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Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ectodermal dysplasia. Autosomal dominant gain-of-function mutation causes Stormorken's syndrome, which includes tubular aggregate myopathy along with bleeding diathesis.

Introduction/Aims: Despite being a prominent feature of myasthenia gravis (MG), extraocular muscle (EOM) has received little attention in clinical research. The aim of this study was to examine EOM volume in patients with MG and controls using time‐of‐flight magnetic resonance angiography (TOF‐MRA). Methods: EOM volumes (overall and individual rectus muscles) were calculated using TOF‐MRA images and compared between MG patients (including subgroups) and controls. The correlation between EOM volume and disease duration was examined. Predictive equations for the selected parameters were developed using multiple linear regression analysis. Results: EOM volume was lower in MG patients than controls, especially in MG patients with ophthalmoparesis (MG‐O). MG‐O exhibited a moderate negative correlation between EOM volume and disease duration. Multiple linear regression showed that disease duration and EOM status (ophthalmoparesis or not) account for 48.4% of EOM volume. Discussion: Patients with MG show atrophy of the EOMs, especially those with ophthalmoparesis and long disease duration. [ABSTRACT FROM AUTHOR]

Cavernous angiomas (CA) affecting cranial nerves (CN) are exceptionally rare. Most reported cases involve the optic nerves, with even fewer occurrences in other CN. In this report, the authors describe a case of an extra-axial CA affecting the oculomotor nerve, which was managed conservatively. The authors also review the outcomes of other therapeutic options based on cases documented in the existing literature. Case report: 36-year-old woman presented to the Emergency Department with a headache in the left temporal region, predominantly at night, along with mild left palpebral ptosis and binocular diplopia of 2 months duration. Brain MRI revealed a lesion exhibiting typical characteristics of CA in the left lateral region of the interpeduncular cistern, in close contact with the left oculomotor nerve. After considering treatment options and in consultation with the patient, a conservative management plan with periodic MRI follow-up was chosen. After 2 years of follow-up, the patient showed favorable progress. Although exceptional, CA should be considered in the differential diagnosis of other more common extra-axial lesions involving CN. The therapeutic management of a CA of the oculomotor nerve remains controversial due to the limited number of cases described in the literature. The authors suggest that for individuals with asymptomatic or mildly symptomatic CA affecting the oculomotor nerve, a conservative treatment approach is the most suitable choice to preserve neurological function. In cases characterized by progressive symptoms, a history of recurrent bleeding, or evidence of lesion enlargement on sequential imaging assessments, total microsurgical resection should be considered. [ABSTRACT FROM AUTHOR]

An acute neurological disease known as Wernicke Encephalopathy (WE) is characterised by the clinical triad of symptoms: ophthalmoparesis with nystagmus, ataxia, and disorientation. Thiamine deficiency is the underlying cause of this potentially fatal condition, which mainly affects the central and peripheral nervous systems. Hereby, the authors present a case of a 47-year-old male who presented with multiple episodes of loose stools and altered consciousness to the emergency ward. He had hyperchloremic metabolic acidosis suspected to be due to acute gastroenteritis, which may have caused his altered consciousness. Despite correction of his metabolic acidosis, his sensorium did not improve. Later, he was diagnosed with WE using Magnetic Resonance Imaging (MRI) brain findings, which showed symmetrical subtle hyperintensities in the medial part of the thalami and periaqueductal grey matter, suggestive of WE; his consciousness improved after thiamine supplementation. There should be a high suspicion of WE for timely diagnosis and treatment. Prompt treatment would be rewarding as WE is reversible, if treated in time.

Objective: An anterior communicating artery (ACoA) aneurysm causing unilateral pupil sparing oculomotor nerve paresis is highly unusual. This is, to the best of our knowledge, the second case report of its sort. Compression, ischemia, or haemorrhage affecting the anterior visual pathway are common neuro-ophthalmic manifestations of ACoA aneurysm but when there is partial paresis it only affects the superior division of the third cranial nerve's fibres which is an extremely rare occurrence. Case presentation: A 45-year-old man came in as an outpatient with complaints of severe headache and right eyelid drooping for the previous 6 days. He had GCS 15 (E4,V5,M6), and right eyelid partial ptosis with normal reactive pupils. The other cranial nerves and neurological examination came out normal. A non-contrast enhanced computed tomography (CT) scan of the brain revealed a hyperdense area around the ACoA region and SAH. During CT angiography, an ACoA aneurysm was found. The patient was clipped on the 24th post-bleeding day. On the three-week follow-up appointment, the ptosis had improved somewhat. Conclusions: Although unilateral pupil sparing oculomotor nerve paresis has little localising utility, it does help to comprehend acute microvascular spasm, which may have therapeutic implications.

