Vertigo Attacks Research Articles

CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report

BackgroundCLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by biallelic variants of CLCN2, which encodes chloride channel 2. Although CC2L is associated with distinct radiological features, it presents with a wide range of clinical features.Case presentationA 34-year-old woman presented to our hospital with a sudden onset of vertigo with headache. The patient reported intermittent headaches and tingling in both arms since the age of 31 years. On the first visit, the patient was alert and neurologically intact, except for slight hyperreflexia of the limbs without laterality. Head magnetic resonance imaging (MRI) showed high-intensity signals on axial T2-weighted fluid-attenuated inversion recovery and diffusion-weighted images bilaterally in the posterior limbs of the internal capsules, cerebral peduncles, superior and middle cerebellar peduncles, decussation of superior cerebellar peduncles, and central tegmental tract. All the patient’s symptoms were resolved or eased following supportive care. The patient stopped attending our hospital at the age of 46 years. At 51 years of age, the patient revisited our hospital because of the recurrence of vertigo, headache, and nausea. She did not present with any abnormalities by neurological examination. Head MRI showed widespread high-intensity signals similar to those 17 years ago. Genetic testing revealed compound heterozygous variants in CLCN2 (NM_004366.6): a novel variant c.1828 C > T, p.(Arg 610*) from her father and c.61dup, p.(Leu21Profs*27) from her mother. The patient was finally diagnosed with CC2L. She received supportive treatment, which made her symptoms manageable.ConclusionsThis is a detailed report of a patient with adult-onset CC2L who was successfully diagnosed and followed up with head MRI. This report provides new insights into CC2L and highlights its persistent, distinct, and stable characteristics observed in head MRI over one decade and the difficulty in forming a diagnosis without MRI when patients have minimal and common symptoms, such as in the present case.

12363 A Unique Case Of hüRthle Cell Carcinoma of the Thyroid Gland and Meningioma

Abstract Disclosure: I. Elsayed: None. R. Khan: None. H. Dhaliwal: None. Introduction: MEN1 gene is a tumor suppressor gene on chromosome 11q13 that encodes the nuclear protein menin, which regulates cell growth and cycle. When menin protein is deficient, MEN1 develops. MEN1 mutation usually involves tumors within the parathyroid glands, pancreas, or pituitary. Case Description: A 66-year-old male with past medical history of hypertension, hyperlipidemia, and coronary artery disease presented with sudden onset dizziness, nausea and vomiting for 1 hour. He had similar symptoms on and off for several months, however on the day of presentation, these symptoms were much more acute and severe. Stroke work-up was done including CT and CTA head which revealed a 1.7cm enhancing lesion to R temporal lobe with surrounding edema with an incidental 3 x 3 cm heterogeneous mass in the large portion of the right thyroid gland. Steroids initiated. MRI brain imaging revealed findings consistent with meningioma with local mass effect and pronounced parenchymal edema. Patient underwent successful resection of the mass and pathology confirmed diagnosis of Meningioma, WHO Grade 1. Ear Nose Throat specialist was consulted for incidental thyroid mass. Ultrasound guided Fine needle aspiration biopsy was, Pathology report returned suspicious for follicular neoplasm, Hürthle cell-type. Patient initially underwent right substernal semi-thyroidectomy. Pathology confirmed diagnosis of Oncocytic (Hürthle cell) carcinoma, minimally invasive, 4.3 cm with a single focus of capsular invasion, negative for lymphovascular invasion Discussion: This case presents a 66-year-old male with a rare coexistence of two distinct tumors: a meningioma and a Hürthle cell carcinoma of the thyroid gland. While meningiomas and Hürthle cell carcinoma are not commonly associated with MEN1 syndrome, there have been reports of atypical cases with unusual tumor associations. MEN1 is usually characterized by abnormalities in at least two affected endocrine glands, but variations can involve other endocrine and non-endocrine tumors as well. 25% of thyroid disease can be seen in MEN 1 syndrome; typically papillary thyroid cancer. Only one case in literature found Hürthle cell carcinoma and meningioma in the setting of MEN-1 phenotype. A second case unique case was Hürthle cell carcinoma with metastases to the meninges. The discovery of both a meningioma and a Hürthle cell carcinoma in this patient emphasizes the importance of clinicians being vigilant for the possibility of multiple neoplasms. This case highlights that there may be a relation between role of MEN1 with atypical neoplasms not commonly seen. Presentation: 6/2/2024

Perilymphatic enhancement and endolymphatic hydrops: MRI findings and clinical associations.

