Dentatorubral-pallidoluysian atrophy: a case report and review of literature.

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disease. It is a rare disease in the world. Therefore, sharing clinical encounters of this case can deepen global awareness and understanding of the disease. CASE PRESENTATION: The patient was a 34-year-old male of Han nationality who was unmarried. The patient was admitted owing to weakness of the left lower limb with walking instability for 2 months and aggravation for 1 month. There was no dizziness, headache, numbness of limbs, convulsions, nausea, vomiting, abdominal pain, ataxia, nausea, vomiting, or abdominal pain. No nausea, vomiting, diarrhea, abdominal distension, tinnitus, hearing loss, fever, cough, expectoration. Personal history: worked in Cambodia 5 years ago, worked in Dubai 3 years ago, engaged in computer work, smoking or drinking habits. The patient was unmarried. Family history: the mother had symptoms similar to walking unsteadily (undiagnosed). Positive signs include a wide-base gait with a rotatory nystagmus that jumps upward in both eyes. Bilateral finger-nose instability test was quasi-positive, rapid alternating test was negative, and eye closure tolerance test was positive. Tendon reflexes were active in both upper limbs and hyperreflexia in both lower limbs. Stability of the heel, knee, and tibia. Genetic testing showed that the number of repeats in the dentatorubral-pallidoluysian atrophy ATN1 gene was 18 and 62, and the (CAG)n repeat sequence in the ATN1 gene was abnormal, with a repeat number of 62, and the patient was a pathogenic variant. The patient was diagnosed with dentatorubral-pallidoluysian atrophy. Dentatorubral-pallidoluysian atrophy remains a progressive neurodegenerative disease with no effective treatment. At present, the proband is taking 5 mg of buspirone three times a day, which has been reported to improve the symptoms. The patient was followed up for 6 months after taking buspirone, and there was no significant improvement in the temporary symptoms. At present, there are few cases of dentatorubral-pallidoluysian atrophy, and the characteristics of nystagmus in this disease have not been proposed in the past. This case reported the unusual presentation of nystagmus. CONCLUSION: Dentatorubral-pallidoluygur atrophy is a rare neurodegenerative disease with autosomal dominant inheritance. To the best of our knowledge, our present case report is the first case report of dentatorubral-pallidoluygur atrophy with specific nystagmus. We describe the special eye shake and its positive signs to increase dentatorubral-pallidoluysian atrophy clinical positive signs.

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.

Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum.

This case report details the clinical manifestations observed in a 22-year-old male diagnosed with ocular albinism (OA). The patient underwent a comprehensive eye examination by one of the authors, revealing clinical features such as skin depigmentation, telecanthus, iris transillumination, nystagmus, and foveal hypoplasia. This report underscores the importance of a thorough clinical examination and genetic testing for accurate diagnosis, effective management, and appropriate counseling of patients with OA.

Automated visual acuity estimation by optokinetic nystagmus using a stepped sweep stimulus.

PURPOSE: To describe an automatic system for objective measurement of visual acuity (VA) using optokinetic nystagmus (OKN). This pilot study tested the system's sensitivity and specificity for detecting reduced VA in healthy adults by comparing VA-OKN to VA with an Early Treatment of Diabetic Retinopathy Study (ETDRS) chart (VA-ETDRS). METHODS: Adult participants (age 30 ± 12 years) with either reduced VA (n = 11, VA-ETDRS > 0.20 logMAR) or normal VA (n = 12, VA-ETDRS ≤ 0.20 logMAR) completed monocular VA-OKN measurements in each eye. The VA-OKN stimulus was an array of drifting (5°/s) vanishing discs presented in descending/ascending size order (0.00-1.00 logMAR in 0.10 steps). The stimulus was stepped every 2 s, and 10 sweeps were shown per eye (five ascending and five descending). Eye-tracking data determined when OKN activity ceased (descending sweep) or began (ascending sweep), which was used to determine VA-OKN for each sweep. The estimates were averaged across sweeps to produce an automated VA-OKN. The automated sweeps were then provided in randomised order to a reviewer blinded to the VA-ETDRS findings who determined a final VA-OKN for an eye. RESULTS: A single randomly selected eye from each observer was used for analysis. The sensitivity and specificity of VA-OKN using the same 0.20 logMAR threshold as VA-ETDRS was 100%. Comparisons between the VA-OKN and VA-ETDRS measures were made for participants in the reduced VA group. There was no significant difference between VA-OKN and VA-ETDRS (p = 0.55) and the two measures produced comparable values (r2 = 0.84, 95% limits of agreement = 0.19 logMAR, intra-class correlation coefficient = 0.90 [95% CI:0.68-0.97]). CONCLUSIONS: Visual acuity using optokinetic nystagmus correctly identified a VA deficit in adults and for those with a VA deficit, VA-OKN was strongly correlated with the gold-standard clinical measure of VA. OKN is a promising method which has the potential for use in cognitively impaired adults and pre-verbal children.

