Impact of Migraine and Vestibular Migraine on Audiometric Profiles and Quality of Life in Patients With Tinnitus.

OBJECTIVE: To investigate the clinical manifestations and complete auditory function in primary tinnitus patients with and without migraine or vestibular migraine. DESIGN: Retrospective case-control study. SETTING: A tertiary referral center. PARTICIPANTS: This study enrolled 298 patients from the Kaohsiung Veterans General Hospital. All patients were diagnosed with primary tinnitus by a neurotologist between April 2020 and August 2021. Patients were excluded if they had histories of chronic otitis media, idiopathic sudden sensorineural hearing loss, Ménière's disease, skull base neoplasm, or temporal bone trauma. INTERVENTIONS: Twenty-five-item Tinnitus Handicap Inventory (THI), speech audiometry including speech recognition threshold, most comfortable level, uncomfortable loudness levels, dynamic range, and pure-tone audiometry. MAIN OUTCOMES MEASURES: Objective hearing loss is defined as a mean threshold greater than 25 dB. Extremely elevated THI is defined as a score greater than 1 standard deviation above the mean THI. RESULTS: Among the 298 patients with tinnitus, 149 were women and 149 were men, with a mean age of 57.06 (range, 19.22-94.58) years.A total of 125 patients completed the THI questionnaire during their initial visit. The median THI score was 32 (95% confidence interval: 13.98-56.00), and the mean score was 34.99 with a standard deviation of 21.01. The sole contributing factor significantly associated with higher total THI score was the diagnosis of migraine or vestibular migraine (p < 0.001, odds ratio = 19.41).Tinnitus patients with migraine or vestibular migraine exhibited significantly lower mean pure-tone auditory thresholds (right 22.2 versus 29.5, p = 0.002; left 22.5 versus 30.4, p < 0.001), speech recognition threshold (right 20.0 versus 25.2, p = 0.016; left 20.2 versus 25.5, p = 0.019), and most comfortable levels values (right 46.1 versus 51.4, p = 0.007; left 46.9 versus 51.4, p = 0.021) compared with the tinnitus patients without migraine. CONCLUSIONS: In this population-based study, patients with primary tinnitus experienced significantly higher THI scores and exhibited concurrent symptoms, including dizziness/vertigo, cervicalgia, and migraine or vestibular migraine. Among these parameters, the diagnosis of migraine or vestibular migraine was the sole contributor to significant higher THI score.

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome. All had other associated immunopathological manifestations, mainly symptomatic hypogammaglobinaemia. They had a median of 8 (5-10) KS-associated manifestations. Pathogenic variants were detected in KMT2D gene without clustering, during the immunological work-up of AIC in three cases, and the clinical strategy to validate them is emphasized. Eight patients received second-line treatments, mainly rituximab and mycophenolate mofetil. With a median follow-up of 17 (2-31) years, 8/10 alive patients still needed treatment for AIC. First-line paediatricians should be able to recognize and confirm KS in children with ITP or multiple AIC, to provide early appropriate clinical management and specific long-term follow-up. The epigenetic immune dysregulation in KS opens exciting new perspectives.

Patient-Reported Outcomes After Vestibular Implantation for Bilateral Vestibular Hypofunction.