In this study, we aimed to summarize magnetic resonance imaging (MRI) findings of perilymphatic enhancement (PE) and endolymphatic hydrops (EH) of the inner ear, which are associated with vestibular and cochlear symptoms. We analyzed data on ears with definite Meniere's disease (MD), sensorineural hearing loss (SNHL), vertigo, and listening difficulties (LiD) from 508 ears of 254 patients who underwent contrast-enhanced 3-Tesla MRI between April 2021 and March 2023. We evaluated the degree of endolymphatic hydrops (EH), signal intensity ratios (SIRs) between the basal turns of the cochlea and cerebellum, and hearing levels for all ears. Ears with definite MD were also assessed for changes in vestibular and cochlear symptoms within 6 months. Ears with definite MD exhibited significantly higher percentages of EH in both the vestibule and cochlea compared with ears with other diseases. Furthermore, ears with MD or sensorineural hearing loss (SNHL) had significantly higher SIRs of PE compared with ears with other diseases or asymptomatic ears. Among patients with definite MD, those experiencing hearing fluctuations or vertigo attacks within the last 6 months had significantly higher SIRs of PE compared with those who did not experience any symptoms. Significant EH in the vestibule and cochlea was a major finding for the imaging diagnosis of definite MD. A high SIR of PE was a good indicator for assessing MD activity, reflecting vestibular and cochlear symptoms and fluctuations.Level of Evidence: 4.

Adverse Events and Efficacy of Acetazolamide in Meniere's Disease in a Vertigo Outpatient Clinic: A Retrospective Study.

Background Acetazolamide, a carbonic anhydrase inhibitor, is used in the treatment of several otolaryngological conditions, including Meniere's disease (MD). Despite its efficacy in reducing vertigo attacks, it is associated with a high rate of adverse events such as sensory disturbances, electrolyte imbalances, and liver dysfunction. The primary objective of this study is to evaluate the efficacy of acetazolamide in reducing vertigo attacks in MD patients. The secondary objective is to determine the incidence and severity of adverse drug events associated with acetazolamide treatment in this patient population. Methodology The study subjects were 70 patients who visited the vertigo outpatient clinic of our department from March 2019 to July 2024 and were diagnosed with definite or probable MD. Results A total of 15 cases had a history of acetazolamide prescription, with doses ranging from 125 to 750 mg/day. In total, 12 (80%) patients had symptoms of numbness in hands, feet, or other parts of the body, which caused discontinuation of medication after the initial prescription in five cases. Hypokalemia with liver dysfunction and hypokalemia with an open fracture of the distal end of the right radius due to staggering were observed in one patient each. In both cases of hypokalemia, Chinese herbal medicines containing licorice were prescribed in combination. Overall, 11 (73%) cases had a decrease in vertigo attacks. Hearing thresholds did not recover significantly after the prescription. Conclusions Although acetazolamide is effective in preventing vertigo attacks of MD, the rate of adverse events is high. Detailed instructions, careful dosage adjustment, periodic assessment of symptoms, and blood examinations for electrolyte and liver function are required.

