Genetic diagnosis of childhood sensorineural hearing loss.

INTRODUCTION: Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL. MATERIALS AND METHODS: We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes). RESULTS: 48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were GJB2, USH2A and STRC. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss. CONCLUSIONS: Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.

Sudden bilateral deafness in a patient with vertebrobasilar artery occlusion: A case report.

RATIONALE: Sudden bilateral deafness is often associated with serious systematic conditions such as neoplasms, vascular events, autoimmune diseases, infections, and iatrogenic injury, but very rarely to cerebrovascular disease. This is a rare case of sudden bilateral deafness in a patient with the vertebrobasilar artery occlusion. PATIENT CONCERNS: A 46-year-old man was admitted to a local hospital for sudden bilateral deafness, the patient suffered inarticulate speech and walking unsteadily 6 days later. DIAGNOSES: Difusion-weighted magnetic resonance imagin demonstrated acute cerebral infarction in the pons and bilateral cerebellum; Magnetic resonance angiography showed vertebrobasilar artery occlusion. INTERVENTIONS: Aspirin and clopidogrel were given for antiplatelet therapy, revascularization was obtained by endovascular treatment. OUTCOMES: The symptoms of dysarthria, ataxia and weakness gradually improved and were discharged 14 days after admission revascularization. After 3 months telephone followed-up the patient was self-cared. LESSONS: Deafness sometimes can be an early warning sign of impending vertebrobasilar ischemic stroke. Early recognition of deafness with acute ischemic stroke should allow special management, and misdiagnosis may result in significant morbidity, or even mortality.

Case Report: Leptospirosis Complicated by Persistent, Bilateral Sensorineural Hearing Loss.

The clinical manifestations of leptospirosis range from mild to life-threatening and can impact on multiple organ systems. A wide array of neurological manifestations of leptospirosis have been reported, although the pathophysiology of neuroleptospirosis remains incompletely understood. We present a case of leptospirosis complicated by bilateral sensorineural deafness, with nodular meningitis demonstrated in the internal auditory meatus on magnetic resonance imaging. The patient was treated with doxycycline, ceftriaxone, systemic and topical steroids, and hyperbaric oxygen therapy, with modest, but incomplete, improvement.

Effective cochlear implantation for idiopathic hypertrophic pachymeningitis with bilateral profound hearing loss: A case report.

RATIONALE: Hypertrophic pachymeningitis (HP) is a local or diffuse fibrous thickness of the dura mater of the brain or spinal cord, caused by infection or connective tissue disease. Headache is the most common clinical symptom, followed by various cranial nerve disorders such as visual impairment, diplopia, and hearing loss. HP can be classified into secondary and idiopathic. Here, we report a case of bilateral progressive profound sensorineural hearing loss diagnosed in a patient with idiopathic HP, where a cochlear implant was effectively used. PATIENT CONCERNS: The patient was a 77-year-old woman. Hearing loss gradually progressed bilaterally, and magnetic resonance imaging showed a space-occupying lesion with a continuous contrast enhancement in the bilateral internal auditory canals, and diffused dural thickening from the middle to the posterior cranial fossa. DIAGNOSES: A trans-labyrinthine biopsy was conducted, and a definite diagnosis of idiopathic HP was made. Thickening of the dura mater in the bilateral internal auditory canals was thought to cause profound hearing loss. INTERVENTIONS AND OUTCOMES: A cochlear implant was implemented 4 months after biopsy, and a favorable hearing response was obtained postoperatively. LESSONS: This is the first report of a cochlear implant in a patient with idiopathic HP. Cochlear implantation was considered a good treatment for profound hearing loss due to idiopathic HP, which provides a reference for patients to receive timely and correct treatment.

Cogan Syndrome: A Case Study and Review of the Literature.

Cogan syndrome is an autoimmune disease characterized by vestibular symptoms, bilateral sensorineural hearing loss, and inflammatory ocular manifestations, which may be accompanied by systemic vasculitis. We herein present the case of a patient with bilateral sensorineural hearing loss who presented with pain over her cochlear implantation incision site. She was later found to have evidence of ocular disease and underlying vasculitis leading to a diagnosis of Cogan syndrome.

Universal neonatal hearing screening and delayed hearing loss or late-developmental hearing loss.

