[Bilateral vestibulopathy and sensorineural hearing loss in necrobiotic xanthogranuloma, multiple myeloma and amiloidosis]. / Dvustoronnyaya vestibulopatiya i sensonevral'naya tugoukhost' u patsienta s nekroticheskoi ksantogranulemoi, mnozhestvennoi mielomoi i amiloidozom.

This article describes a rare case of necrotic xanthogranuloma in a 46-year-old patient who presented with the development of periorbital xanthelasms, progressive bilateral sensorineural hearing loss and bilateral vestibulopathy, followed by multiple myeloma and amyloidosis. For several years, the patient underwent standard rehabilitation for chronic sensorineural hearing loss and was fitted with a hearing aid. During hospitalisation for exacerbation of chronic bronchitis, monoclonal gammopathy was identified, and later, after careful examination and repeated biopsies, necrotic xanthogranuloma, multiple myeloma and AL-amyloidosis were confirmed. Targeted immunochemotherapy resulted in improvement of hearing and significant recovery of the vestibuloocular reflex bilaterally.

CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study describes clinical and genetic features of our patients with clinical suspicion of the syndrome. STUDY DESIGN: A retrospective descriptive study from an ataxia database comprising 500 patients. SETTING: The study was performed at the Otorhinolaryngology Department of a hospital in the north of Spain. METHODS: Specific genetic testing for CANVAS was performed in 13 patients with clinical suspicion of complete or incomplete syndrome. The clinical diagnosis was supported by quantitative vestibular hypofunction, cerebellar atrophy, and abnormal sensory nerve conduction testing. RESULTS: Nine of 13 (69%) patients met clinical diagnostic criteria for definite CANVAS disease. The first manifestation of the syndrome was lower limb dysesthesia in 8 of 13 patients and gait imbalance in 5 of 13. Eleven of 13 (85%) patients were carriers of the biallelic (AAGGG)exp in RFC1. CONCLUSION: A genetic cause of CANVAS has recently been discovered. We propose genetic screening for biallelic expansions of the AAGGG pentamer of RFC1 in all patients with clinical suspicion of CANVAS, since accurate early diagnosis could improve the quality of life of these patients.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slowly progressive disorder characterized by cerebellar ataxia, sensory neuropathy and bilateral vestibulopathy. Recently, a biallelic intronic AAGGG repeat expansion, (AAGGG)exp, in the Replication Factor C1 (RFC1) gene was identified as the cause of this disorder. In this study, we describe the phenotypic features of five patients from five different families diagnosed as CANVAS. The mean age at onset was 49.00 ± 9.05 years (between 34 and 56 years) and the most frequent presenting symptom in CANVAS was gait ataxia, followed by sensory disturbances. Persistent coughing was prominent in three patients, and it preceded the onset of ataxia and sensory symptoms in two patients. Parental consanguinity was present in three patients. Two patients showed symptoms or signs suggesting autonomic involvement. Sural nerve biopsy revealed axonal neuropathy in two patients. The mean age at onset was 49.00 ± 9.05 years (between 34 and 56 years) and the most frequent presenting symptom in CANVAS was gait ataxia, followed by sensory disturbances. Persistent coughing was prominent in three patients, and it preceded the onset of ataxia and sensory symptoms in two patients. Parental consanguinity was present in three patients. Two patients showed symptoms or signs suggesting autonomic involvement. Sural nerve biopsy revealed axonal neuropathy in two patients. Our study describes clinical findings, histopathological features and diagnostic clues of CANVAS from Turkey, a country with a high consanguineous marriage rate. Repeat expansion in the RFC1 gene should be considered in all cases with late-onset ataxia, especially when sensory disturbances, vestibular involvement and persistent coughing coexist.

Prospective cohort study on the predictors of fall risk in 119 patients with bilateral vestibulopathy.