Evaluation of serum vitamin D3 and total serum calcium in patients with posterior canal benign paroxysmal positional vertigo

BackgroundBenign paroxysmal positional vertigo is the most common neurootologic disorder, characterized by brief attacks of vertigo aggravated by certain head positions. During the last two decades, several studies were performed in different countries trying to find a relationship between benign paroxysmal positional vertigo and vitamin D3 (25 hydroxyvitamin D) deficiency.ObjectivesThis study aimed to find the relationship between vitamin D3 deficiency and total serum calcium with benign paroxysmal positional vertigo.Patients and methodsA case–control study conducted from January 2021 to December 2021, consisted of 62 participants; 30 patients with posterior canal benign paroxysmal positional vertigo and 32 healthy persons considered as a control group. The age and sex of both groups were matched, and diagnosis was made by history and examination (Dix-Hallpike’s maneuver). A blood sample was taken to evaluate serum vitamin D level and total serum calcium. The results were compared between both groups.ResultsThe mean levels of vitamin D3 in patients and control groups were 18.57 ± 9.88 ng/ml and 64.12 ± 24.64 ng/ml, respectively, with a statistically significant difference at p ≤ 0.0001. Moreover, regarding vitamin D3 deficiency below 20 ng/ml between patients and control groups, there was a statistically significant difference p = 0.001. Furthermore, there was no significant difference regarding total serum calcium between the two groups, the mean of both groups was 8.57 ± 0.68 mg/dl and 8.93 ± 0.92 mg/dl for patients and control, respectively, at p = 0.084.ConclusionThere might be an association between benign paroxysmal positional vertigo and vitamin D3 deficiency. Moreover, there was no significant difference concerning total serum calcium levels between the patient and control groups.

Native valve endocarditis caused by Corynebacterium striatum without underlying structural heart disease or indwelling cardiovascular medical devices: a case report

BackgroundCorynebacterium striatum (C. striatum) is a gram-positive, anaerobic bacillus found both environmentally and in human skin and nasal mucosa flora. It is reportedly the etiologic agent of community-acquired and nosocomial diseases and is significantly associated with bacteremia and medical endovascular devices. This is the rare case of mitral valve native valve endocarditis (NVE) caused by C. striatum occurring in a young adult without underlying structural heart disease or indwelling cardiovascular medical devices successfully treated with multidisciplinary therapy.Case presentationThe patient was a 28-year-old female with no medical history. She was transferred our hospital due to sudden onset of vertigo and vomit. A computed tomography on day 2 revealed the hydrocephalus due to the cerebellar infarction, and she underwent posterior fossa decompression for cerebellar infarction. An angiography on day 8 revealed a left vertebral artery dissection, which was suspected be the etiology. Afterwards, a sudden fever of 39 degrees developed on day 38. She was diagnosed with aspiration pneumonia and treated with ampicillin/sulbactam but was still febrile at the time of transfer for rehabilitation. Treatment continued with levofloxacin, the patient had no fever decline, and she was readmitted to our hospital. Readmission blood cultures (3/3 sets) revealed C. striatum, and an echocardiogram revealed an 11 mm long mitral valve vegetation, leading to NVE diagnosis. On the sixth illness day, cardiac failure symptoms manifested. Echocardiography revealed mitral valve rupture. She was transferred again on the 11th day of illness, during which time her mitral valve was replaced. C. striatum was detected in the vegetation. Following surgery, she returned to our hospital, and vancomycin administration continued. The patient was discharged after 31 total days of postoperative antimicrobial therapy. The patient experienced no exacerbations thereafter.ConclusionsWe report the rare case of C. striatum mitral valve NVE in a young adult without structural heart disease or indwelling cardiovascular devices.Clinical trial numberNot applicable.

Vestibular paroxysmia caused by a subarcuate artery: illustrative case.

Vestibular paroxysmia is defined by spontaneous, recurrent, short, paroxysmal episodes of vertigo. The authors present a case of vestibular paroxysmia caused by neurovascular compression of the vestibulocochlear nerve due to the subarcuate artery, which was successfully treated with microvascular decompression. A 46-year-old man first experienced vertigo attacks 5 years earlier. The attacks became more frequent, and left-sided tinnitus developed over the past 4 months, prompting a referral to our hospital. Carbamazepine treatment alleviated symptoms but had to be discontinued due to rash. Brain magnetic resonance imaging and angiography revealed that the left anterior inferior cerebellar artery was pressing on the cisternal segment of the left vestibulocochlear nerve. The authors diagnosed vestibular paroxysmia caused by neurovascular compression and performed microvascular decompression. During the operation, a subarcuate artery was identified as the offending vessel, with a prominent indentation on the vestibulocochlear nerve. The vertigo was completely relieved following surgery. Neurovascular compression of the vestibulocochlear nerve by the subarcuate artery can result in vestibular paroxysmia. https://thejns.org/doi/abs/10.3171/CASE24239.