Eyes wide shut: Horizontal direction changing nystagmus in a left cerebellar-medullary stroke. Favourable outcome after thrombolysis.

OBJECTIVE: To describe a patient with a posterior inferior cerebellar artery stroke exhibiting a horizontal direction changing nystagmus with a complex clinical phenotype. MATERIALS AND METHODS: A 78-year-old man presented with acute vertigo and gait imbalance. He was dysphagic and ataxic on the left side. He had a fast, small-amplitude right-beating nystagmus in the primary gaze position and in the gaze towards the right. Towards the left, a coarse left-beating nystagmus was seen. RESULTS: Radiographic leftwards ocular deviation was evident on admission CT. Intravenous fibrinolysis was administered. 48-hour Holter-EKG, transthoracic ecochardiogram, and transcranial doppler were unremarkable. Brain MRI demonstrated an acute stroke involving the left medulla and cerebellum, mainly within the territory of the ipsilateral posterior inferior cerebellar artery. DISCUSSION AND CONCLUSIONS: Horizontal direction changing nystagmus can arise secondary to central lesions as brainstem strokes, it can be spontaneous or gaze-evoked and characteristically remains unchanged after fixation removal. In our case, the vestibular spontaneous and contralesional nystagmus was likely related to lower-brainstem damage; on the other hand, the ipsilesional gaze-evoked nystagmus might be related to lesions of the nucleus prepositus hypoglossi and/or cerebellum, both playing an important role in gaze-holding. Our findings suggest that central lesions with concurrent involvement of the ipsilateral vestibulo-ocular and horizontal gaze-holding pathways can cause direction changing nystagmus with complex phenotypes.

Role of gaze behaviors, body movements, and bicycle movements during cycling on a straight and narrow path.

Cycling requires the integration of gaze behaviors, body movements, and bicycle movements. However, whether these movements contribute to skilled cycling performance, such as cycling on straight and narrow paths are uncertain. The present study aimed to differentiate optokinetic nystagmus (OKN) from vestibulo-ocular reflex (VOR) that characterize the relationship between eye and head movements during cycling on straight and narrow path, and to identify gaze behaviors, body movements, and bicycle movements that contribute to cycling performance. Nineteen participants with no prior competitive experience cycled three times on a 12-cm wide path. The participants were asked to avoid deviating from the path as much as possible. The measured variables were gaze behavior in a sagittal plane, body movement, and bicycle movement. As a result, OKN was observed among 16 of the 19 participants. The cross-correlation between the eye and head did not show negative value, indicating the absence of VOR. These results suggest that the participants moved their eyes while keeping their heads stable during cycling on a straight and narrow path. In the results of the multiple regression analysis, the variables with small standard deviations (SD) of the steering angle and upward eye position were related to a lower deviation from the path. These results suggest that a small SD of the steering angle and directed gaze in the forward direction may contribute to skilled cycling.

Unraveling the Puzzle: A Case of Intricate Neurological Presentation Attributable to Hypomagnesemia.

Hypomagnesemia can occasionally present with severe neurological deficiencies, and it is usually attributed to an underlying renal and/or gastrointestinal pathology. Rarely, patients may present with neurological symptoms in the absence of an obvious cause. Our case highlights the importance of considering hypomagnesemia as a primary cause of those presenting with severe neurological deficits in an intensive care unit setting, as well as the significance of conducting a thorough social and medical history on these patients to elucidate their underlying causes. We discuss the case of a 48-year-old Caucasian male who acutely presented with seizures, tremors, visual hallucinations, diplopia, personality changes, and ataxia with recurring severely low magnesium (0.4 mg/dL) at times in the absence of renal, gastrointestinal, hormonal, infectious, or autoimmune pathology.

Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene.