OBJECTIVES: To identify predictive factors for falls in patients with bilateral vestibulopathy (BV). Specific variables contributing to the general work-up of a vestibular patient were compared between BV patients experiencing falls and those who did not. DESIGN: Prospective multi-centric cohort study. SETTING: Department of Otorhinolaryngology & Head and Neck Surgery at two tertiary referral centers: Antwerp University Hospital and Maastricht University Medical Center. PARTICIPANTS: In total, 119 BV patients were included. BV diagnosis was defined in accordance with the diagnostic BV criteria, established by the Bárány Society in 2017. MAIN OUTCOME MEASURES: Patients were divided into fallers and non-fallers, depending on the experience of one or more falls in the preceding 12 months. Residual vestibular function on caloric testing, rotatory chair testing, video head impulse test (vHIT) and cervical vestibular evoked myogenic potentials (cVEMP) was evaluated as a predictive factor for falls. Furthermore, hearing function (speech perception in noise (SPIN)), sound localization performance, etiology, disease duration, sport practice, scores on the Dizziness Handicap Inventory (DHI) and the Oscillopsia Severity Questionnaire (OSQ) were compared between fallers and non-fallers. RESULTS: Forty-five (39%) patients reported falls. In a sub-analysis in the patients recruited at UZA (n = 69), 20% experienced three or more falls and three patients (4%) suffered from severe fall-related injuries. The DHI score and the OSQ score were significantly higher in fallers. Residual vestibular function, SPIN, sound localization performance, etiology, disease duration, age and sport practice did not differ between fallers and non-fallers. CONCLUSIONS: Falls and (severe) fall-related injuries are frequent among BV patients. A DHI score > 47 and an OSQ score > 27.5 might be indicative for BV patients at risk for falls, with a sensitivity of 70% and specificity of 60%. Residual vestibular function captured by single vestibular tests (vHIT, calorics, rotatory chair, cVEMP) or by overall vestibular function defined as the number of impaired vestibular sensors are not suitable to distinguish fallers and non-fallers in a BV population.

Terapia vestibular en vestibulopatía bilateral por gentamicina: reporte de un caso y revisión de la literatura / Vestibular therapy in a case of gentamicin-induced vestibulopathy: case report and literature revision

La vestibulopatía bilateral es poco frecuente, se caracteriza principalmente por inestabilidad al caminar o al estar de pie, visión borrosa inducida por el movimiento u oscilopsia al caminar o al realizar movimientos rápidos de la cabeza o del cuerpo, empeoramiento de la estabilidad en la oscuridad o terrenos irregulares, reducción de los síntomas al estar en condiciones estáticas, ganancia del reflejo vestíbulo-ocular angular reducida de forma bilateral, entre otros. Existen múltiples causas. Dentro de las causas identificables, se describen principalmente medicamentos ototóxicos, meningitis y enfermedad de Ménière. Se presenta el caso de una paciente de 64 años diagnosticada con vestibulopatía bilateral posterior a tratamiento intramuscular con gentamicina por sobreinfección bacteriana cutánea de las manos. La evaluación vestibular complementada con videonistagmografía y prueba de impulso cefálico asistida por video confirman el diagnóstico y se inicia tratamiento con rehabilitación vestibular enfocada en promover la compensación central a través de estrategias de sustitución principalmente; además de habituación y adaptación vestibular, favoreciendo la estabilización de la mirada, mantención del equilibrio, control postural, marcha y reducción de los síntomas.

Bilateral vestibulopathy is infrequent, and it is characterized mostly by unstable walking or when standing, blurred vision induced by movement, or oscillopsia when walking or performing fast movements; worsening of the stability in darkness or uneven ground, but with lack of symptoms in static conditions. Other symptoms may include bilateral reduction of the oculo-vestibular reflex. Among the identifiable causes, there is the use of ototoxic medication, meningitis, Ménière's disease, although it can be idiopathic or have a neurological cause. We hereby describe the case of a 64-year-old woman, diagnosed with bilateral vestibulopathy secondary to intramuscular treatment with gentamicin due to a bacterial hand infection. Vestibular assessment was complemented with video-nystagmography and video head impulse test which confirmed the diagnosis, and therapy was started with vestibular rehabilitation focused on promoting central compensation mainly, through substitution strategies. Also, habituation exercise and vestibular adaptation strategies were used, thus promoting sight stabilization, balance maintenance, postural control, walking, and reduction of the symptoms.