OBJECTIVE: To determine the percentage of children with permanent bilateral postnatal hearing loss in order to study its incidence, related risk factors, diagnosis and treatment. METHODS: Retrospective study to collect data on children diagnosed with hearing loss outside the neonatal period in the Hearing Loss Unit of the Hospital Universitario Central de Asturias, from April 2014 to April 2021. RESULTS: 52 cases met the inclusion criteria. The detection rate of congenital hearing loss in the neonatal screening programme in the same study period was 1.5 children per thousand newborns per year, adding postnatal hearing loss results in a rate of infant bilateral hearing loss of 2.7 children per thousand (55.5% and 44.4% respectively). Thirty-five children presented risk factors for hearing loss, of which 23 were at retrocochlear risk. The mean age at referral was 91.9 (18-185) months. Hearing aid fitting was indicated in 44 cases (84.6%). Cochlear implantation was indicated in eight cases (15.4%). DISCUSSION: Although congenital hearing loss accounts for the majority of childhood deafness, postnatal hearing loss has a significant incidence. This may be mainly due to: (1) that hearing impairment may arise in the first years of life, (2) that mild hearing loss as well as hearing loss in severe frequencies are undetectable by neonatal screening in some cases, (3) that some children may have false negative results. CONCLUSION: postnatal hearing loss requires identification of risk factors and long-term follow-up of children with hearing loss, as it needs to be detected and treated early.

Acute bilateral hearing loss as a rare presentation of acute stroke.

Acute bilateral hearing loss is an uncommon presentation in the Emergency Department (ED), with a variety of potential causes. It is important to consider neurologic vascular etiologies as a cause for acute sensorineural hearing loss. We report a case of acute hemorrhagic stroke presenting as acute bilateral hearing loss. A 60-year-old male with a history of atrial fibrillation presented to the ED with the acute onset of bilateral hearing loss with otherwise intact neurologic testing. He was found to have an acute left temporal hemorrhagic stroke, and magnetic resonance imaging demonstrated multifocal ischemia including an acute right temporal ischemic stroke. In the ED setting, cerebrovascular pathology is an important consideration in the patient presenting with acute hearing loss in the absence of an alternative diagnosis. Missing such a diagnosis can lead to significant morbidity and mortality.

Primary presentation of sarcoidosis with profound bilateral sensorineural hearing loss.

We present a case of a 7-year-old Afro-Caribbean girl presenting with rapidly progressive bilateral sensorineural hearing loss. She was found to have an elevated Angiotensin converting enzyme (ACE) and mediastinal lymphadenopathy containing non-caseating granulomas with multinucleate giant cells, in keeping with sarcoidosis. Cranial imaging demonstrated labyrinthitis. She underwent urgent bilateral cochlear implantation with rehabilitation of hearing sufficient to restart education within 1 month.

Catastrophic bilateral sudden sensorineural hearing loss following COVID-19.

Since December 2019, when it was first detected in Wuhan, the SARS-CoV-2 (COVID-19) has spread across the globe. The pandemic has had an unprecedented impact on the global population with >110 million confirmed cases and 2.5 million deaths. The most common initial symptoms of COVID-19 infection are cough, dyspnoea, fever, malaise and anosmia. Severe clinical manifestations include respiratory compromise, pneumonia, organ failure and death. There have been many other less common symptoms as a result of COVID-19 described in the literature, including significant rates of olfactory dysfunction. However, we believe there has been only one other previously documented cases of bilateral hearing loss.Sudden sensorineural hearing loss is a relatively common presentation seen by otolaryngologists. It is defined as rapid hearing loss, ≥30 dB occurring over 3 consecutive days in three contiguous sound frequencies. The exact pathological process is yet to be fully characterised, though it is most commonly unilateral and commonly develops shortly following viral infection. Treatment typically consists of glucocorticoid steroids administered orally, via intratympanic injection or a combination of both routes though there are currently no standardised management of these patients.Bilateral sudden sensorineural hearing loss (SSNHL) is rare, accounting for <2% of all cases. We describe a case of bilateral SSNHL in a 68-year-old patient who presented with profound hearing loss shortly after symptomatic infection with COVID-19, which at the time of publication is the first such case reported in the literature.

Cryptococcal meningitis presenting with acute hearing loss.

Reversible sensorineural hearing loss is a recognised complication of cryptococcal meningitis. Cryptococcal meningitis typically presents with usual symptoms of fever, headache and neck stiffness. This case highlights acute, profound, bilateral hearing loss as the initial symptom and presentation of cryptococcal meningitis in a young woman, who was later diagnosed with AIDS.