Background: This study aimed to assess the effectiveness of surgery in the management of vertical compensatory head posture in patients with congenital nystagmus (CN) inherited in an X-linked manner in a Chinese family and determine the molecular pathogenesis of this disease. Methods: We studied 18 members belonging to four generations in a family with congenital nystagmus. Parks shift of neutral zone surgeries were performed on 7 patients with vertical compensatory head posture from the family. In addition, head posture, visual acuity, and stereopsis of the 7 patients were evaluated before and 2-years after the displacement surgeries. Gene alternations of the disease were researched by sequencing a candidate gene (FRMD7). From each generation of the family, one patient (including the proband) and one normal control were sampled for Sanger sequencing. Results: Over a median follow-up period of 2 years, the anomalous head posture, visual acuity, and stereopsis significantly improved postoperatively (P < 0.05). Sanger sequencing revealed that a variant c.586G > T (p.D196Y) in exon 7 of FRMD7 was co-segregated with the disease in this family. Conclusions: Parks shift of neutral zone surgeries relieved the vertical compensatory head posture and improved visual acuity and stereopsis in the primary position of CN patients. In this study, it was concluded that a missense mutation in exon 7 (c.586G > 7, p.D196Y) in FRMD7 was possibly responsible for the disease in this family.

Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach.

Pelizaeus-Merzbacher-like disease (PMLD, OMIM #608804) is an autosomal recessive hypomyelinating leukodystrophy caused by homozygous variants in the GJC2 gene. It usually presents in the first months of life with nystagmus, developmental delay, and diffuse hypomyelination on brain magnetic resonance imaging (MRI). We report a case of a 3-year-old boy that presented with nystagmus and global developmental delay. MRI showed diffuse hypomyelination, including the cerebellum. Pelizaeus-Merzbacher disease (PMD) was suspected; however, no pathological variants of the PLP1 gene were found. Exome sequencing found variants in the GJC2 gene, leading to a diagnosis of PMLD. The combination of global developmental delay, hypomyelination, and nystagmus in a child should raise suspicion of PMD and PMLD. Unlike PMD, however, hypomyelination of the brainstem and cerebellum are frequently seen and brainstem auditory evoked potentials are usually normal in PMLD. The latter has an overall better prognosis than the former as well. Epidemiological studies on leukodystrophies have found conflicting results on which disease is more common. However, PMLD is a rare leukodystrophy and both PMLD and PMD should be considered in any child with developmental delay, hypomyelination, and nystagmus.

Partial Treatment During BPPV Diagnostic Maneuvers.

This study examines a case of lateral canal benign paroxysmal positional vertigo (BPPV) where the sequence of diagnostic positional maneuvers may have influenced the release of some canaliths into the utricle. Partial treatment during BPPV diagnostic maneuvers may complicate side identification during supine roll test, especially in canalolithiasis cases.

Diagnosis of Benign Paroxysmal Positional Vertigo Using a Questionnaire in a Hospital Based Rural Setting in India.

To develop and validate a simple questionnaire for the diagnosis of Benign Paroxysmal Positional Vertigo (BPPV) and also to accurately predict the involved side in BPPV. Patients (N = 148) who presented with dizziness to the ENT department were asked to fill out a questionnaire which was formulated to diagnose BPPV and the affected side. Five questions were part of the questionnaire. The fifth question was set to ascertain the affected side in BPPV. All the patients underwent a detailed neuro-otological examination and the findings were noted. The findings of the examination were correlated with the questionnaire findings. The mean age of the patient group was 54.72 years of age. The sensitivity of the questionnaire in detecting BPPV was 94.5%, though in 12.79% (n = 11) the side was not predicted correctly. The specificity of the questionnaire was 91.22%. The positive predictive value of the questionnaire in detecting BPPV was assessed at 94.5%.The questionnaire can be effectively used in predicting BPPV amongst patients presenting with dizziness and thus helps in avoiding unnecessary imaging and referrals to higher centres in view of suspicion of central causes of dizziness.

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.