Avaliação da vertical visual subjetiva em adultos jovens / Evaluation of subjective visual vertical in young adults

RESUMO Objetivo Avaliar a vertical visual subjetiva em indivíduos adultos jovens sem queixas vestibulares e/ou alterações do equilíbrio corporal. Método Estudo do tipo observacional, descritivo, analítico, de delineamento transversal, no qual foram avaliados 50 adultos jovens, com idade entre 18 e 30 anos. Foram excluídos do estudo indivíduos com alteração neurológica, alteração cognitiva evidente, deficiência física que influenciasse no equilíbrio corporal, alteração visual sem uso de lentes corretivas, uso de medicamentos com ação sobre o sistema nervoso central e/ou vestibular, relato de ingestão alcoólica 24 horas antes da avaliação e indivíduos com alterações e/ou queixas vestibulares. Os participantes foram submetidos à anamnese e à avaliação da vertical visual subjetiva, por meio do teste do balde. O teste foi realizado em três condições sensoriais diferentes: 1- Indivíduo sentado, com os dois pés sobre superfície estável (piso de paviflex); 2- Indivíduo sentado, com os pés em cima de uma espuma; 3- Indivíduo em pé sobre uma espuma. Resultados A vertical visual subjetiva não apresentou diferença significativa (p= 0,93) entre as condições sensoriais estudadas. Conclusão Em adultos jovens hígidos, o sistema proprioceptivo não influenciou significativamente a avaliação da vertical visual subjetiva, realizada por meio do teste do balde.

ABSTRACT Objective To evaluate subjective visual vertical in young adults without vestibular complaints and/or body balance problems. Methods This was a descriptive cross-sectional, observational and analytical study that assessed 50 young adults aged 18 to 30 years. Adult were excluded from the study if they had neurological and cognitive disorders, physical disability that affected their balance, visual impairment with no use of corrective lenses, use of drugs with effects on the central nervous system and/or the vestibular system and self-report of alcoholic use 24 hours before the assessment, and adults with vestibular problems and/or complaints The participants answered questions in a medical history interview and underwent subjective visual vertical assessment with the bucket method. The test was performed under three different sensory conditions: 1 - Subjects sitting with both feet on a stable surface (Paviflex® flooring); 2- Subjects sitting with their feet on top of foam; 3- Subjects on top of foam. Results The subjective visual vertical did not show a significant difference (p = 0.93) among the study sensory conditions. Conclusion The proprioceptive system did not significantly influence the measurement of the subjective visual vertical in young healthy adults.

Amiodarone-associated bilateral vestibulopathy.

BACKGROUND: Bilateral vestibulopathy (BVP) is a debilitating disorder characterized by the hypofunction of both vestibular end organs or nerves. The most frequent identifiable causes of BVP are ototoxic drug effects, infectious and autoimmune disorders. The majority of cases, however, remain idiopathic. METHODS: Medical records of patients diagnosed with idiopathic BVP were examined in five dizziness clinics. RESULTS: We identified 126 patients with "idiopathic" BVP. Out of these, 15 patients had a history of Amiodarone treatment before the diagnosis of BVP, resulting in a 12% prevalence. CONCLUSION: The present report supports the hypothesis that Amiodarone can cause BVP. Vestibular examination in patients taking Amiodarone and suffering from balance-related symptoms are recommended, to recognize this adverse effect as early as possible and allow for an informed judgement on a potential dose reduction or withdrawal for recovery of the vestibular function.

Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.