An acute neurological disease known as Wernicke Encephalopathy (WE) is characterised by the clinical triad of symptoms: ophthalmoparesis with nystagmus, ataxia, and disorientation. Thiamine deficiency is the underlying cause of this potentially fatal condition, which mainly affects the central and peripheral nervous systems. Hereby, the authors present a case of a 47-year-old male who presented with multiple episodes of loose stools and altered consciousness to the emergency ward. He had hyperchloremic metabolic acidosis suspected to be due to acute gastroenteritis, which may have caused his altered consciousness. Despite correction of his metabolic acidosis, his sensorium did not improve. Later, he was diagnosed with WE using Magnetic Resonance Imaging (MRI) brain findings, which showed symmetrical subtle hyperintensities in the medial part of the thalami and periaqueductal grey matter, suggestive of WE; his consciousness improved after thiamine supplementation. There should be a high suspicion of WE for timely diagnosis and treatment. Prompt treatment would be rewarding as WE is reversible, if treated in time. [ABSTRACT FROM AUTHOR]

Neuromuscular manifestations of SARS-CoV-2 vaccinations have been reported increasingly over the last years. Specifically, cranial multineuropathies are extremely rare entities and few cases have been reported related to COVID-19, whereas, todate, no case has been observed after vaccine against SARS-CoV-2. Herein we describe a patient who presented ptosis, ophthalmoparesis and a subclinical facial nerve impairment after two weeks from the second dose of AZD1222 (ChAdOx1-S [recombinant]) vaccine.

Introduction:Miller Fisher syndrome (MFS) is considered a rare variant of Guillain- Barré syndrome (GBS), a group of acute-onset immune-mediated neuropathies characterized by the classic triad of ataxia, areflexia, and ophthalmoparesis. The present review aimed to provide a detailed and updated profile of all aspects of the syndrome through a collection of published articles on the subject, ranging from the initial description to recent developments related to COVID-19. Methods: We searched PubMed, Scopus, EMBASE, andWeb of Science databases and gray literature, including references from the identified studies, review studies, and conference abstracts on this topic. We used all MeSH terms pertaining to "Miller Fisher syndrome," "Miller Fisher," "Fisher syndrome," and "anti-GQ1b antibody." Results: An extensive bibliography was researched and summarized in the review from an initial profile of MFS since its description to the recent accounts of diagnosis in COVID-19 patients. MFS is an immune-mediated disease with onset most frequently following infection. Anti-ganglioside GQ1b antibodies, detected in ~85% of patients, play a role in the pathogenesis of the syndrome. There are usually no abnormalities in MFS through routine neuroimaging. In rare cases, neuroimaging shows nerve root enhancement and signs of the involvement of the central nervous system. The most consistent electrophysiological findings in MFS are reduced sensory nerve action potentials and absent H reflexes. Although MFS is generally self-limited and has excellent prognosis, rare recurrent forms have been documented. Conclusion: This article gives an updated narrative review of MFS with special emphasis on clinical characteristics, neurophysiology, treatment, and prognosis of MFS patients. [ABSTRACT FROM AUTHOR]

Background: Ataxia neuropathy spectrum, including sensory ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO), is a part of polymerase gamma (POLG) gene-related disorder, a heterogeneous group of mitochondrial disorders. Childhood onset of the SANDO phenotype is rare, and we describe such a case here, probably the first from India. Clinical Description: A 17-year-old girl presented with progressive gait abnormality since 5 years of age, later associated with ptosis and seizures. On examination, she had atrophy of distal small muscles and absent tendon reflexes in addition to ataxia and ptosis. Differentials for a neurodegenerative disorder with cognitive sparing and ophthalmoplegia were suspected. Management: Investigations revealed a mild elevation in serum lactate, transaminases, and creatine phosphokinase, with abnormal neurophysiology showing primary muscle disease with symmetrical sensorimotor polyneuropathy, and a normal neuroimaging. Gene sequencing analysis for the mitochondrial disorder was done, which revealed a pathogenic variation in the POLG gene. The child was kept on supportive management, including antiepileptics. Conclusion: This case shows that the SANDO phenotype of POLG-related disorders, classically seen in adults, may rarely be seen in children. Our case highlights the fact that although many of the progressive neurodegenerative disorders have a nonspecific clinical presentation, biomarkers, and neurophysiologic abnormalities, a few important phenotypic clues and awareness of POLG-related disorders may enable a pediatrician to order focused genetic testing to delineate the etiology.