BACKGROUND: Oculocutaneous albinism (OCA) is a genetically heterogeneous condition that is associated with reduced or absent melanin pigment in the skin, hair, and eyes, resulting in reduced vision, high sensitivity to light, and rapid and uncontrolled eye movements. To date, seventeen genes have been associated with OCA including syndromic and non-syndromic forms of the condition. METHODS: Whole exome sequencing (WES) was performed to identify pathogenic variants in nine Pakistani families with OCA, with validation and segregation of candidate variants performed using Sanger sequencing. Furthermore, the pathogenicity of the identified variants was assessed using various in-silico tools and 3D protein structural analysis software. RESULTS: WES identified biallelic variants in three genes explaining the OCA in these families, including four variants in TYR, three in OCA2, and two in HPS1, including two novel variants c.667C > T: p.(Gln223*) in TYR, and c.2009 T > C: p.(Leu670Pro) in HPS1. CONCLUSIONS: Overall, this study adds further knowledge of the genetic basis of OCA in Pakistani communities and facilitates improved management and counselling services for families suffering from severe genetic diseases in Pakistan.

[Wernicke encephalopathy : a neuro-ophthalmological side effect of bariatric surgery]. / L'encéphalopathie de Gayet-Wernicke : une complication neuro-ophtalmologique de la chirurgie bariatrique.

Due to an increase in the worldwide prevalence of obesity and the efficiency of bariatric surgery, this procedure is more often performed. Besides its benefits, it has also disadvantages and may be the cause of nutritional deficiencies. Thiamin deficiency is particularly important to diagnose and to treat early as it can lead to major sequelae and even to death. Wernicke's encephalopathy is the most frequent presentation associating confusion, ataxia, ophtalmoplegia and nystagmus. The full triad is not usually observed, which may lead to sub-diagnosis of this affection. The diagnosis is clinical, biological and radiologic thanks to the brain MRI. Intravenous thiamin supplementation therapy must be administered as fast as possible in order to avoid long-term damages. In the ophthalmological field, the potential sequelae are ophthalmoplegia, nystagmus and optic neuropathy. Therapeutics for nystagmus are pharmacological, surgical and/or optical. We illustrate this condition with a case report of an 18-year-old man developing Wernicke's encephalopathy as early as six weeks after a sleeve gastrectomy.

Suite à une augmentation de la prévalence de l'obésité dans le monde et à l'efficacité de la chirurgie bariatrique, cette technique est pratiquée de plus en plus fréquemment. Malgré ses avantages, elle n'est pas sans risque et peut être responsable de déficits nutritionnels multiples. Le déficit en vitamine B1 ou thiamine est particulièrement important à connaître et, à rapidement diagnostiquer en raison des nombreuses séquelles invalidantes, voire le décès du patient, dont il peut être responsable. Le tableau classique est l'encéphalopathie de Gayet-Wernicke associant confusion, ataxie et troubles oculomoteurs. Néanmoins, il n'est pas toujours complet, ce qui participe au sous-diagnostic de cette pathologie. Le diagnostic est clinique, biologique et/ou radiologique grâce à l'IRM cérébrale. La supplémentation vitaminique intraveineuse doit être instaurée le plus rapidement possible afin d'éviter des séquelles à long terme. D'un point de vue ophtalmologique, les séquelles potentielles sont les ophtalmoplégies, les nystagmus et les neuropathies optiques. Les thérapies envisageables du nystagmus, outre la supplémentation en thiamine en aigu, sont pharmacologiques, chirurgicales et/ou optiques. Nous illustrons cette pathologie par un cas clinique d'encéphalopathie de Gayet-Wernicke dès la 6ème semaine post-opératoire d'une chirurgie bariatrique de type «sleeve¼ chez un patient de 18 ans.

Comparative Study of Clinical Features of Patients with Different Types of Benign Paroxysmal Positional Vertigo.

Objectives: Even though BPPV is one of the most common causes of vertigo, it is often underdiagnosed and omitted in the diagnosis of patients reporting vertigo. The aim of the study was to establish a diagnostic pattern useful in patients admitted due to vertigo, based on the most common clinical characteristics of patients suffered from posterior canal BPPV (PC-BPPV), horizontal canal BPPV with geotropic (HCG-BPPV) and apogeotropic nystagmus (HCA-BPPV). Methods: The analysis covered the results obtained in 105 patients with a positive result of the Dix-Hallpike maneuver or the supine roll test. The patients were divided into 3 groups based on the BPPV type: gr.1:PC-BPPV (60%); gr.2: HCG-BPPV (27%); gr.3: HCA-BPPV (13%). Patients before the diagnostic maneuvers filled the questionnaire concerning their symptoms and previous diseases. Results: Almost all patients had vertigo during turning over in bed and the character of the symptoms was paroxysmal. The answers to questions about the type of head movement evoked vertigo and how long vertigo lasted were differentiating. The percentages of correct diagnosis speculated by the combined answers were 69.6% in PC-BPPV, 61.8% in HCG-BPPV, and 80% in HCA-BPPV. Conclusions: Basing on those observations there is presented the diagnostic schedule which could be useful in dizziness examination. The above results indicate that a properly collected interview with the patient allows for a high percentage of accurate diagnosis.