The effectiveness of intratympanic injections with methylPREDnisolon versus placebo in the treatment of vertigo attacks in MENière’s disease (PREDMEN trial): a study protocol for a phase-3 multicentre, double-blinded, randomised, placebo-controlled trial

IntroductionIntratympanic corticosteroids are commonly used in the treatment of Menière’s disease (MD). However, few and small randomised controlled trials (RCT) on the effectiveness of intratympanic corticosteroids have been performed. A...

Bilateral Horizontal Canal Dysplasia Presenting as Hearing Loss With Recurrent Vertigo Mimicking Meniere's Disease.

We report an extremely rare case with bilateral horizontal semicircular canal (HSC) dysplasia presenting as hearing loss with recurrent vertigo mimicking Meniere's disease in a previously healthy 49-year-old male patient. HSC malformation is one of the common isolated developmental anomalies of the bony labyrinth usually associated with varying degree of hearing loss. He suffered from recurrent episodes of vertigo lasting more than 20 minutes accompanied by left hearing loss and tinnitus for 3 years. Pure-tone audiometry revealed a mild to moderate hearing loss at low frequencies in the left ear. Bithermal caloric testing revealed significant left-sided canal paralysis, but other vestibular testing was normal. Computerized tomography (CT) of the temporal bone showed the left HSC hypoplasia lacking a central bony island fused together with an enlarged vestibule, and right dysplasia, finally diagnosed with bilateral HSC dysplasia. Meniere's disease-like recurrent vertigo attack and hearing loss were suspected to be caused by subsequent endolymphatic hydrops which could be due to HSC dysplasia.

Semicircular canal and vestibular plugging in patients with Meniere’s disease: a preliminary study

Background Therapeutic options are limited for patients with intractable Meniere’s disease who present with recurrent episodes of vertigo and drop attacks. Aims/objectives To investigate the effectiveness and safety of simultaneous semicircular canal plugging and vestibular plugging in the treatment of Meniere’s disease with drop attacks. Material and methods This was a single-center study with a 6-month post-operative follow-up. It included five patients with intractable Meniere’s disease who presented with recurrent vertigo and drop attacks. All patients underwent surgery of semicircular canal plugging and vestibular plugging. The main outcome measures were vertigo control, drop attack control, hearing, and vestibular function; they were evaluated pre- and post-operatively. Results Of the five patients, none had a recurrence of drop attacks; four had no recurrence of vertigo, and one patient had one episode of vertigo. Two patients had residual hearing before surgery, which was preserved postoperatively. All patients showed altered results in vestibular tests. Conclusions Semicircular canal plugging and vestibular plugging appear to be an effective treatment for intractable Meniere’s disease presenting with recurrent vertigo and drop attacks. More studies are needed to confirm these results. Significance This novel surgical procedure can control vestibular symptoms of Meniere’s disease while hopefully preserving the hearing function.

Hydrops regression after vestibular denervation - longitudinal magnetic resonance study in patients with severe Meniere's disease treated with vestibular neurectomy.

