Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome.

To our knowledge, this is the first report of a patient with both genetically confirmed Kabuki and Marfan syndrome demonstrating a perifoveal macular degeneration in one eye. Progressive loss of the outer retinal layers was captured and demonstrated with spectral-domain optical coherence tomography imaging. Fundus autofluorescence imaging revealed perifoveal hypoautofluorescence. The patient had initially presented with a spontaneously resolved serous-exudative retinal detachment associated with tortuous retinal vasculature and preretinal proliferative vitreoretinopathy in the other eye. Prior to presentation, the patient had an ocular history of bilateral ectopia lentis treated with crystalline lens removal and placement of iris-claw intraocular lenses. [Ophthalmic Surg Lasers Imaging Retina 2024;55:541-544.].

Audiovestibular Involvement in Patients With Systemic Sclerosis.

INTRODUCTION: Audiovestibular dysfunction has been reported in many autoimmune connective tissue diseases, including systemic sclerosis (SSc). OBJECTIVE: To assess the prevalence and features of audiological and vestibular disturbances in SSc patients and evaluate their relationship with disease duration, clinical features, nailfold videocapillaroscopy pattern, and immunologic profiles. METHOD: A matched case-control study was conducted in a rheumatology clinic of a second-level hospital over 24 months. All patients underwent a detailed ear, nose, and throat examination, as well as audiometric and vestibular assessments, including pure tone audiometry, speech audiometry, immittance tests, and the Video Head Impulse Test. RESULTS: Thirty-five SSc patients and 24 healthy controls were included in the study. In the SSc group, subjective hearing loss was reported by 17.1% of patients, vertigo by 14.3%, tinnitus by 11.4%, and dizziness by 5.7%. Sensorineural hearing loss was identified in 42.9% of SSc patients, significantly higher than in the control group ( p = 0.013). There was no correlation between audiological manifestations and clinical symptoms, organ involvement, immunologic characteristics, and treatment. Vestibular dysfunction was detected in 60% of SSc patients, significantly higher than the control group ( p = 0.05). A significant correlation was found between abnormal Video Head Impulse Test and the presence of anti-RNA polymerase III and anti-Th/To antibodies ( p = 0.05 and p = 0.034, respectively). CONCLUSION: Our study revealed an increased prevalence of sensorineural hearing loss and vestibulopathy in SSc patients.

[Cochleovestibular manifestations in coronavirus infection]. / Kokhleovestibulyarnye proyavleniya pri koronavirusnoi infektsii.

One of the main causes of the of the inner ear pathology is a viral infection including SARS-CoV-2 virus. On the other hand the psycho-emotional state of patients also affects patients with hearing loss, tinnitus and dizziness, and an increase in depression and anxiety was revealed during the period of self-isolation. Goal of our study was to analyze cochleovestibular pathology in patients with COVID-19. The study involved 84 patients and the leading complaint was hearing loss - in 70 patients, tinnitus - in 54 patients, dizziness - in 50 patients. In addition, an increased anxiety background was found in patients, as well as signs of depression. Thus, the 2020 pandemic period was a high risk period for patients with inner ear pathology, which may be associated not only with the actual pathological effect of the virus on the auditory and vestibular system, but also with changes in the psycho-emotional status of patients.

Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.

Macrophage activation syndrome (MAS), is a severe and fatal complication of various pediatric inflammatory disorders. Kabuki syndrome (KS), mainly caused by lysine methyltransferase 2D (KMT2D; OMIM 602113) variants, is a rare congenital disorder with multi-organ deficiencies. To date, there have been no reported cases of MAS in patients with KS. This report describes a case of a 22-year-old male with Kabuki syndrome (KS) who developed MAS. This unique case not only deepens the understanding of the involvement of KMT2D in immune regulation and disease, but expands the phenotype of the adult patient to better understand the natural history, disease burden, and management of patients with KS complicated with autoimmune disorders.

Clinical experiences, current approaches, opinions and awareness of healthcare professionals regarding the audio-vestibular consequences of individuals with traumatic brain injury: a cross-sectional online survey study.