Atypical Presentation of Posterior Reversible Encephalopathy Syndrome (PRES): A Case Report and Review of the Literature.

Posterior reversible encephalopathy syndrome (PRES) is a reversible clinico-radiological entity characterized by acute neurological symptoms and white matter vasogenic edema that commonly affects the posterior occipital and parietal lobes of the brain. Patients with this condition usually present with complaints of headache, encephalopathy, seizures, or visual disturbances. Nystagmus and periodic alternating gaze are rarely reported presentations of PRES patients. Similarly, involvement of the brainstem, cerebellum, basal ganglia, and other cerebral areas are atypical findings on brain imaging. Early diagnosis and immediate treatment can reverse both the clinical and radiological features of PRES.

Refractive surgery to correct visual impairments in 267 children with autism spectrum and related neuro-developmental disorders: improvements in vision and behavior.

Background: Children with autism spectrum disorder (ASD) may have impaired vision owing to high refractive errors and aversion to spectacles or contact lenses. Visual blurring is caused by near-sighted myopia, far-sighted hyperopia, or astigmatism in one or both eyes. Refractive surgery can restore sharp vision and eliminate the need for spectacles and contact lenses. Restoration of sharp vision may improve ASD behavior. We aimed to determine the refractive outcomes in this cohort using ophthalmic measures and behavioral and school performance alterations after refractive surgery by employing parent-proxy reports. Methods: This interventional, retrospective case series included data from 267 children with refractive errors and neurodevelopmental disorders (NDDs) diagnosed as ASD alone or NDD with ASD-like behaviors over a 15-year period. One of three refractive surgery methods was employed, with the choice of method uniquely tailored to the child's eye anatomy. Laser photorefractive keratectomy (PRK) was performed in 131 children, implantation of a phakic intraocular lens (pIOL) in 115 children, and removal of the crystalline lens and implantation of an intraocular lens (refractive lens exchange, RLE) in 21 children. All procedures were performed under brief general anesthesia, with the child returning home on the same day. Results: The median age at surgery was 10.9 years and the median follow-up period was 3.1 years. Pre-operative refractive errors ranged from a mean (standard deviation) +7.5 (0.09) D to -14.3 (4.8) D. Surgery corrected 87% of the children to normal focal length (± 1 D). Visual acuity improved an average of 0.6 logarithm of the minimum angle of resolution, the equivalent of 6 lines on a standard eye chart. Change in visual acuity was significant (all P < 0.01) between baseline and the most recent follow-up examination in each of subgroups. Change in spherical equivalent refractive error at 3, 12, 24, 36, 60, and > 60 months post-operatively were significant (all P < 0.01) between baseline and each follow-up visit in each of subgroups. Social interactions and ASD behaviors improved in 72% (192) of the treated children (P < 0.01). The incidence of sight-threatening complications was low. Conclusions: Refractive surgery improves both visual function and behavior in most children with ASD and major myopia, hyperopia, or astigmatism. The PRK, pIOL, and RLE procedures appear to be effective and reasonably safe methods for improving refractive error, visual acuity, and behavior in many ametropic children with ASD and ASD-like NDDs.

Horizontal Pendular Nystagmus and Ataxia Secondary to Severe Hypomagnesemia.

Background: Severe hypomagnesemia is an increasingly recognized cause of acute and reversible cerebellar ataxia, often accompanied by cerebellar oculomotor signs such as jerky horizontal or downbeat nystagmus and very rarely ocular flutter. Phenomenology Shown: This video illustrates horizontal pendular nystagmus in a patient with acute onset cerebellar ataxia associated with severe hypomagnesemia. Educational value: Acquired pendular nystagmus can be distinguished from macrosaccadic oscillations and ocular flutter in that the former is composed of two slow phases of equal velocity and the latter of two fast phases of saccadic type with or without intersaccadic interval, respectively. It is most commonly associated with demyelinating, toxic, metabolic, and genetic disorders, but has not been reported in association with severe hypomagnesemia.