multi-systemic mitochondrial disease with bilateral sensorineural hearing loss, cataract, myopathy, and liver failure is located in the template-binding pair of the polymerase catalytic site region by MSA. Another dominant mutation, R943→H/C is observed in patients with Progressive External Ophthalmoplegia (adPEO, an autosomal, dominant, heritable mitochondrial disorder) is located in the nucleoside triphosphate (NTP) selection amino acid in the polymerase catalytic site region. The nuclear-encoded RNA polymerase (NEP) is imported from the nucleus and involves in the transcription of all the mitochondrial genes. The human mitochondrial NEP showed 39.30%, 40.12% and 26.98% identities to the NEPs of the mitochondria and chloroplasts of Arabidopsis thaliana, and T7 RNA polymerase, respectively, suggesting that the human and plant mitochondrial NEPs are distinctly different. Interestingly, the human NEP’s catalytic core is almost completely conserved in the plant mitochondrial and chloroplast NEPs, viz. –R-4KVVKQ1TVMTVVY8G- (Human) and –R-4KLVKQ1TVMTSVY8G- (A. Thaliana). Furthermore, the mitochondrial NEP’s catalytic core from human and different animal sources is remarkably conserved and is in close agreement with other NEPs of plant sources. Both the human DNA pol γ and NEP possess a typical template-binding pair (-YG-), a basic catalytic amino acid (K) to initiate catalysis and a basic nucleotide selection amino acid R at -4 from the catalytic K. The PR exonucleases of POLG1 and NEP belong to the DEDD-superfamily of exonucleases and uses a Y or H as the proton acceptor, respectively.

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes that have been discovered in studies involving small and large HL families. Over one-third of families with hereditary HL remain etiologically undiagnosed after screening for mutations in the recognized genes. Genetic heterogeneity complicates the analysis in multiplex families where variants in more than one gene can be causal in different individuals even in the same sibship. We employed exome or genome sequencing in at least two affected individuals with congenital or prelingual-onset, severe to profound, non-syndromic, bilateral sensorineural HL from four multiplex families. Bioinformatic analysis was performed to identify variants in known and candidate deafness genes. Our results show that in these four families, variants in a single HL gene do not explain HL in all affected family members, and variants in another known or candidate HL gene were detected to clarify HL in the entire family. We also present a variant in TOGARAM2 as a potential cause underlying autosomal recessive non-syndromic HL by showing its presence in a family with HL, its expression in the cochlea and the localization of the protein to cochlear hair cells. Conclusively, analyzing all affected family members separately can serve as a good source for the identification of variants in known and novel candidate genes for HL.

Langerhans cell histiocytosis involving the temporal bone with destruction and subsequent reossification of the bony labyrinth boundaries.

With an incidence between 1-9/100 000 per year, Langerhans cell histiocytosis (LCH) is a rather rare disease from the hemato-oncologic disease spectrum (Hayes et al. 2009). The tumorlike disease with proliferation of histiocytic cells may manifest as localized to one organ or disseminated with infiltration of a wide variety of organs. Approximately 25-30 % of these cases show involvement of the temporal bone (Ni et al. 2017). With vertigo persisting for three years, chronic mastoiditis, and acute progressive hearing loss bilaterally (r > l) for three weeks, a 41-year-old woman presented at an emergency department. The DVT showed extensive bony destruction of large parts of the temporal bone on both sides, involving the vestibular organ, the cochlea, and the internal auditory canal. To confirm the suspicion of a systemic inflammatory process, a PE was performed from the mastoid with bioptic confirmation of an LCH. Systemic therapy was initiated. Post-therapeutic imaging showed almost complete remission with reossification of the preexisting defect zones and the internal auditory canal and labyrinth structures again showed bony margins. Clinically, there was an improvement of the vegetative symptoms with remaining bilateral sensorineural hearing loss. LCH of the temporal bone is a rare and often misdiagnosed disease due to its nonspecific clinical presentation. Awareness of temporal bone LCH and its occurrence in adults is essential for accurate and consistent diagnosis. · LCH is a rather rare disease from the hemato-oncological spectrum. · Affection of the temporal bone, especially such an extensive one (as in this case report), is rather atypical in adulthood. · Use of systemic therapy resulted in remission. · There was complete reossification of the osseous structures post-therapy. · A cochlear implant was able to be implanted to compensate for hearing loss.

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified to date. The genetic diagnostic rate varies significantly depending on the population being tested. Countries with a considerably high rate of consanguinity provide a unique resource for studying rare forms of recessive HL. In this study, we identified genetic variants associated with bilateral sensorineural HL (SNHL) using whole-exome sequencing (WES) in 11 families residing in the United Arab Emirates (UAE). Results: We established the molecular diagnosis in six probands, with six different pathogenic or likely pathogenic variants in the genes MYO15A, SLC26A4, and GJB2. One novel nonsense variant, MYO15A:p.Tyr1962Ter*, was identified in a homozygous state in one family, which has not been reported in any public database. SLC26A4 and GJB2 were found to be the most frequently associated genes in this study. In addition, six variants of uncertain significance (VUS) were detected in five probands in the genes CDH23, COL11A1, ADGRV1, NLRP3, and GDF6. In total, 12 variants were observed in eight genes. Among these variants, eight missense variants (66.7%), three nonsense variants (25.0%), and one frameshift (8.3%) were identified. The overall diagnostic rate of this study was 54.5%. Approximately 45.5% of the patients in this study came from consanguineous families. Conclusion: Understanding the genetic basis of HL provides insight for the clinical diagnosis of hearing impairment cases through the utilization of next-generation sequencing (NGS). Our findings contribute to the knowledge of the heterogeneous genetic profile of HL, especially in a population with a high rate of consanguineous marriage in the Arab population.

Salvage of the cochlear implant in cases of skin breakdown over the receiver/stimulator in children

Objective and method: Skin breakdown over receiver/stimulator (RS) after cochlear implantation poses a serious challenge. We report our experience using a one-stage reconstruction and implant salvage approach. Results: Between the years 2005 and 2017 five children, all females, with congenital- bilateral sensorineural hearing loss were identified. In all cases, a temporoparietal fascia flap (TPFF) and a large scalp flap were used to provide a two-layer coverage to the exposed RS. In the first three cases, a split-thickness skin graft was used to cover the donor site defect. In the latter two cases, a larger rotation flap was used, and a skin graft was not required. One case required revision due to the dehiscence of the wound and exposure of the RS. In another case, an accidental electrode array explantation occurred and the patient underwent a revision cochlear implantation. All patients had achieved complete healing and no change in hearing thresholds with the implants. Conclusions: We demonstrate our one-stage salvage technique with TPFF that saves the implant and prevents a two-stage procedure. The success rate can be improved with special care at reconstruction and with better protection of the implant during the procedure.