OBJECTIVE: To explore the experiences, current approaches, opinions and awareness of healthcare professionals (HCPs) caring for adults with traumatic brain injury (TBI) regarding the audio-vestibular consequences. DESIGN/SETTING: Cross-sectional online survey study. PARTICIPANTS: HCPs with experience of caring for adults with TBI, who were not ENT (ear nose throat) specialists or audiologists. METHODS: The study was conducted from May 2022 to December 2022. The online survey consisted of 16 closed and open-text questions in English and Turkish about clinical experience, current approaches and awareness of audio-vestibular consequences following TBI. Frequencies of responses to closed questions and associations between variables were analysed using SPSS V.28. Open-text responses were summarised in Microsoft Excel. RESULTS: Seventy HCPs participated from 17 professions and 14 countries, with the majority from the UK (42.9%). HCPs stated that 'some' to 'all' of their patients had auditory problems such as 'inability to understand speech-in-noise' (66%), 'tinnitus' (64%), 'hyperacusis' (57%) and balance problems such as 'dizziness' (79%) and 'vertigo' (67%). Usually, HCPs asked about the balance status of patients at appointments and when they observed dizziness and/or balance disorder they used screening tests, most commonly finger-to-nose (53%). For auditory impairments, HCPs preferred referring patients with TBI to audiology/ENT services. However, 6% of HCPs felt that audio-vestibular conditions could be ignored on referral because patients with TBI struggled with many impairments. Additionally, 44% would suggest hearing aids to patients with TBI with hearing loss 'if they would like to use' rather than 'definitely'. CONCLUSIONS: Many audio-vestibular impairments are observed by HCPs caring for patients with TBI. The assessment and intervention opinions and awareness of HCPs for these impairments vary. However, non-expert HCPs may not be aware of negative consequences of untreated audio-vestibular impairments following TBI. Therefore, developing a simple framework for screening and indications of audio-vestibular impairments for referral may be helpful for non-audiological specialists regularly seeing these patients.

Trauma-Induced Vestibular Dysfunction: Improved Repair Under Local Treatment With α1-Antitrypsin.

AIM: To characterize vestibular recovery in a mouse model of unilateral labyrinthotomy under local AAT and dexamethasone treatment. BACKGROUND: Alpha1-antitrypsin (AAT) is a circulating tissue-protective molecule that rises during inflammatory conditions and promotes inflammatory resolution. Its local concentration in human perilymph inversely correlates with the severity of inner ear dysfunction; concomitantly, mice that overexpress AAT and undergo inner ear trauma rapidly restore vestibular function. Locally applied AAT has yet to be examined in this context, nor has it been directly compared with anti-inflammatory corticosteroid treatment. METHODS: Wild-type mice C57BL/6 underwent a unilateral inner ear injury. Nine microliters of saline, clinical-grade AAT (180 µg/site), dexamethasone (4 mg/site), or both were applied locally on Days 0, 1, and 2 (n = 5/group). Vestibular function was assessed for 7 days. An in vitro human epithelial gap closure assay was performed using A549 cells in the presence of AAT and/or dexamethasone. RESULTS: Upon labyrinthotomy, all groups displayed severe vestibular dysfunction. Saline-treated mice showed the longest impairment. That group and the dexamethasone group displayed partial to no recovery, while AAT-treated mice exhibited complete recovery within 7 days; at this time point, dexamethasone-treated mice exhibited 50% recovery. Objective vestibular testing showed similar outcomes. In vitro, cotreatment with AAT and dexamethasone resulted in a gap closure dynamic that was superior to AAT alone at 6 h and superior to DEX alone at 48 h. CONCLUSION: Locally applied AAT treatment is superior to locally applied dexamethasone in promoting vestibular recovery in vivo. Ongoing studies are exploring the potential advantages of AAT combined with early low-dose dexamethasone therapy.

Central Vestibular Dysfunction in Head Injury.

OBJECTIVES: This study aims to provide an overview of dizziness post head injury in those with prominent features for central vestibular dysfunction (CVD) in comparison to those with a post-traumatic peripheral vestibular etiology. STUDY DESIGN: Retrospective. SETTING: University Health Network (UHN) Workplace Safety and Insurance Board (WSIB) database from 1988 to 2018 were evaluated for post-traumatic dizziness. METHODS: The UHN WSIB neurotology database (n = 4291) between 1998 and 2018 was retrospectively studied for head-injured workers presenting with features for CVD associated with trauma. All patients had a detailed neurotological history and examination, audiovestibular testing that included video nystagmography (VNG) and cervical vestibular-evoked myogenic potentials (cVEMPs). Imaging studies including routine brain and high-resolution temporal bone computed tomography (CT) scans and/or intracranial magnetic resonance imaging (MRI) were available for the majority of injured workers. RESULTS: Among 4291 head-injured workers with dizziness, 23 were diagnosed with features/findings denoting CVD. Complaints of imbalance were significantly more common in those with CVD compared to vertigo and headache in those with peripheral vestibular dysfunction. Atypical positional nystagmus, oculomotor abnormalities and facial paralysis were more common in those with CVD. CONCLUSION: Symptomatic post-traumatic central vestibular injury is uncommon. It occurred primarily following high-impact trauma and was reflective for a more severe head injury where shearing effects on the brain often resulted in diffuse axonal injury. Complaints of persistent imbalance and ataxia were more common than complaints of vertigo. Eye movement abnormalities were highly indicative for central nervous system injury even in those with minimal change on CT/MRI.