Importance: Standard-of-care treatment proves inadequate for many patients with bilateral vestibular hypofunction (BVH). Vestibular implantation is an emerging alternative. Objective: To examine patient-reported outcomes from prosthetic vestibular stimulation. Design, Setting, and Participants: The Multichannel Vestibular Implant (MVI) Early Feasibility Study is an ongoing prospective, nonrandomized, single-group, single-center cohort study conducted at Johns Hopkins Hospital that has been active since 2016 in which participants serve as their own controls. The study includes adults with severe or profound adult-onset BVH for at least 1 year and inadequate compensation despite standard-of-care treatment. As of March 2023, 12 candidates completed the eligibility screening process. Intervention: The MVI system electrically stimulates semicircular canal branches of the vestibular nerve to convey head rotation. Main Outcomes and Measures: Patient-reported outcome instruments assessing dizziness (Dizziness Handicap Inventory [DHI]) and vestibular-related disability (Vestibular Disorders-Activities of Daily Living [VADL]). Health-related quality of life (HRQOL) assessed using the Short Form-36 Utility (SF36U) and Health Utilities Index Mark 3 (HUI3), from which quality-adjusted life-years were computed. Results: Ten individuals (5 female [50%]; mean [SD] age, 58.5 [5.0] years; range, 51-66 years) underwent unilateral implantation. A control group of 10 trial applicants (5 female [50%]; mean [SD] age, 55.1 [8.5] years; range, 42-73 years) completed 6-month follow-up surveys after the initial application. After 0.5 years of continuous MVI use, a pooled mean (95% CI) of within-participant changes showed improvements in dizziness (DHI, -36; 95% CI, -55 to -18), vestibular disability (VADL, -1.7; 95% CI, -2.6 to -0.7), and HRQOL by SF36U (0.12; 95% CI, 0.07-0.17) but not HUI3 (0.02; 95% CI, -0.22 to 0.27). Improvements exceeded minimally important differences in the direction of benefit (exceeding 18, 0.65, and 0.03, respectively, for DHI, VADL, and SF36U). The control group reported no mean change in dizziness (DHI, -4; 95% CI, -10 to 2), vestibular disability (VADL, 0.1; 95% CI, -0.9 to 1.1) or HRQOL per SF36U (0; 95% CI, -0.06 to 0.05) but an increase in HRQOL per HUI3 (0.10; 95% CI, 0.04-0.16). Lifetime HRQOL gain for MVI users was estimated to be 1.7 quality-adjusted life-years (95% CI, 0.6-2.8) using SF36U and 1.4 (95% CI, -1.2 to 4.0) using HUI3. Conclusions and Relevance: This cohort study found that vestibular implant recipients report vestibular symptom improvements not reported by a control group. These patient-reported benefits support the use of vestibular implantation as a treatment for bilateral vestibular hypofunction.

[Dynamic visual acuity screening test results analysis of 25 patients with peripheral vertigo].

Objective:To observe the results of dynamic visual acuity screening tests in patients with peripheral vertigo and explore its clinical significance. Methods:The number of 48 healthy volunteers were enrolled as control group and 25 peripheral vertigo patients as experimental group. In the experimental group, there are 12 patients with vestibular neuritis, 1 patient with Hunt syndrome, 5 patients with sudden deafness with vertigo and 7 patients with bilateral vestibular dysfunction. Horizontal and vertical dynamic visual acuity screening tests were performed on them. The number of lost rows of horizontal and vertical dynamic visual acuity was compared between the control group and the experimental group to figure out if there is a statistical difference. The number of lost rows of horizontal and vertical dynamic visual acuity was compared within the experimental group to figure out if there is a statistical difference. The two groups of 18 cases of unilateral vestibular function decline and 7 cases of bilateral vestibular function decline in the experimental group were compared with the control group, and figure out if there is a statistical difference. Results:The median number of lost rows of horizontal dynamic visual acuity in 48 healthy volunteers was 1.5 and median number of lost rows of vertical dynamic visual acuity was 1.0 in the control group. The median number of lost rows of horizontal dynamic visual acuity of 26 healthy volunteers was 6 and median number of lost rows of vertical dynamic visual acuity was 5 in the experimental group. Compared to the experimental group, the number of lost rows both have statistical significance in horizontal and vertical dynamic visual acuity（P<0.01）. The comparison of horizontal and vertical lost rows within the test group also have statistical significance（P<0.01）. Twenty five patients with exceptional vestibular disease in the experimental group were divided into unilateral vestibular function reduction group（n=18） and bilateral vestibular function reduction group（n=7）. Compared with the control group, there was significant differences in the number of horizontal and vertical lost rows（P<0.01） within the three groups. After pairwise comparison, the number of lost rows of horizontal and vertical in the control group was significantly lower than that in the unilateral vestibular function reduction group and the bilateral vestibular function reduction group（P<0.01）. There was a highly significant correlation between the number of horizontally lost rows of DVA and the mean vHIT values of bilateral horizontal semicircular canals in 25 patients（P<0.01）; and a highly significant correlation between the number of vertically lost rows of DVA and the mean vHIT values of vertical semicircular canals in 4 groups bilaterally（P<0.01）. Conclusion:The Dynamic Visual Acuity Screening Test is a useful addition to existing tests of peripheral vestibular function, particularly the vHIT test, and provides a rapid assessment of the extent of 2 Hz VOR impairment in patients with reduced vestibular function.