The aim was to evaluate endolymphatic hydrops in patients with severe Ménière's disease (MD) before and after vestibular neurectomy to verify if vestibular denervation results in hydrops regression. Magnetic resonance imaging was performed after intravenous gadolinium injection in twenty patients with unilateral definite MD before and after the vestibular neurectomy. Clinical symptoms and audiovestibular tests were evaluated. Follow-up intervals ranged from 18 to 35 months after the surgery. Endolymphatic hydrops were visualized in all patients in the preoperative scans. After the vestibular neurectomy, all patients presented a complete resolution of vertigo episodes. Regression of the endolymphatic hydrops was observed in 35% and 15% of cases analyzing cochlea and vestibule, respectively. In 71.43% of patients with utricular herniation into the lateral semicircular canal, withdrawal of the hernia was visualized. Asymmetrical contrast enhancement in the cochlea regressed in 17.64% of cases. Analyzing all the parameters collectively, in 60% of patients, partial regression of at least one of the radiological signs was confirmed in the follow-up examination. No progression of the endolymphatic hydrops was visualized after the surgery in either the cochlea or the vestibule. Vestibular neurectomy is an effective treatment, eliminating vertigo attacks and improving the quality of life in patients with MD. Magnetic resonance imaging of the inner ear allows visualization of changes in endolymphatic hydrops degree after treatment. Regression of the endolymphatic hydrops after vestibular neurectomy suggests that vestibular denervation may effectively halt the progression of the endolymphatic space dilatation and result in hydrops regression.

Distinguishing Peripheral from Central Causes of Dizziness and Vertigo without using HINTS or STANDING

Three validated diagnostic algorithms for diagnosing patients with acute onset dizziness or vertigo (HINTS, HINTS-plus and STANDING) exist. All are extremely accurate in distinguishing peripheral from central causes of dizziness when done by experienced clinicians. However, uptake of these diagnostic tools in routine emergency medicine practice has been sub-optimal, in part, due to clinicians’ unease with the head impulse test, the most useful component contained of these algorithms. Use of these validated algorithms is the best way to accurately diagnose patients with acute dizziness. For clinicians who are unfamiliar with or uncomfortable performing or interpreting HINTS and STANDING, this article will suggest alternative approaches to help with accurate diagnosis of patients with acute dizziness or vertigo.

Prognosis Prediction of Sudden Sensorineural Hearing Loss Using Ensemble Artificial Intelligence Learning Models.

We used simple variables to construct prognostic prediction ensemble learning models for patients with sudden sensorineural hearing loss (SSNHL). Retrospectively study. Tertiary medical center. 1,572 patients with SSNHL. Prognostic. We selected four variables, namely, age, days after onset of hearing loss, vertigo, and type of hearing loss. We also compared the accuracy between different ensemble learning models based on the boosting, bagging, AdaBoost, and stacking algorithms. We enrolled 1,572 patients with SSNHL; 73.5% of them showed improving and 26.5% did not. Significant between-group differences were noted in terms of age ( p = 0.011), days after onset of hearing loss ( p < 0.001), and concurrent vertigo ( p < 0.001), indicating that the patients who showed improving to treatment were younger and had fewer days after onset and fewer vertigo symptoms. Among ensemble learning models, the AdaBoost algorithm, compared with the other algorithms, achieved higher accuracy (82.89%), higher precision (86.66%), a higher F1 score (89.20), and a larger area under the receiver operating characteristics curve (0.79), as indicated by test results of a dataset with 10 independent runs. Furthermore, Gini scores indicated that age and days after onset are two key parameters of the predictive model. The AdaBoost model is an effective model for predicting SSNHL. The use of simple parameters can increase its practicality and applicability in remote medical care. Moreover, age may be a key factor influencing prognosis.

Possible causes of vertigo attacks in Meniere’s disease

Various types of nystagmus during vertigo attacks in Meniere’s disease (MD) include direction-changing and non-direction-changing nystagmus. The direction-changing and non-direction-changing nystagmus may be associated with how the inner ear balance organs are influenced spatially and temporally. We hypothesized that the density difference inside the endolymph elicits the stereocilia inclination of the inner ear balance organs even if the density difference area does not directly touch the stereocilia. The direction of the nystagmus could change if the density difference area spreads around the inner ear balance organs. Numerous records of the nystagmus direction with new devices from the beginning of the nystagmus during the vertigo attacks will contribute to understanding how vertigo attacks appear in MD. The influence of the density difference may be associated with the degree of endolymphatic hydrops. Under significant endolymphatic hydrops, the volume effect due to the density difference becomes more prominent. The trabecular meshwork located in the perilymph in the superior part of the inner ear may maintain the perilymphatic space and prevent the enlargement of the endolymphatic space.