Abstract Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra‐ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation. A comprehensive literature review was performed to find clinical and imaging clues for the diagnosis and follow‐up of ptosis and ophthalmoparesis. We used five patterns as a framework for differential diagnostic reasoning and for pattern recognition in symptomatology, EOM involvement and imaging results of individual patients. The five patterns were characterized by the presence of combination of ptosis, ophthalmoparesis, diplopia, pain, proptosis, nystagmus, extra‐orbital symptoms, symmetry or fluctuations in symptoms. Each pattern was linked to anatomical locations and either hereditary or acquired diseases. Hereditary muscle diseases often lead to ophthalmoparesis without diplopia as a predominant feature, while in acquired eye muscle diseases ophthalmoparesis is often asymmetrical and can be accompanied by proptosis and pain. Fluctuation is a hallmark of an acquired synaptic disease like myasthenia gravis. Nystagmus is indicative of a central nervous system lesion. Second, specific EOM involvement patterns can also provide valuable diagnostic clues. In hereditary muscle diseases like chronic progressive external ophthalmoplegia (CPEO) and oculo‐pharyngeal muscular dystrophy (OPMD) the superior rectus is often involved. In neuropathic disease, the pattern of involvement of the EOM can be linked to specific cranial nerves. In myasthenia gravis this pattern is variable within patients over time. Lastly, orbital imaging can aid in the diagnosis. Fat replacement of the EOM is commonly observed in hereditary myopathic diseases, such as CPEO. In contrast, inflammation and volume increases are often observed in acquired muscle diseases such as Graves' orbitopathy. In diseases with ophthalmoparesis and ptosis specific patterns of clinical symptoms, the EOM involvement pattern and orbital imaging provide valuable information for diagnosis and could prove valuable in the follow‐up of disease progression and the understanding of disease pathophysiology.

IntroductionMiller Fisher syndrome (MFS) is considered a rare variant of Guillain-Barré syndrome (GBS), a group of acute-onset immune-mediated neuropathies characterized by the classic triad of ataxia, areflexia, and ophthalmoparesis. The present review aimed to provide a detailed and updated profile of all aspects of the syndrome through a collection of published articles on the subject, ranging from the initial description to recent developments related to COVID-19.MethodsWe searched PubMed, Scopus, EMBASE, and Web of Science databases and gray literature, including references from the identified studies, review studies, and conference abstracts on this topic. We used all MeSH terms pertaining to “Miller Fisher syndrome,” “Miller Fisher,” “Fisher syndrome,” and “anti-GQ1b antibody.”ResultsAn extensive bibliography was researched and summarized in the review from an initial profile of MFS since its description to the recent accounts of diagnosis in COVID-19 patients. MFS is an immune-mediated disease with onset most frequently following infection. Anti-ganglioside GQ1b antibodies, detected in ~85% of patients, play a role in the pathogenesis of the syndrome. There are usually no abnormalities in MFS through routine neuroimaging. In rare cases, neuroimaging shows nerve root enhancement and signs of the involvement of the central nervous system. The most consistent electrophysiological findings in MFS are reduced sensory nerve action potentials and absent H reflexes. Although MFS is generally self-limited and has excellent prognosis, rare recurrent forms have been documented.ConclusionThis article gives an updated narrative review of MFS with special emphasis on clinical characteristics, neurophysiology, treatment, and prognosis of MFS patients.