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.

BACKGROUND: Kabuki Syndrome is a rare and genetically heterogenous condition with both ophthalmic and systemic complications and typical facial features. We detail the macular phenotype in two unrelated patients with Kabuki syndrome due to de novo nonsense variants in KMT2D, one novel. A follow-up of 10 years is reported. Pathogenicity of both de novo nonsense variants is analyzed. METHODS: Four eyes of two young patients were studied by full clinical examination, kinetic perimetry, short wavelength autofluorescence, full field (ff) ERGs, and spectral-domain optical coherence tomography (SD-OCT). One patient had adaptive optic (AO) imaging. Whole exome sequencing was performed in both patients. RESULTS: Both patients had de novo nonsense variants in KMTD2. One patient had c.14843C>G; p. (Ser4948ter) novel variant and the second c.11119C>T; p. (Arg3707ter). Both had a stable Snellen visual acuity of 0.2-0.3. The retinal multimodal imaging demonstrated abnormalities at the fovea in both eyes: hyperreflectivity to blue light and a well-delimited gap-disruption of ellipsoid and interdigitation layer on OCT. The dark area on AO imaging is presumed to be absent for, or with structural change to photoreceptors. The ff ERGs and kinetic visual fields were normal. The foveal findings remained stable over several years. CONCLUSION: Kabuki syndrome-related maculopathy is a distinct loss of photoreceptors at the fovea as shown by multimodal imaging including, for the first time, AO imaging. This report adds to the literature of only one case with maculopathy with two additional macular dystrophies in patients with Kabuki syndrome. Although underestimated, these cases further raise awareness of the potential impact of retinal manifestations of Kabuki syndrome not only among ophthalmologists but also other healthcare professionals involved in the care of patients with this multisystem disorder.

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Kabuki syndrome (KS) is characterized by growth impairment, psychomotor delay, congenital heart disease, and distinctive facial features. KMT2D and KDM6A have been identified as the causative genes of KS. Craniosynostosis (CS) has been reported in individuals with KS; however, its prevalence and clinical implications remain unclear. In this retrospective study, we investigated the occurrence of CS in individuals with genetically diagnosed KS and examined its clinical significance. Among 42 individuals with genetically diagnosed KS, 21 (50%) exhibited CS, with 10 individuals requiring cranioplasty. No significant differences were observed based on sex, causative gene, and molecular consequence among individuals with KS who exhibited CS. Both individuals who underwent evaluation with three-dimensional computed tomography (3DCT) and those who required surgery tended to exhibit cranial dysmorphology. Notably, in several individuals, CS was diagnosed before KS, suggesting that CS could be one of the clinical features by which clinicians can diagnose KS. This study highlights that CS is one of the noteworthy complications in KS, emphasizing the importance of monitoring cranial deformities in the health management of individuals with KS. The findings suggest that in individuals where CS is a concern, conducting 3DCT evaluations for CS and digital impressions are crucial.

[The six most frequent peripheral vestibular syndromes]. / Die sechs häufigsten peripheren vestibulären Syndrome.

Three forms of peripheral vestibular disorders, each with its typical symptoms and clinical signs, can be differentiated functionally, anatomically and pathophysiologically: 1. inadequate unilateral paroxysmal stimulation or rarely inhibition of the peripheral vestibular system, e. g., BPPV, Menière's disease, vestibular paroxysmia or syndrome of the third mobile windows; 2. acute unilateral vestibulopathy leading to an acute vestibular tone imbalance manifesting as an acute peripheral vestibular syndrome; and 3. loss or impairment of function of the vestibular nerve and/or labyrinth: bilateral vestibulopathy. For all of these diseases, current diagnostic criteria by the Bárány-Society are available with a high clinical and scientific impact, also for clinical trials. The treatment depends on the underlying disease. It basically consists of 5 principles: 1. Explaining the symptoms and signs, pathophysiology, aetiology and treatment options to the patient; this is important for compliance, adherence and persistence. 2. Physical therapy: A) For BPPV specific liberatory maneuvers, depending on canal involved. Posterior canal: The new SémontPLUS maneuver is superior to the regular Sémont and Epley maneuvers; horizontal canal: the modified roll-maneuver; anterior canal the modified Yacovino-maneuver; 3. Symptomatic or causative drug therapy. There is still a deficit of placebo-controlled clinical trials so that the level of evidence for pharmacotherapy is most often low. 4. Surgery, mainly for the syndrome of the third mobile windows. 5. Psychotherapeutic measures for secondary functional dizziness.