Vestibular-evoked myogenic potential abnormalities in Parkinson's disease with freezing of gait.

BACKGROUND: Vestibular dysfunction is closely associated with the pathophysiology of Parkinson's disease (PD) accompanied by freezing of gait (FOG); however, evidence supporting this clinical association is lacking. Vestibular-evoked myogenic potentials (VEMPs) have been widely acknowledged as a crucial electrophysiological parameter in the clinical evaluation of vestibular function. OBJECTIVE: The present study investigated the possible correlation of FOG occurrence with VEMP observations in patients diagnosed with PD. METHODS: Altogether, 95 idiopathic PD patients were recruited into the present cross-sectional study. All patients underwent motor and non-motor assessments using serial scales. In addition, the electrophysiological vestibular evaluation was conducted, which included cervical (cVEMP) and ocular VEMP (oVEMP) assessments. Furthermore, the correlations of bilateral c/oVEMP absence with clinical phenotypes, especially FOG, among the PD patients were analyzed. RESULTS: Among the 95 patients with PD, 44 (46.3%) had bilateral oVEMP absence and 23 (24.2%) had bilateral cVEMP absence, respectively. The proportions of patients with bilateral oVEMP absence (77.8% vs 30.9%, p = 0.004) and bilateral cVEMP absence (44.4% vs 19.5%, p = 0.035) were higher in the patient group exhibiting FOG than in the group without FOG. Following the adjustment of confounding variables, bilateral oVEMP absence (OR = 8.544, p = 0.007), rather than bilateral cVEMP absence, was shown to independently predict FOG occurrence in patients with PD. CONCLUSION: The close correlation between bilateral oVEMP absence and FOG in PD patients sheds new light on the possible role of central vestibular/upper brainstem dysfunction in FOG development in patients with PD.

Audiological and Vestibular Measurements in Chronic Renal Failure Patients Receiving Hemodialysis Treatment.

BACKGROUND: The aim was to evaluate the changes in the audiovestibular system in adult patients with the diagnosis of chronic renal failure who were treated with hemodialysis. METHODS: Thirty-five patients diagnosed with chronic renal failure and receiving hemodialysis treatment 3 days a week and 35 healthy individuals were tested with pure tone audiometry, video head impulse test, and post-head shake nystagmus test. Dizziness Handicap Inventory was applied to all participants. RESULTS: The Dizziness Handicap Inventory scores of the patient groups are higher than the control groups (P=.001). In the video head impulse test, there is no statistically significant difference between the patient and control groups in terms of gain asymmetry. 17.1% of the patients had both left and right lateral saccades (P=.03). A statistically significant difference was also found after the post-head shake test (P=.025). In the patient group, an inverse relationship between the presence of left anterior right posterior saccades and blood urea nitrogen-creatinine ratio and a direct relationship between the presence of right anterior left posterior saccades and creatinine elevation were determined. The presence of saccades in the video head impulse test increased significantly as the disease duration of hemodialysis patients increased. CONCLUSION: It was determined that the overt and covert saccades in the video head impulse test increased significantly as the creatinine increased and the duration of the disease increased in the patients with chronic renal failure. The common clinical usage of video head impulse test in monitoring the vestibular side effects of creatinine elevation and disease duration in chronic renal failure patients may be possible with future studies.

Etiologic distribution of dizziness/vertigo in a neurological outpatient clinic according to the criteria of the international classification of vestibular disorders: a single-center study.