A Case Report Demonstrating Preservation of Vestibular Receptor Function after Transcochlear Removal of an Intracochlear Schwannoma with Extension to the Fundus of the Internal Auditory Canal

Preservation of function is an important goal during surgical management of cochleovestibular schwannomas. We here demonstrate the relief of vertigo and the preservation of function of all five vestibular receptors after removal of an intracochlear schwannoma with extension to the fundus of the internal auditory canal. A 61-year-old male with a five-year history of left-sided deafness, tinnitus, vertigo attacks, and an MRI consistent with an intracochlear schwannoma with limited extension through the modiolus to the fundus of the internal auditory canal (IAC) underwent transcanal, transcochlear total tumor removal and—due to a cerebrospinal fluid leak from the fundus of the IAC—revision surgery with lateral petrosectomy and blind sac closure of the external auditory canal. Despite complete removal of the cochlear partition of the inner ear (total cochlectomy), the patient’s vestibular receptors remained functional, and the vertigo symptoms disappeared. These results show that vestibular labyrinthine function may not only be preserved after partial or subtotal cochlectomy but also after complete cochlear removal. This further confirms the vestibular labyrinth’s robustness and encourages surgical management of transmodiolar schwannomas with limited extension to the fundus of the IAC.

Functional Level and Dynamic Posturography Results Two Years after Vestibular Neurectomy in Patients with Severe Meniere's Disease.

Objectives: The aim of this study was to evaluate the functional outcomes and balance compensation in patients with severe Meniere's disease after vestibular neurectomy. Methods: Pre- and postoperative results were analyzed in twenty patients with unilateral Meniere's disease before and two years after vestibular neurectomy. Clinical evaluation was performed using a subjective grading scale proposed by the American Academy of Otolaryngology-Head and Neck Surgery and the Dizziness Handicap Inventory. Sensory organization test results were analyzed to assess the balance system before and after the surgery. Results: All patients reported a complete resolution of vertigo attacks after the vestibular neurectomy; 95% of patients reported functional level improvement according to a scale proposed by the American Academy of Otolaryngology-Head and Neck Surgery, and the average score decreased from 4.5 to 1.6. Clinical improvement, evaluated with the Dizziness Handicap Inventory, was present in all patients, with the average result decreasing from 81.7 to 16.4. Analyzing both grading systems, differences between pre- and postoperative results were statistically significant. No statistically significant differences were found between the sensory organization test results before and after vestibular neurectomy. Significant correlations were found between a patient's age and postoperative results of the Dizziness Handicap Inventory and posturography. Conclusions: Vestibular neurectomy is an effective vertigo treatment in patients with severe Meniere's disease with no clinical improvement despite conservative treatment. It results in subjective physical, functional, and emotional improvement, enabling patients to return to daily activities and work. An appropriate qualification of patients and comprehensive preoperative evaluation are essential to obtaining satisfactory clinical outcomes.

Early Experience with a Novel Treatment for Menière's Disease: A Long Acting Dexamethasone Formulation for Precise Delivery to the Round Window Membrane.

To investigate the safety and feasibility of precise delivery of a long-acting gel formulation containing 6% dexamethasone (SPT-2101) to the round window membrane for the treatment of Menière's disease. Prospective, unblinded, cohort study. Tertiary care neurotology clinic. Adults 18 to 85 years with a diagnosis of unilateral definite Menière's disease per Barany society criteria. A single injection of a long-acting gel formulation under direct visualization into the round window niche. Procedure success rate, adverse events, and vertigo control. Vertigo control was measured with definitive vertigo days (DVDs), defined as any day with a vertigo attack lasting 20 minutes or longer. Ten subjects with unilateral Menière's disease were enrolled. Precise placement of SPT-2101 at the round window was achieved in all subjects with in-office microendoscopy. Adverse events included one tympanic membrane perforation, which healed spontaneously after the study, and two instances of otitis media, which resolved with antibiotics. The average number of DVDs was 7.6 during the baseline month, decreasing to 3.3 by month 1, 3.7 by month 2, and 1.9 by month 3. Seventy percent of subjects had zero DVDs during the third month after treatment. SPT-2101 delivery to the round window is safe and feasible, and controlled trials are warranted to formally assess efficacy.