Aetiologies of profound bilateral sensorineural hearing loss among children in Ekiti State, South Western Nigeria.

INTRODUCTION: a strong need exists for the knowledge of aetiologies of diseases as this will guide the clinicians on the strategies for their treatment and prevention. In this study, we determined the aetiologies of profound bilateral sensorineural hearing loss (pbSNHL) with a view to provide the relevant data needed for preventive and therapeutic intervention among children in Ekiti State, South Western Nigeria. METHODS: medical records of children with pbSNHL seen over a ten-year period were analysed. RESULTS: in all, records of 142 children with pbSNHL were analysed. The results showed spectrum of aetiologies that were similar to those reported decades ago with the 'unknown' assuming a recurring decimal. Of the known (acquired) cases, measles takes up the largest 'chunk' with a prevalence of 45.8%. Twenty-eight (32.2%) of those with febrile illnesses had treated their fever with ototoxic antibiotics. Late diagnosis was characteristic of the pbSNHL. CONCLUSION: this study shows that there hasn't been any significant shift in the common causes of pbSNHL. Of great concern is the persistence of the 'unknown' causes which assumes a recurring decimal in this and previous studies. Also worrisome is the high prevalence of measles-induced pbSNHL despite the availability of anti-measles vaccine. We therefore suggest effective immunization against measles and other vaccine-preventable causes of pbSNHL. The need for intensive research on the unknown causes of pbSNHL is hereby stressed. Also recommended is routine hearing assessment for survivors of febrile conditions so as to detect, if any, hearing loss promptly.

Obstructive ureteric calculus with superimposed infections causing reversible posterior leukoencephalopathy syndrome: A case report.

RATIONALE: Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinicoradiological phenomenon first observed 2 decades ago. Reversibility is the hallmark of this rare clinical phenomenon once the triggering pathology is aptly and adequately treated. Tinnitus preceding bilateral hearing loss as a symptomatology of RPLS has not been reported in the literature. Furthermore, chronic obstructive ureteric calculus with superimposed infections as a cause of RPLS has not been reported in the literature. PATIENT CONCERNS: A 57-year-old female was admitted at our facility because of 2 days history of hearing loss in both ears. She experienced tinnitus in both ears 2 weeks prior to the hearing loss. She is a known hypertensive. She has also undergone multiple surgical treatments for urinary calculi. DIAGNOSIS: Computed tomography (CT) scan of the urinary system revealed a calculus at the right ureter. Magnetic resonance imaging (MRI) showed abnormal signals at both temporo-parieto-occipital (TPO) cortices, the subcortical area, as well as the left hippocampus which was consistent with the diagnosis of RPLS. INTERVENTIONS: While on antibiotics for treatment of infections, the patient went into hypertensive encephalopathy and pneumonia was also established necessitating intensive care. OUTCOMES: We observed a resolution of the patient's temperature and hypertension when the right ureteric stone finally descended into the bladder. Also, we observed disappearance of the abnormal signals at both TPO cortices, the subcortical area, as well as the left hippocampus. Two years follow-up revealed no recurrence of her symptomatology. LESIONS: Patients who present with hypertensive encephalopathy maybe more prone to developing RPLS. Renal insufficiency alone or hypertension alone may not be single predisposing entities to RPLS but rather multiple predisposing factors.

A new phenomenon of cochlear otosclerosis: an acquired or congenital disease? - A clinical report of cochlear otosclerosis.

BACKGROUND: No cochlear otosclerosis in infants with congenital bilateral SNHL has been reported. AIMS/OBJECTIVES: We report an infant male with bilateral cochlear otosclerosis, suggesting that cochlear otosclerosis may be a congenital disease and to further analyze the etiology of and genetic expression in congenital bilateral cochlear otosclerosis. We also describe the clinical characteristics and experience of patients with bilateral cochlear otosclerosis treated with cochlear implants (CIs). MATERIALS AND METHODS: Seven patients, including an infant, who were diagnosed with cochlear otosclerosis underwent CI surgery. Their medical records, audiological and radiological results, surgical procedures, and CI outcomes were collected and reviewed. RESULTS: The median age at hearing loss was 38 years, ranging from 0 to 47 years. The child had bilateral hearing loss at birth and received a CI at 1 year of age. He also had growth retardation and was diagnosed with 3q+/3p- syndrome. All patients (8 ears) had better postoperative auditory performance than that preoperatively. CONCLUSIONS AND SIGNIFICANCE: Although cochlear otosclerosis often starts at middle age and progresses slowly, it may be a congenital disease that is related to chromosome abnormality. This disease presents with SNHL or MHL, and treatment with a CI is beneficial.