Prevalence of perilymphatic fistula in patients with sudden-onset sensorineural hearing loss as diagnosed by Cochlin-tomoprotein (CTP) biomarker detection: its association with age, hearing severity, and treatment outcomes.

PURPOSE: To determine the prevalence of perilymphatic fistula (PLF) in sudden-onset sensorineural hearing loss (SSNHL) patients by employing the Cochlin-tomoprotein (CTP) detection test, a specific diagnostic marker for perilymph. We also analyzed the clinical characteristics associated with hearing outcomes in this cohort. METHODS: A total of 74 eligible patients were prospectively enrolled. Following myringotomy, middle ear lavage (MEL) samples underwent the CTP test to identify perilymph leakage. Intratympanic dexamethasone (IT-DEX) therapy was administered, and hearing outcomes were assessed. Control groups comprised patients with chronic otitis media (n = 40) and non-inflammatory middle ears (n = 51) with concurrent MEL sample collection. RESULTS: CTP was positive in 16 (22%) patients. No control samples showed positive results. Multiple regression analysis indicated that age and pre-treatment hearing levels significantly contributed to the CTP value. We found a positive correlation between CTP values, age, and pre-treatment pure-tone averages. Notably, CTP values in SSNHL cases aged 60 and above were significantly higher than in those below 60 years. Patients with positive CTP had significantly worse recovery rates after IT-DEX treatment. CONCLUSION: This study is the first prospective investigation demonstrating a positive relationship between CTP values, age, and hearing severity in SSNHL, indicating that PLF might be the essential cause of SSNHL, particularly in the elderly. Our findings suggest that IT-DEX may be less effective for PLF-associated SSNHL. Future research could reveal that PLF repair surgery is a viable treatment strategy for SSNHL. This study was registered under the UMIN Clinical Trials Registry (UMIN000010837) on 30/May/2013.

Neurotological emergencies: a narrative review.

INTRODUCTION: Vestibular symptoms, including vertigo, dizziness, and gait unsteadiness, are a frequent reason of urgent medical assistance. Their causes are numerous and diverse, including neurological, otorhinolaryngological, and systemic diseases. Therefore, following a systematic approach is essential to differentiate striking but benign conditions from others that can compromise the patient's life. This study is intended to review vestibular disorders from a practical perspective and provide guidance to physicians involved in the emergency care of patients with vestibular symptoms. MATERIALS AND METHODS: A narrative review was performed, revisiting the main causes of vestibular disorders. RESULTS: Based on the speed of onset, duration, and history of similar episodes in the past, vestibular disorders can be categorized into three syndromic entities (acute, recurrent, and chronic vestibular syndromes). The most representative conditions pertaining to each group were reviewed (including their diagnosis and treatment) and a practical algorithm was proposed for their correct management in the acute care setting. CONCLUSIONS: Carrying out a correct categorization of the vestibular disorders is essential to avoid diagnostic pitfalls. This review provides useful tools for clinicians to approach their patients with vestibular symptoms at the emergency room.

Validity and reliability of the Niigata PPPD Questionnaire in a Western population.

PURPOSE: To analyze the psychometric properties of the Niigata Questionnaire (NPQ) for use in a European population with persistent postural-perceptual dizziness (PPPD). METHODS: Observational study included 140 patients with different vestibular conditions. Construct validity, internal consistency and concurrent validity were analyzed. Intra-class correlation coefficient (ICC), standard error of measurement (SEM) and minimal detectable change (MDC) were calculated. Receiver operating characteristic (ROC) curve was used to test diagnostic values. RESULTS: Of the 140 patients, 47 had a diagnosis of PPPD. Factorial analysis showed a single-factor structure and concurrent validity analysis showed strong correlations with other instruments. Cronbach alpha coefficients of 0.938 for the total score, 0.869 for the standing and gait subscale, 0.803 for the subscale of movements and 0.852 for the visual stimulation subscale were obtained. The reproducibility was substantial except for the standing subscale, which could be considered moderate. For the standing, movement and visual stimulation subscales and for the total score, the SEM was 3.27, 2.41, 2.50 and 6.63, respectively, and the MDC was 6.40, 4.72, 4.91 and 12.99, respectively. The NPQ total score showed an area under the curve (AUC) of 0.661, a sensitivity of 72.34 and a specificity of 55.91 for discriminating between PPPD and other vestibular disorders. CONCLUSIONS: The NPQ is feasible for use in a Western population and presents a uni-factorial structure, high internal consistency and strong correlation with other instruments. The reliability can be considered substantial. The NPQ has low accuracy in discriminating between subjects with or without PPPD.