This paper describes the diagnostic criteria for bilateral vestibulopathy (BVP) by the Classification Committee of the Bárány Society. The diagnosis of BVP is based on the patient history, bedside examination and laboratory evaluation. Bilateral vestibulopathy is a chronic vestibular syndrome which is characterized by unsteadiness when walking or standing, which worsen in darkness and/or on uneven ground, or during head motion. Additionally, patients may describe head or body movement-induced blurred vision or oscillopsia. There are typically no symptoms while sitting or lying down under static conditions.The diagnosis of BVP requires bilaterally significantly impaired or absent function of the vestibulo-ocular reflex (VOR). This can be diagnosed for the high frequency range of the angular VOR by the head impulse test (HIT), the video-HIT (vHIT) and the scleral coil technique and for the low frequency range by caloric testing. The moderate range can be examined by the sinusoidal or step profile rotational chair test.For the diagnosis of BVP, the horizontal angular VOR gain on both sides should be <0.6 (angular velocity 150-300°/s) and/or the sum of the maximal peak velocities of the slow phase caloric-induced nystagmus for stimulation with warm and cold water on each side <6°/s and/or the horizontal angular VOR gain <0.1 upon sinusoidal stimulation on a rotatory chair (0.1 Hz, Vmax = 50°/sec) and/or a phase lead >68 degrees (time constant of <5 seconds). For the diagnosis of probable BVP the above mentioned symptoms and a bilaterally pathological bedside HIT are required.Complementary tests that may be used but are currently not included in the definition are: a) dynamic visual acuity (a decrease of ≥0.2 logMAR is considered pathological); b) Romberg (indicating a sensory deficit of the vestibular or somatosensory system and therefore not specific); and c) abnormal cervical and ocular vestibular-evoked myogenic potentials for otolith function.At present the scientific basis for further subdivisions into subtypes of BVP is not sufficient to put forward reliable or clinically meaningful definitions. Depending on the affected anatomical structure and frequency range, different subtypes may be better identified in the future: impaired canal function in the low- or high-frequency VOR range only and/or impaired otolith function only; the latter is evidently very rare.Bilateral vestibulopathy is a clinical syndrome and, if known, the etiology (e.g., due to ototoxicity, bilateral Menière's disease, bilateral vestibular schwannoma) should be added to the diagnosis. Synonyms include bilateral vestibular failure, deficiency, areflexia, hypofunction and loss.

Impacto del implante coclear en la función vestibular periférica / Impact of cochlear implantation in peripheral vestibular function / Impacto do implante coclear na função vestibular periferica

Introducción: el implante coclear (IC) se ha convertido en el tratamiento más efectivo para la hipoacusia neurosensorial severa-profunda. En los últimos años se han ampliado sus indicaciones, especialmente los casos bilaterales. Es por ello que en la comunidad otológica surge el interrogante de cómo puede afectar a la función vestibular la inserción de un array de electrodos intracocleares. Material y método: Estudio descriptivo, de tipo longitudinal, entre diciembre de 2013 y julio de 2016. Se realizó una revisión de 92 historias clínicas de pacientes que se sometieron a implante coclear en el mismo centro por el mismo equipo y cumplían criterios de inclusión. Resultados: De los 92 pacientes evaluados en el preoperatorio se observaron: Normofunción vestibular bilateral: 56 pacientes (60,8%), Hipofunción vestibular bilateral: 13 pacientes (14,1%), Hipofunción vestibular unilateral: 21 pacientes (22,8%). De los 46 oídos evaluados pre y post IC, un 14,8% (7 pacientes) presentaron hipofunción vestibular post IC, con normofunción previa. Solo 2 pacientes del total de la muestra presentaron sintomatología vestibular severa, con hipovalencias objetivadas en el post operatorio. Conclusiones: Se recomienda evaluar la función vestibular periférica en todos los pacientes candidatos a implante coclear, ya que de no existir otras consideraciones podría ser de utilidad a la hora de definir el lado a implantar.