Basilar artery occlusion presenting as sudden bilateral deafness: a case report.

BACKGROUND: Most sudden-onset hearing loss is due to otolaryngologic- and very rarely to cerebrovascular disease. We report a woman with sudden bilateral sensorineural hearing loss. This case suggests that even in the absence of brainstem or cerebellar signs, magnetic resonance imaging (MRI) and MR angiography (MRA) should be performed since such studies may reveal signs of life-threatening vertebrobasilar artery occlusion. CASE PRESENTATION: A 73-year-old Japanese woman with a history of hypertension, hyperlipidemia, and atrial fibrillation who suffered bilateral deafness with vertigo and vomiting was transferred from a local hospital to our department. On admission her consciousness was clear and vertigo was absent. Neurological examination revealed only bilateral sensorineural hearing loss. Head computed tomography (CT) returned no significant findings. The next morning she gradually developed severe drowsiness. Diffusion-weighted MRI demonstrated acute cerebral infarction in the brainstem and bilateral cerebellum; MRA showed basilar artery occlusion due to a cardioembolic thrombus. Revascularization was obtained by endovascular treatment. However, her condition worsened progressively during the following hours. CT revealed new brainstem lesions, massive cerebellar swelling, and obstructive hydrocephalus. She died on the second day after her admission. CONCLUSIONS: When hearing loss is due to vertebrobasilar occlusive disease, the prognosis is very poor. We suggest that vertebrobasilar stroke be suspected in patients with bilateral sensorineural hearing loss who present with risk factors for stroke such as atrial fibrillation and other neurologic signs.

Profound bilateral deafness complicating aortic arch surgery.

Hearing loss is a rare complication of cardiac surgery; bilateral profound deafness has never been reported in this setting. A 45-year-old male presented with profound bilateral sudden deafness following arch surgery and frozen elephant trunk. Patient's presentation, surgery details and aetiological mechanisms are discussed.

Bilateral Hearing Loss and Unilateral Cochlear Ossification in a Patient With Chronic Myelogenous Leukemia.

Bilateral sensorineural deafness and unilateral cochlear ossification have rarely been described in patients with chronic myeloid leukemia (CML). A 21-year-old man presented to a hospital with right-sided sudden hearing loss and tinnitus. He was diagnosed with CML. Five days later, sudden hearing loss appeared in the other ear. Abnormality of the right-sided inner ear structure was revealed by preoperative magnetic resonance imaging; honeycomb-like cochlear ossification was observed during cochlear implant surgery in the right ear. The patient's auditory performance exhibited significant improvement after bilateral cochlear implantation in our hospital. Hematological disorders must be considered in patients with sensorineural hearing loss. Cochlear implantation is feasible in patients with CML who exhibit sensorineural deafness, but cochlear ossification should be carefully evaluated by means of preoperative imaging examinations.

Ventilation tube non-function due to blockage in children: the frequency, course and effect on hearing. A prospective cohort study.

OBJECTIVE: To assess the effect on hearing of non-functioning ventilation tubes due to blockage during the first six months post-operatively, using UK national guidelines. METHOD: A prospective, observational study was conducted on 37 children who underwent bilateral ventilation tube insertion. Air and bone conduction thresholds were measured before and following surgery, and at one, three and six months post-operatively. Tube non-function was assessed by tympanometry supported by otoscopy. RESULTS: Post-operatively, an average of 21 per cent of ventilation tubes were non-functioning. Ears with non-functioning tubes had significantly (p = 0.0001) poorer mean air conduction thresholds than functioning tubes, with a magnitude of 6 dB HL. Ears with otorrhoea were most affected (15 per cent). At any one visit, the air-bone gap was closed to 10 dB or less in 76 per cent of ears. Non-functioning tubes reduced this to 56 per cent. Compared with tympanometry, otoscopy underdiagnosed tube non-function due to blockage by 22 per cent. CONCLUSION: Non-functioning of ventilation tubes occurs frequently and can be missed on otoscopy. Although it is associated with poorer air conduction thresholds, the magnitude of this difference is unlikely to warrant further intervention unless there is otorrhoea or recurrence of bilateral hearing impairment.