[Expert consensus on the diagnosis of isolated otolith dysfunction].

Isolated otolith dysfunction(iOD) involves a group of unexplained vestibular syndromes that manifest clinically as a sense of translation, tilting or floating, and blurred vision with head movement, with normal semicircular canal function but abnormal otolith function on laboratory vestibular testing. As vestibular medicine has gained widespread popularity in recent years, increasing attention has also been paid to iOD and case reports, clinical studies and diagnostic criteria have been published. However, there is no consensus document to guide the diagnosis of this disease in China. In this context, the Special Committee on Vertigo of China Medical Education Association organized a group of domestic experts in vestibular medicine and formulated this diagnostic consensus after thorough discussion based on the latest evidence in China and abroad, in order to promote the best clinical practice for iOD.

[Further exploration of the classification and clinical value of head-shaking nystagmus].

Objective:To investigate the classification of head shaking nystagmus（HSN） and its clinical value in vestibular peripheral diseases. Methods:Clinical data of 198 patients with peripheral vestibular disorders presenting with HSN were retrospectively analyzed. Video Nystagmograph（VNG） was applied to detect spontaneous nystagmus（SN）, HSN, and Caloric Test（CT）. The intensity and direction of SN and HSN as well as the unilateral weakness（UW） and direction preponderance（DP） values in caloric test was analyzed in patients. Results:Among the 198 patients with vestibular peripheral disease, there were 105 males and 93 females, with an average age of（49.1±14.4） years （range: 14-87 years）. One hundred and thirty seven patients were diagnosed as Vestibular Neuritis（VN）, 12 as Meniere's Disease（MD）, 41 as sudden deafness（SD） and 8 as Hunt's syndrome accompanied by vertigo. Among them, there were 116 patients in the acute phase, including 68 cases（58.6%） with decreased HSN, 4 cases（3.4%） with increased HSN, 5 cases（4.3%） with biphasic HSN, 38 cases（32.8%） with unchanged HSN, and 1 case（0.9%） with perverted HSN. There were 82 cases in the non-acute phase, 51 cases（62.2%） with decreased HSN, 3 cases（3.6%） with increased HSN, 9 cases（11.0%） with biphasic HSN, and 19 cases（23.2%） with unchanged HSN. In biphasic HSN, the intensity of phase I nystagmus was usually greater than that of phase II, and the difference was statistically significant（P<0.01）. There was no correlation between HSN type and course of disease or DP value. The intensity of HSN was negatively correlated with the course of disease（r=-0.320, P<0.001） and positively correlated with DP value（r=0.364, P<0.001）, respectively. The intensity of unchanged nystagmus and spontaneous nystagmus were（8.0±5.7） °/s and（8.5±6.4）°/s, respectively. There was no statistically significant difference in the intensity of nystagmus before and after shaking the head. Conclusion:HSN can be classified into five types and could be regarded as a potential SN within a specific frequency range （mid-frequency）. Similarly, SN could also be considered as a common sign of unilateral vestibular impairment at different frequencies. HSN intensity can reflect the dynamic process of vestibular compensation, and is valuable for assessing the frequency of damage in peripheral vestibular diseases and monitoring the progress of vestibular rehabilitation.

Persistent Postural-Perceptual Dizziness (PPPD) and quality of life: a cross-sectional study.