OBJECTIVE: The study aimed to determine the etiological characteristics of patients with dizziness/vertigo attending a neurological clinic according to the criteria of the International Classification of Vestibular Disorders (ICVD), hoping to provide a valuable reference for clinicians to diagnose and treat dizziness/vertigo. METHOD: A total of 638 consecutive patients with a chief complaint of dizziness/vertigo who attended the vertigo clinic of our neurology department from January 2019 to January 2020 were included. Clinical data of patients, including baseline data, medical history, neurological, neuro-otological, and auxiliary examination results were collected. The etiologic distribution of dizziness/vertigo was determined by analyzing the diagnoses of patients. RESULTS: Of the 638 patients with dizziness/vertigo, 38.8% were males, 61.2% were females, with a male: female ratio of 1:1.58 and a mean age of 52.9 ± 16.9 years. Benign paroxysmal positional vertigo (BPPV) was the most common cause of dizziness/vertigo in both female (38.9%) and male patients (25.5%). Subgroup analysis based on sex showed that vestibular migraine (VM) and probable autoimmune inner ear disease (p-AIED) were more prevalent in female patients (10.7% and 3.8%, respectively), while vascular vertigo/dizziness was more common in male patients (10.1%). Subgroup analysis based on age showed that the most common diseases were VM in patients aged 0-30 years (27.4%), BPPV in patients aged 31-60 years (27.1%) and 61-100 years (46.0%). Episodic vestibular syndrome (EVS) was the most commonly observed, accounting for up to 60.6% (389/638) of all patients, and the most common diagnoses were BPPV (55.3%, 215/389), VM (15.2%, 59/389), primary unilateral peripheral vestibular dysfunction (p-UPVD) of unknown etiology (11.8%, 46/389), p-AIED (4.4%, 17/389), and vascular vertigo/dizziness (2.8%, 11/389) in these patients. Chronic vestibular syndrome (CVS) was found in 14.0% (90/638) of the patients, and the most common diagnoses were persistent postural-perceptual dizziness (PPPD, 35.6%, 32/90), psychogenic dizziness (18.9%, 17/90), p-UPVD of unknown etiology (15.6%, 14/90), vascular vertigo/dizziness (15.6%, 14/90), and bilateral vestibulopathy (7.8%, 7/90). Acute vestibular syndrome (AVS) was observed in 8.4% (54/638) of the patients, and the most common diagnoses were p-UPVD of unknown etiology (31.5%, 17/54), vestibular neuritis (24.1%, 13/54), probable labyrinthine apoplexy (16.7%, 9/54), stroke (13.0%, 7/54), and psychogenic dizziness (11.1%, 6/54). 16.4% (105/638) of the patients were found to have other disorders, including 15.2% (16/105) of patients with internal diseases, and 84.8% (89/105) of patients with unknown causes. In terms of localization diagnosis, 56.1%, 17.0%, 10.0%, and 16.4% of the patients were diagnosed with peripheral vestibular disorder, central vestibular disorder, psychiatric and functional vestibular disorders, and other disorders, respectively. CONCLUSION: (1) Dizziness/vertigo was more common in females, which was frequently caused by damage to the vestibular system. Non-vestibular or unknown etiologies were also seen in some patients; (2) VM was more prevalent in women than in men, vascular vertigo/dizziness was more commonly observed in men; (3) EVS was more common in patients with dizziness/vertigo. The most common causes of dizziness/vertigo were peripheral vestibular disorders in patients with AVS and EVS, PPPD and psychogenic dizziness in patients with CVS. The most common causes were BPPV and p-UPVD of unknown etiology in patients with a peripheral vestibular disorder, VM and vascular vertigo/dizziness in patients with central vestibular disorder, PPPD and psychogenic dizziness in patients with psychiatric and functional vestibular disorders.

Vestibular disorders following BNT162b2 mRNA COVID-19 vaccination: A retrospective case series.

BACKGROUND: There are few publications regarding manifestations of vestibular disorders (VDs) following BNT162b2 mRNA COVID-19 vaccination. PURPOSE: We describe cases of VD potentially related to BNT162b2 vaccination and calculate its reporting rate, in order to enlarge knowledge about this adverse effect. METHODS: A retrospective analysis of cases of VD following BNT162b2 vaccination reported to the pharmacovigilance centre of Georges-Pompidou European Hospital (France), in 2021 was performed. In order to identify these cases from the pharmacovigilance database containing all our registered cases, we used the Standardised MedDRA Query (SMQ) 'vestibular disorders'. Then we analysed cases with vestibular symptoms, based on the association of typical manifestations. The reporting rate was calculated based on the number of VD cases and the number of vaccinated patients. RESULTS: Among 6608 cases reported to our centre related to COVID-19 vaccines during 2021, 34 VDs associated with BNT162b2 administration were included. They were mainly reported in females (79%), 62% occurred after the first dose and 32% were serious. Symptoms had completely resolved in 13 cases (38%). Vertigo was the most common symptom followed by balance disorders. Three patients received second dose without reappearance of VD. The final diagnosis was reported in 10 patients (six cases of vestibular neuritis, two cases of central VD, two cases of benign paroxysmal positional vertigo). The regional reporting rate was 26 [95% CI: 17-34] cases of VD per 1 million persons vaccinated. CONCLUSION: Although the relationship between vaccination and VD cannot be established, clinicians should be aware of this rare adverse effect.