Predominantly visual loss, is very rare in Wernicke's encephalopathy. A 22 year old lady, in her 28th week of gestation, presented with a confused mental state, bilateral papilloedema with retinal hemorrhages, ophthalmoparesis, and cerebellar signs. Her MRI brain was suggestive of Wernicke's encephalopathy and she recovered with intravenous thiamine [ABSTRACT FROM AUTHOR]

Abstract Predominantly visual loss, is very rare in Wernicke's encephalopathy. A 22 year old lady, in her 28th week of gestation, presented with a confused mental state, bilateral papilloedema with retinal hemorrhages, ophthalmoparesis, and cerebellar signs. Her MRI brain was suggestive of Wernicke's encephalopathy and she recovered with intravenous thiamine

Background Myasthenia gravis (MG) is an autoimmune neuromuscular disorder that most frequently affects the extraocular muscles (EOMs), which causes symptoms such as ptosis and restricted eye movement. The EOMs in MG patients are representative of autoimmune inflammatory changes in muscle tissue. Currently, there is no reliable, and sensitive imaging technique for monitoring EOM changes to assist in the evaluation of underlying pathological changes. Methods This study included MG patients treated between March and November 2022 at the First Affiliated Hospital of Sun Yat-sen University. Healthy controls (matched by age and sex) were included. Participants underwent 3.0 T MRI with magnetization transfer imaging (MTI) and T2-mapping to measure the magnetization transfer ratio (MTR) and T2-mapping values in the superior, inferior, medial, and lateral rectus muscles. Comparisons were made between MG patients and healthy controls, and between MG subgroups with and without ophthalmoparesis. Results The MTR and T2-mapping values successfully reflected EOM fibrosis and inflammatory edema in MG patients. MG patients showed significantly higher MTR and T2-mapping values in the EOMs compared with healthy controls. MG patients with ophthalmoparesis exhibited a lower MTR but higher T2-mapping value compared with those without ophthalmoparesis. Combined MTR and T2-mapping values effectively distinguished between MG patients and healthy controls, and between different severities of EOM involvement, with a superior diagnostic accuracy compared with each parameter alone. Conclusion The combination of MTI and T2-mapping MRI techniques can provide key insight into the pathological changes in EOMs in MG patients. This approach enhances early diagnosis and treatment planning, and therefore may improve clinical outcomes., Competing Interests: Competing Interests: The authors have declared that no competing interest exists., (© The author(s).)

Objective: This study described the ophthalmic symptoms and signs in patients with nasopharyngeal carcinoma (NPCA)., Methods: This was a retrospective, cross-sectional, descriptive study involving patients with histologically-confirmed NPCA seen in two subspecialty eye clinics in a single referral hospital from January 2014 to December 2018. Chart review obtained data on symptoms and ophthalmic findings of patients with NPCA on the first visit. Descriptive statistics was used to analyze the data., Results: There were 36 patients in the study. There were 27 males (75%) and mean age was 47 years (Range: 13 - 83). Delay to consult was marked, with 28 patients (78%) presenting later than three months; 19 (53%) had invasion to distant sites on presentation. Almost all of the patients (35/36 or 97%) had either diplopia or blurring of vision, with nasal symptoms as the most common extra-ophthalmic accompanying symptom. Multiple cranial nerve palsies, particularly optic nerve plus at least one ocular motor nerve, was a prominent feature. The combination of nasal symptoms with ophthalmoparesis was noted in 24 patients (67%) and was identified as a red flag for NPCA., Conclusion: Blurred vision and diplopia were the most common ocular complaints of patients with NPCA who were evaluated at the ophthalmology department of a tertiary hospital. Blurred vision is frequently from optic nerve involvement while diplopia is due to ophthalmoparesis secondary to multiple ocular motor cranial nerves involvement. Male patients in their 40s who present with combination of optic neuropathy or ocular motor palsies should be probed for presence of otologic or nasal symptoms as well as neck masses as these are the common presentation of NPCA in the ophthalmology clinics., Competing Interests: Both authors declared no conflicts of interest., (© 2024 Acta Medica Philippina.)