PURPOSE: To determine if Persistent Postural-Perceptual Dizziness (PPPD) is associated with increased burden of dizziness and quality of life. Secondly, if this association is present, to determine if it can be explained by differences in anxiety and/or depression between patients with PPPD and dizzy patients without PPPD. METHODS: Cross-sectional study performed in an outpatient otolaryngology clinic, including patients 18-67 years referred from primary care for suspected vestibular disease with chronic dizziness. Patients underwent clinical examination and completed the following questionnaires: Dizziness Handicap Inventory (DHI), RAND-12 Health Status Inventory and Hospital Anxiety and Depression Scale (HADS). Scores in DHI and RAND-12 were compared between patients diagnosed with PPPD and patients without PPPD. RESULTS: 202 patients were included. 150 (74%) were women and 37 (18%) were diagnosed with PPPD. Patients in the PPPD group had increased burden of dizziness and reduced quality of life (QoL) as shown by a higher mean DHI score (49.2 vs. 30.8; p < 0.001) and reduced mean RAND-12 physical score (39.0 vs. 44.6; p = 0.004). After adjusting for age, gender and HADS, PPPD was associated with a 15.3 (p < 0.001) points increase in DHI score, and a 4.0 (p = 0.020) points decrease in RAND-12 physical score. CONCLUSION: Patients with PPPD have a higher burden of dizziness and a lower physical health-related quality of life (HRQoL) compared to other dizzy patients. The difference was evident also after adjusting for anxiety and depression, illustrating how PPPD is a different entity than these common psychiatric conditions.

[Research progress on the questionnaire related to persistent postural-perceptual dizziness].

Persistent postural-perceptual dizziness（PPPD） is the most common chronic vestibular disease, the clinical manifestation is dizziness, unstable and non-rotational dizziness for three months or more. And the symptom is exacerbated by upright posture, active or passive movement, and complex visual stimuli. In addition, PPPD is a functional disease, so routine vestibular function tests and imaging tests are often negative. According to the diagnostic criteria established by the Barany Association, the diagnosis of PPPD often relies on history. This article provides a review of PPPD-related questionnaires.

[Discussion on diagnosis and treatment of dizziness from cases].

Dizziness or vertigo is a common clinical symptom, and its underlying etiology is complex. Many clinicians are confused about its diagnosis and treatment. This article presents a case about chronic vestibular syndrome. And case appreciation and academic discussion are conducted by well-known domestic neurologists and otologists, so as to provide a good thinking model and basic ideas for the diagnosis and treatment of dizziness or vertigo, hoping to further improve the diagnosis and treatment level among clinicians.

Hallazgos vestibulares y oculomotores en migraña vestibular: una revisión actualizada / Vestibular and Oculomotor findings in vestibular migraine: an updated review

La migraña vestibular es una de las etiologías más frecuentes del síndrome vestibular episódico a nivel mundial. Presenta varias hipótesis de patofisiología, principalmente a nivel de sistema vestibular central y genético. Su diagnóstico es fundamentalmente clínico, pero se han observado alteraciones a nivel de la función vestibular y de las pruebas oculomotoras. Los hallazgos clínicos no solo están presentes en el momento de la crisis, sino también se han observado en intervalos asintomáticos. La paresia unilateral en la prueba calórica suele ser más frecuente que una ganancia baja del reflejo vestíbulo-ocular del canal lateral en la videonistagmografía, sin embargo, existe una tasa elevada de discordancia entre ambas pruebas. Respecto a la prueba de estudio del movimiento ocular, se han observado alteraciones en el seguimiento pendular, movimiento sacádico, nistagmo optocinético, nistagmo evocado por la mirada, nistagmo espontáneo y nistagmo posicional. Es frecuente observar que el nistagmo provocado por cambios posicionales presenta características centrales durante la crisis de migraña vestibular, pero también se pueden presentar en periodos libres de síntomas en este grupo de pacientes.

Vestibular migraine is one of the most frequent etiologies of episodic vestibular syndrome worldwide. It presents several pathophysiology hypotheses, mainly at the central vestibular system and genetic level. Its diagnosis is fundamentally clinical, but changes in vestibular function and oculomotor tests have been observed. Clinical findings are present not only during the crisis, but also have been seen in the symptom-free interval. Unilateral paresis on caloric testing is usually more common than low gain of the vestibulo-ocular reflex in the lateral canal on videonystagmography, however, there is a high rate of discrepancy between these tests. Regarding the eye movement study test, alterations have been seen in pendulum tracking, saccadic movement, optokinetic nystagmus, gaze-evoked nystagmus, spontaneous nystagmus and positional nystagmus. It is common to observe that nystagmus caused by positional changes has central features during vestibular migraine attacks, but it can also be seen in the symptom-free interval in this group of patients.