Psychosomatic medicine for patients with Meniere's disease

Unpredictable attacks of vertigo with or without emesis, unilateral hearing loss, and tinnitus characterize the inner ear disorder that is classified as part of Meniere's disease (MD). While the pathological final stage with cochleovestibular hydrops seems to be certain as acomponent of MD, there are many uncertainties with respect to the multifactorial pathogenesis. It is certain that the disease can have effects in addition to the attack, which questions the treatment of things that were previously taken for granted. Persistent perceptual and postural dizziness [19] and reactive psychogenic dizziness [18] can occur, so that during the course of the disease, amixed picture of organic and psychogenic dizziness can develop. In addition, there is an increased anxiety and depression comorbidity. The course, suffering, and experience of the disease depend essentially on the processing and the active acquisition of coping strategies as well as-also the medical-treatment of the patient(s), who in their distress seek and need aknowledgeable and reliable practitioner at their side. The effects on the affected persons and suggestions for the most helpful treatment of Meniere's disease sufferers shall be described here in detail.

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS.Case presentationA 63-year-old Chinese male with late-onset gait disturbance, cognitive decline, and reversible attacks of fever, consciousness impairment, dizziness, vomiting, and urinary incontinence underwent neurological assessment and examinations, including laboratory tests, electroencephalogram test, imaging, skin biopsy, and genetic test. Brain MRI showed T2 hyperintensities in middle cerebellar peduncle and cerebrum, in addition to cerebellar atrophy and DWI hyperintensities along the corticomedullary junction. Lesions in the brainstem were observed. Skin biopsy showed p62-positive intranuclear inclusions. The possibilities of hypoglycemia, lactic acidosis, epileptic seizures, and cerebrovascular attacks were excluded. Genetic analysis revealed CGG repeat expansion in FMR1 gene, and the number of repeats was 111. The patient was finally diagnosed as FXTAS. He received supportive treatment as well as symptomatic treatment during hospitalization. His encephalitic symptoms were completely relieved within one week.ConclusionsThis is a detailed report of a case of FXTAS with reversible encephalitis-like episodes. This report provides new information for the possible and rare features of FXTAS, highlighting that encephalitis-like episodes are common in polyglycine diseases and unable to be used for differential diagnosis.

Do single-session Epley maneuvers treat benign paroxysmal positional vertigo?

Benign paroxysmal positional vertigo (BPPV) is the most common peripheral vestibular condition characterized by short-term vertigo attacks that significantly affect quality of life. Examine how well a single Epley maneuver worked in an outpatient setting for people with posterior canal benign paroxysmal positional vertigo (PC-BPPV) and whether they needed a second Dix-Hallpike maneuver. Prospective. Otorhinolaryngology department of a tertiary care center. Sociodemographic data, body mass index (BMI), and systemic disease history of 75 patients diagnosed with PC-BPPV were recorded, and their relationship with success rates after the modified Epley maneuver was analyzed. Detect cases that could not be repositioned with the diagnostic control Dix-Hallpike test performed 20 minutes after the modified Epley reposition maneuver in the same session in PC-BPPV patients. 75. Of the 75 patients, 31 were male (41.3%), 44 female (58.6%) with a mean (standard deviation) age of 58.6 (15.9) years age, 54.6% had one or more chronic diseases. BMI was 30 mg/kg2 and above in 31 patients (41.3%). The modified Epley maneuver was successful in 77.3%. No significant relationship was found between additional diseases or BMI in the patient group in whom the maneuver was unsuccessful. The success rates of repositioning maneuvers in treating patients diagnosed with PC-BPPV are high. However, more than a single maneuver is required in some resistant patients. Second diagnostic and repositioning maneuvers performed in the same session will reduce multiple hospital admissions. While it is helpful to repeat the maneuver in the patient group where it was unsuccessful, other factors causing the failure should be investigated. Lack of follow-up results of patients after 7-10 days.