Introduction  ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation-contraction of skeletal muscles. Loss-of-function mutations of ORAI-1 cause severe combined immunodeficiency, nonprogressive muscle hypotonia, and anhidrotic ectodermal dysplasia. Autosomal dominant gain-of-function mutation causes Stormorken's syndrome, which includes tubular aggregate myopathy along with bleeding diathesis. Methods  This is a description of a genetically confirmed case of ORAI-1-associated myopathy with clinical, histopathological, and imaging characteristics and a detailed literature review. Results  We report an 18-year-old woman who presented with 2-and-a-half year history of slowly progressive proximal lower limb weakness and ophthalmoparesis. Her serum creatine kinase levels were normal. Magnetic resonance imaging of the muscle showed predominant fatty infiltration of the glutei and quadriceps femoris. Histopathological analysis of muscle biopsy was suggestive of congenital fiber-type disproportion (CFTD). Clinical exome sequencing showed novel homozygous nonsense pathogenic variant NC_000012.12 (NM_032790.3): c.205G > T (p.Glu69Ter) in ORAI-1 gene. Conclusion  This report expands the phenotypic spectrum of ORAI-1-related myopathy to include congenital myopathy-CFTD with ophthalmoparesis, a novel manifestation., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a rare mitochondrial disorder associated with mutations in the POLG gene, which encodes the DNA polymerase gamma catalytic subunit. A few POLG-related SANDO cases have been reported, but the genotype–phenotype correlation remains unclear. Here, we report a patient with SANDO carrying two novel missense variants (c.2543G>C, p.G848A and c.452 T>C, p.L151P) in POLG. We also reviewed previously reported cases to systematically evaluate the clinical and genetic features of POLG-related SANDO. A total of 35 distinct variants in the coding region of POLG were identified in 63 patients with SANDO. The most frequent variant was the p.A467T variant, followed by the p.W748S variant. The clinical spectrum of SANDO is heterogeneous. No clear correlation has been observed between the mutation types and clinical phenotypes. Our findings expand the mutational spectrum of POLG and contribute to clinical management and genetic counseling for POLG-related SANDO. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the aetiology of acute‐onset binocular diplopia (AOBD) in neurological units and identify the key diagnostic procedures in this setting. Materials and methods: Clinico‐demographic data from patients hospitalized for AOBD from 2008 to 2019 were retrospectively reviewed. AOBD due to an underlying neurological disorder known to cause diplopia was addressed as secondary diplopia. Ophthalmoparesis plus was defined when subtle neurological signs/symptoms other than ophthalmoparesis were detected during neurological examination. Results: A total of 171 patients (mean age 57.6 years) were included in the study. A total of 89 subjects (52%) had an oculomotor disturbance consistent with sixth nerve palsy, and 42 (24.6%) showed multiple oculomotor nerve involvement. The most common cause of AOBD was presumed to be microvascular in 56 patients (32.7%), while a secondary aetiology was identified in 102 (59.6%). Ophthalmoparesis plus and multiple oculomotor nerve involvement significantly predicted a secondary aetiology in multivariable logistic regression analysis. Brain CT was never diagnostic in isolated ophthalmoparesis. A combination of neuroimaging examinations established AOBD diagnosis in 54.9% of subjects, whereas rachicentesis and neurophysiological examinations were found to be performant in the remaining cases. Conclusions: AOBD may herald insidious neurological disease, and an extensive diagnostic workup is often needed to establish a diagnosis. Neurological examination was pivotal in identifying patients at higher risk of secondary aetiology. Even in cases of apparently benign presentation, a serious underlying disease cannot be excluded. Brain MRI was found to perform well in all clinical scenarios, and it should be always considered when managing AOBD. [ABSTRACT FROM AUTHOR]

Mutations in the TWNK gene (10q24.31) lead to a variety of clinical characteristics and age-related phenotypes. Most often, diseases associated with mutations in this gene are the main manifestation of neurological symptoms such as ataxia, muscular hypotonia, ophthalmoplegia and extrapyramidal syndrome of varying severity and age - from generalized hypotonia with ophthalmoparesis and chorea, to more discreetly manifested ataxia and/or sensory polyneuropathy with late onset and slow progression. We present a case of a 1-year-old child with motor developmental delay - generalized muscular hypotonia, quadriparetic and extrapyramidal syndrome, ophthalmoparesis, weakened to missing reflexes, increased transaminases and missing tendon reflexes. After conducting a detailed genetic study - whole exome sequencing, a double heterozygous carrier of mutations in the TWNK gene was found. [ABSTRACT FROM AUTHOR]

Abstract Background Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. Methods and results We report on the first Tunisian case of an 11‐year‐old girl with cerebellar ataxia, chorea and ophthalmoparesis. Brain MRI was normal. Whole‐exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4). Conclusion By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease.