Comparing the recurrence of audio-vestibular disorders following breakthrough infection of COVID-19 vs. those following vaccine administration.

PURPOSE: The term "breakthrough infection" of COVID-19 indicates that subjects who previously received COVID-19 vaccination became infected with COVID-19. This study compared the recurrence of audio-vestibular disorders following breakthrough infection of COVID-19 vs. those following vaccine administration. PATIENTS AND METHODS: Fifty patients with previous known audio-vestibular disorders visited our clinic due to recurrence of inner ear symptoms following breakthrough infection of COVID-19 and were assigned to Group A. Another 50 patients who had recurrent inner ear symptoms following COVID-19 vaccination were assigned to Group B for comparison. The post-breakthrough infection interval is defined from date of breakthrough infection to the onset of inner ear symptoms, while the post-vaccination interval means the time from date of vaccination to the onset of inner ear symptoms. These two intervals were calculated and then compared. RESULTS: The time from latest vaccination to the breakthrough infection of COVID-19 was 4 m (median), likely due to waning of IgG response. To the onset of inner ear symptoms, the post-breakthrough infection interval was 40d (median) for Group A, which was significantly longer than 10d (median) of the post-vaccination interval for Group B. CONCLUSION: The post-breakthrough infection interval (median, 40d) is significantly longer than the post-vaccination interval (median, 10d) to exacerbate pre-existing audio-vestibular disorders. The reason is probably because an interval of 40d is related to IgG peak response following COVID-19 breakthrough infection, while that of 10d is responsible for IgG production after COVID-19 vaccination.

Vestibular dysfunction amongst adolescents: what do we know? A review.

BACKGROUND: Vestibular dysfunction in children is a debilitating condition that results in countless pernicious effects, such as motor development delay, poor academic performance and psychosocial impairment. Yet, research pertaining to vestibular and balance disorders amongst adolescents is still lacking and remains an enigma. METHODS: This paper outlines novel emerging aetiological factors contributing to vestibular dysfunction amongst adolescents by appraising published articles through a narrative review. RESULTS: Underlying aetiological factors of vestibular dysfunction can be identified among adolescents with thorough evaluation. Proper diagnostic evaluation of vestibular dysfunction is imperative in providing optimal care and guiding appropriate treatment strategies. The available literature demonstrated multifactorial aetiological factors that contribute to vestibular dysfunction in adolescents. CONCLUSION: Outlining the underlying aetiological factors of vestibular dysfunction is vital to ensure that patients receive appropriate care and treatment.

Four cases of audio-vestibular disorders related to immunisation with SARS-CoV-2 mRNA vaccines.

OBJECTIVE: To gain medical insight into the clinical course and safety of otolaryngologic disorders following immunisation with severe acute respiratory coronavirus (SARS-CoV-2) mRNA-based vaccines. DESIGN: Case description. STUDY SAMPLE: We report four cases of transient audio-vestibular symptoms, which occurred shortly after inoculation of two BNT162b2 (Pfizer-BioNTech®) and mRNA-1273 (Moderna®) vaccines. RESULTS: Hearing loss was unilateral in all cases and recovered at least partially: it was associated with persistent gait instability in two cases, after 1 and 7 months. Trigger mechanisms underpinning audio-vestibular impairment remain uncertain. Immune tolerance mechanisms with off-target innate activation of T-lymphocytes may be involved in vestibulocochlear nerve disorders, as for other cranial nerves involvement. CONCLUSIONS: The occurrence of audio-vestibular manifestations following mRNA-based vaccines needs ENT monitoring to support their causality in such rare vaccine-related adverse events. Audio-vestibular disorders appeared of transitory nature, including hearing loss, and should not deter further efforts in large-scale vaccination campaigns against SARS-CoV-2.