Introduction: cochlear implant (IC) has become the most effective treatment for severe-deep neurosensory hearing loss. In recent years, indications have been extended, especially bilateral cases. This is why in the otological community the question arises as to how insertion of an array of intracochlear electrodes can affect the vestibular function. Material and method: A descriptive longitudinal study between december 2013 and july 2016. A review of 92 clinical records of patients who underwent cochlear implantation at the same center by the same team and met inclusion criteria were performed. Results: Of the 92 patients evaluated in the preoperative period, bilateral vestibular normobility: 56 patients (60.8%), bilateral vestibular hypofunction: 13 patients (14.1%), unilateral vestibular hypofunction: 21 patients (22.8%). Of the 46 ears assessed pre- and post-IC, 14.8% (7 patients) presented vestibular hypofunction post-IC, with previous normofunction. Only 2 patients from the total sample had severe vestibular symptoms, with postoperative hypovalences. Conclusions: It is recommended to evaluate the peripheral vestibular function in all patients candidates for cochlear implants since, if there were no other considerations, it might be useful to define the side to be implanted.

Introdução: el implante coclear (IC) se ha transformado no tratamento mais efectivo para a hipoacusia neurosensorial severa-profunda. Os últimos juros se han ampliado sus indicaciones, especialmente os casos bilaterais. É por isso que na comunidade otológica surge o interrogante de como pode afetar a função vestibular a inserção de uma matriz de eletrodos intracocleares. Material e método: Estudo descritivo, de tipo longitudinal, entre dezembro de 2013 e julho de 2016. Se realizou uma revisão de 92 historias clínicas de pacientes que se tornaram mais importantes um implante coclear em si mesmo por meio do mesmo e consideramos critérios de inclusão. Resultados: De los 92 pacientes avaliados no pré- operatório observado: Normofunção vestibular bilateral: 56 pacientes (60,8%), Hipofunção vestibular bilateral: 13 pacientes (14,1%), Hipofunção vestibular unilateral: 21 pacientes (22,8%). De los 46 oídos avaliados e pós IC, un 14,8% (7 pacientes) apresentaram hipofunção vestibular post IC, con normofunción previa. Solo 2 pacientes do total da amostra apresentaram sintomatologia vestibular severa, com hipovalencias objetivadas no pós-operatório. Conclusões: verificar a função vestibular periférica em todos os pacientes candidatos a implante coclear ya que não existe de outras formas consideradas poder ser de utilidade à hora de definir o lado a implantar.

Bilateral vestibulopathy.

The leading symptoms of bilateral vestibulopathy (BVP) are postural imbalance and unsteadiness of gait that worsens in darkness and on uneven ground. There are typically no symptoms while sitting or lying under static conditions. A minority of patients also have movement-induced oscillopsia, in particular while walking. The diagnosis of BVP is based on a bilaterally reduced or absent function of the vestibulo-ocular reflex (VOR). This deficit is diagnosed for the high-frequency range of the angular VOR by a bilaterally pathologic bedside head impulse test (HIT) and for the low-frequency range by a bilaterally reduced or absent caloric response. If the results of the bedside HIT are unclear, angular VOR function should be quantified by a video-oculography system (vHIT). An additional test supporting the diagnosis is dynamic visual acuity. Cervical and ocular vestibular-evoked myogenic potentials (c/oVEMP) may also be reduced or absent, indicating impaired otolith function. There are different subtypes of BVP depending on the affected anatomic structure and frequency range of the VOR deficit: impaired canal function in the low- and/or high-frequency VOR range only and/or otolith function only; the latter is very rare. The etiology of BVP remains unclear in more than 50% of patients: in these cases neurodegeneration is assumed. Frequent known causes are ototoxicity mainly due to gentamicin, bilateral Menière's disease, autoimmune diseases, meningitis and bilateral vestibular schwannoma, as well as an association with cerebellar degeneration (cerebellar ataxia, neuropathy, vestibular areflexia syndrome=CANVAS). In general, in the long term there is no improvement of vestibular function. There are four treatment options: first, detailed patient counseling to explain the cause, etiology, and consequences, as well as the course of the disease; second, daily vestibular exercises and balance training; third, if possible, treatment of the underlying cause, as in bilateral Menière's disease, meningitis, or autoimmune diseases; fourth, if possible, prevention, i.e., being very restrictive with the use of ototoxic substances, such as aminoglycosides. In the future vestibular implants may also be an option.