Myasthenia gravis (MG) with symptoms limited to eye muscles [ocular MG (OMG)] is a rare disease. OMG incidence varies according to ethnicity and age of onset. In recent years, both an increase in incidence rate, particularly in the elderly, and a lower risk for secondary generalization may have contributed to the growing disease prevalence in Western countries. OMG should be considered in patients with painless ptosis and extrinsic ophthalmoparesis. Though asymmetric muscle involvement and symptom fluctuations are typical, in some cases, OMG can mimic isolated cranial nerve paresis, internuclear ophthalmoplegia, and conjugate gaze palsy. Diagnostic confirmation can be challenging in patients negative for anti-acetylcholine receptor and anti-muscle-specific tyrosine kinase antibodies on standard radioimmunoassay. Early treatment is aimed at relieving symptoms and at preventing disease progression to generalized MG. Despite the absence of high-level evidence, there is general agreement on the efficacy of steroids at low to moderate dosage; immunosuppressants are considered when steroid high maintenance doses are required. The role of thymectomy in non-thymoma patients is controversial. Prolonged exposure to immunosuppressive therapy has a negative impact on the health-related quality of life in a proportion of these patients. OMG is currently excluded from most of the treatments recently developed in generalized MG.

Syphilis is a spirochete disease that occurs due to Treponema pallidum infection. It can be sexually transmitted and can be transmitted from mother to baby vertically. Neurological involvement is more common in the late period. The use of common antibiotics may alter the natural course of the disease. Because of this, syphilis may present with different neurological findings. A 49-year-old male patient was admitted to our clinic with complaints of fluctuating double vision and droopy left eyelid for two months. In the neurological examination, pupils were mid-dilated, direct and indirect pupillary light reflexes were bilaterally absent, movements of the left eye in all directions and rightward movement of the right eye were restricted. Also, bilateral ptosis was detected. Brain magnetic resonance imaging and electrophysiological studies including repetitive stimulation were normal. Syphilis was diagnosed with blood and cerebrospinal fluid (CSF) tests. He was treated with long-term high-dose intravenous penicillin. Ocular findings are an important indicator of neurosyphilis. Ocular involvement due to primary disease process is rare. If meningitis-related CSF absorption defect develops, eye movement disorders and pupil abnormalities may occur. The diagnosis of neurosyphilis may be delayed due to different clinical manifestations. Neurosyphilis should be considered in case of ocular findings.

Objective: To describe the neuro-ophthalmological manifestations and the functional state of the retina in patients with Steinert's disease. Methods: An observational, descriptive study was carried out on a series of 29 patients, from January 18, 2016 to January 15, 2018, in the Neurophthalmology service at Prof. Rafael Estrada González Neurology and Neurosurgery Institute. Demographic, clinical variables, as well as functional electrophysiological evaluation variables of the retina were taken into account. Univariate and multivariate statistical analysis was performed. Results: The mean age of the patients was 37.69 years (± 11.48); the most frequent age group was 40 to 49 years (44.8%) and the composition was similar in terms of sex. Mean visual acuity was 87.2 VAR (± 2.842), and 74.1% considered good, as was color vision (72.4%), contrast sensitivity at 1 meter (63.8 %) and 3 meters (62.1%). Ocular hypotension (82.8%), cataracts (58.64%), palpebral ptosis (51.7%), ophthalmoparesis (34.5%), epiretinal membranes (12.1%) and maculopathies (8.64%) were detected. The mesopic electroretinogram was altered in 75.9% of the patients and the electroculogram in 39.7%. Conclusions: Structural and functional ophthalmological alterations were found in patients with Steinert's disease. The evident affectation, detected in the visual electrophysiology tests, suggests an important dysfunction of the photoreceptor layer of the retina and its pigment epithelium (greater in the former), unlike that described historically in this disease. [ABSTRACT FROM AUTHOR]

Background: Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. Methods and results: We report on the first Tunisian case of an 11‐year‐old girl with cerebellar ataxia, chorea and ophthalmoparesis. Brain MRI was normal. Whole‐exome sequencing revealed a homozygous mutation c.823_824del(p.Ser275Phefs*17) in SQSTM1 gene (GenBank: NM_003900.4). Conclusion: By pooling our data to the data of literature, we delineated the phenotypic spectrum and stressed on genetic heterogeneity of this rare neurodegenerative disease. [ABSTRACT FROM AUTHOR]