[Congenital hyperinsulinism as a part of Kabuki syndrome].

Kabuki syndrome is a rare hereditary disease characterized by distinctive facial features, skeletal abnormalities, mental retardation, developmental delay, and anomalies in multiple organ systems development.Congenital hyperinsulinism is a rare manifestation of his Kabuki syndrome. However, early diagnosis is crucial to prevent neurological complications of hypoglycemia.There are 2 types of Kabuki Syndrome depending on severity of symptoms. Kabuki syndrome Type 1 is associated with heterozygous mutations in gene KMT2D. Kabuki syndrome Type 2 is inherited in an X-linked manner. It's associated with heterozygous mutations in gene KDM6A and characterized by more severe course of the disease.This paper presents 2 cases of children with congenital hyperinsulinism as the feature of Kabuki syndrome Type 1 and Type 2.

Systemic Presentation of Somatic TET2 Mutated B-Cell Lymphoma in a Child With Kabuki Syndrome and a Germline KMT2D Variant.

OBJECTIVES: Kabuki syndrome (KS) is a rare congenital malformation syndrome associated with germline KMT2D mutations. Recurrent somatic mutations in KMT2D have frequently been observed in B-cell lymphoma, but limited studies are available that evaluate the genetic landscape of B-cell lymphomas in the setting of KS. METHODS: We describe a unique case of B-cell lymphoma that illustrates histologic features of pediatric-type follicular lymphoma (FL) in a young patient with KS and autoimmune disease who showed a systemic presentation of widespread lymphadenopathy and clonal lymphocytosis. RESULTS: We present the first reported case of a young patient with KS harboring a germline KMT2D variant and presenting with a systemic CD10-positive, BCL2-negative B-cell lymphoma of follicle center origin illustrating histologic features of pediatric-type FL. Targeted next-generation sequencing of the B-cell lymphoma showed somatic TET2 and subclonal CXCR4 variants. These findings suggest that abnormal epigenetic regulation caused by alterations in KMT2D and TET2 may have played critical roles in promoting lymphomagenesis in this patient. CONCLUSIONS: This unique case presentation highlights the importance of close clinical monitoring and the value of clinical context in the diagnosis of pediatric FL-like lesions in patients with KS.

Vestibular Migraine: Cognitive Dysfunction, Mobility, Falls.

OBJECTIVE: Recent evidence has shown that vestibular migraine is strongly associated with cognitive difficulties. However, limited data exist on real-world effects of that dysfunction. The objective of this study is to understand the epidemiology of cognitive dysfunction with vestibular migraine and associated sequelae using National Health Interview Survey data. STUDY DESIGN: Randomized, population-based survey study of US adults. SETTING: We generated a case definition approximating probable vestibular migraine based on Bárány Society criteria and validated that definition in a tertiary care vestibular clinic. PATIENTS: Adult respondents to the 2016 NHIS, which queries a representative sample of the civilian, noninstitutionalized US population. INTERVENTION: Diagnostic. MAIN OUTCOME MEASURES: We evaluated incidence of self-reported cognitive dysfunction with vestibular migraine and whether individuals were more likely to have impaired mobility, falls, and work absenteeism than those without either condition. RESULTS: Among individuals with vestibular migraine, 40% reported "some" and 12% reported "a lot" of difficulty thinking versus 13% and 2% of those without vestibular migraine, respectively. Vestibular migraine sufferers were more likely to have difficulty thinking or remembering compared with respondents without dizziness (odds ratio, 7.43; 95% confidence interval, 6.06-9.10; p < 0.001) when controlled for age, sex, education, stroke, smoking, heart disease, and diabetes. Individuals with both vestibular migraine and cognitive dysfunction had fivefold increased odds of falls and 10-fold increased odds of mobility issues compared with those without either condition. Furthermore, individuals with both vestibular migraine and cognitive dysfunction missed 12.8 more days of work compared to those without either condition. CONCLUSION: Our findings indicate vestibular migraine is not only associated with cognitive dysfunction, but they are together associated with mobility issues, fall risk, and work absenteeism.