Myasthenia gravis (MG) with symptoms limited to eye muscles [ocular MG (OMG)] is a rare disease. OMG incidence varies according to ethnicity and age of onset. In recent years, both an increase in incidence rate, particularly in the elderly, and a lower risk for secondary generalization may have contributed to the growing disease prevalence in Western countries. OMG should be considered in patients with painless ptosis and extrinsic ophthalmoparesis. Though asymmetric muscle involvement and symptom fluctuations are typical, in some cases, OMG can mimic isolated cranial nerve paresis, internuclear ophthalmoplegia, and conjugate gaze palsy. Diagnostic confirmation can be challenging in patients negative for anti-acetylcholine receptor and anti-muscle-specific tyrosine kinase antibodies on standard radioimmunoassay. Early treatment is aimed at relieving symptoms and at preventing disease progression to generalized MG. Despite the absence of high-level evidence, there is general agreement on the efficacy of steroids at low to moderate dosage; immunosuppressants are considered when steroid high maintenance doses are required. The role of thymectomy in non-thymoma patients is controversial. Prolonged exposure to immunosuppressive therapy has a negative impact on the health-related quality of life in a proportion of these patients. OMG is currently excluded from most of the treatments recently developed in generalized MG. [ABSTRACT FROM AUTHOR]

Background: Aneurysms of the cavernous segment of the internal carotid artery (ICA) do not usually cause subarachnoid hemorrhage (SAH). We report a patient who presented with this condition due to a ruptured aneurysm located on the posterior genu of the cavernous segment, raising the question of what factors could have led to such evolution. Case Description: A 55-year-old male patient presented with sudden, intense thunderstorm headache, associated with complete palsy of the left oculomotor nerve and neck stiffness. Cranial computed tomography (CT) showed no SAH, but showed an expansive process in the sella turcica, consistent with a pituitary macroadenoma. After that, SAH was confirmed by lumbar puncture (Fisher I). Cranial angio-CT revealed an intradural saccular aneurysm in the cavernous segment of the left ICA. The patient underwent cranial microsurgery for cerebral aneurysm clipping. Unlike the normal anatomic pattern, the cavernous segment of the carotid artery in this patient was located in the intradural compartment. Conclusion: Intradural rupture of proximal cavernous segment carotid aneurysms is rare. We review the literate for such cases and discuss the possible causes. [ABSTRACT FROM AUTHOR]

SARS-CoV-2 associated Miller-Fisher syndrome or polyneuritis cranialis If MFS developed before COVID-19 in two patients, it is conceivable that MFS in these two patients was not causally related to COVID-19 but may have another etiology. Of these 11 patients, 2 patients had MFS plus PNC and one patient MFS plus acute, inflammatory demyelinating polyneuropathy (AIDP) (Finsterer et al. [2]). [Extracted from the article]

Objective: The objective of this study was to describe the quantitative features of intraoperative electromyographic recordings obtained from cranial nerve III, IV, and VI neuromonitoring using 25-mm intraorbital electrodes, in the larger context of demonstrating the practicality of this technique during neurosurgical cases., Methods: A 25-mm-long shaft-insulated intraorbital needle electrode is routinely used at the authors' institution for extraocular muscle (EOM) electromyographic monitoring of the inferior rectus, superior oblique, and/or lateral rectus muscles when their function is at risk. Cases monitored between January 1, 2021, and December 31, 2022, were reviewed for patient demographics, tumor location and pathology, EOMs monitored, pre- and postoperative examination, and complications from electrode placement. Compound muscle action potentials on triggered electromyography, as well as neurotonic discharges on free-run electromyography, were described quantitatively., Results: There were 141 cases in 139 patients reviewed during the 24-month time span, with 278 EOMs monitored (inferior rectus/superior oblique/lateral rectus muscles 68/68/142). Triggered electromyography yielded biphasic or triphasic compound muscle action potentials from EOMs with a mean onset latency of 1.51 msec (range 0.94-3.22 msec), mean maximal peak-to-trough amplitude of 1073.93 μV (range 76.75-7796.29 μV), and high specificity for the channel in nearly all cases. Neurotonic discharges were recorded in 30 of the 278 EOMs (with all 3 muscles represented) and associated with a greater incidence of new or worsened ophthalmoparesis (OR 4.62, 95% CI 1.3-16.4). There were 2 cases of small periorbital ecchymosis attributed to needle placement; additionally, 1 case of needle-related intraorbital hematoma occurred after the review period., Conclusions: The 25-mm shaft-insulated intraorbital electrode facilitates robust and consistent electromyographic recordings of EOMs that are advantageous over existing techniques. Combined with the relative ease of needle placement and low rate of complications, the technique is practical for neuromonitoring during craniotomies.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel coronavirus discovered in late 2019 in Wuhan, Hubei Province, China. The virus has now developed into a full-scale global pandemic affecting hundreds of millions of people to date. A majority of cases present with nonspecific acute upper respiratory symptoms. A wide range of systemic symptoms has been reported, with some patients presenting with nonspecific extrapulmonary symptoms. Recently, there has been an increased association of COVID-19-positive patients presenting with ocular symptoms. As an increasing number of patients present with ophthalmic manifestations, recognizing these visual symptoms is of utmost importance. Some patients may present with ocular symptoms as the first indication of COVID-19 infection; quickly isolating and starting treatment can aid in stopping the spread of this novel coronavirus. This review will describe the current epidemiology and pathophysiology of SARS-CoV-2, emphasizing the ophthalmic manifestations and their clinical course progression. Further, we will be reporting on the growing number of rare ocular manifestations that have occurred in some COVID-19-positive patients, along with the route of transmission, specific manifestations, and the treatment methods for both these pulmonary and extrapulmonary symptoms, specifically the ocular manifestations., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Patel et al.)

Abstract Anti-GQ1b antibody syndrome encompasses Miller Fisher syndrome and its related disorders. We retrospectively identified 11 pediatric patients (5.4–18 years old) with anti-GQ1b antibody syndrome. Diagnoses of patients included acute ophthalmoparesis (n = 6), classical Miller Fisher syndrome (n = 2), Miller Fisher syndrome/Guillain-Barré syndrome (n = 1), acute ataxic neuropathy (n = 1), and pharyngeal-cervical-brachial weakness (n = 1). Nine patients (81.8%) fully recovered. Maturational change in GQ1b antigen expression and the accessibility of anti-GQ1b antibodies might be the cause of the difference of clinical manifestations in children with anti-GQ1b antibody syndrome. Graphical abstract Unlabelled Image Highlights • The most common diagnosis of Korean pediatric patients with anti-GQ1b antibody syndrome was acute ophthalmoparesis. • Maturational change in GQ1b antigen expression and the accessibility of anti-GQ1b antibodies might be the cause of the difference of clinical manifestations in children with anti-GQ1b antibody syndrome. [ABSTRACT FROM AUTHOR]

• SANDO is one common chronic progressive external ophthalmoplegia-plus syndrome. • The POLG gene participates in the replication and repair of mitochondrial DNA. • POLG most frequent mutations include A467T, T748S, R627W, H932Y and G1051R. • In cases of ataxia-neuropathy, the MRI findings facilitate the initial diagnosis. • We describe a patient with novel POLG gene c.3287G> t heterozygous mutation. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia associated with mutations in POLG1. We report a 38-year-old woman with a history of progressive gait instability and bilateral ptosis. Neurological examination found ataxia, ophthalmoplegia, and dysarthria. MRI showed bilateral thalamic and cerebellar lesions. A POLG related disorder was suspected and after DNA sequencing a SANDO with a novel mutation in POLG was confirmed. [ABSTRACT FROM AUTHOR]

Hypocalcemia is known to induce stridor but was rarely reported to cause strabismus. We report the case of a 4-year-old girl who presented with paroxysmal stridor and strabismus with diplopia, persisting for several weeks. Severe hypocalcemia (1.25 mmol/L) was finally diagnosed and was related to hypoparathyroidism, which was the first manifestation of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) in this patient. Strabismus and stridor both resolved after normalization of calcemia. This case report is a rare observation of paroxysmal strabismus caused by hypocalcemia and it highlights the importance of calcium monitoring in any situation of atypical neurological symptoms. [ABSTRACT FROM AUTHOR]

Syphilis is a spirochete disease that occurs due to Treponema pallidum infection. It can be sexually transmitted and can be transmitted from mother to baby vertically. Neurological involvement is more common in the late period. The use of common antibiotics may alter the natural course of the disease. Because of this, syphilis may present with different neurological findings. A 49-year-old male patient was admitted to our clinic with complaints of fluctuating double vision and droopy left eyelid for two months. In the neurological examination, pupils were mid-dilated, direct and indirect pupillary light reflexes were bilaterally absent, movements of the left eye in all directions and rightward movement of the right eye were restricted. Also, bilateral ptosis was detected. Brain magnetic resonance imaging and electrophysiological studies including repetitive stimulation were normal. Syphilis was diagnosed with blood and cerebrospinal fluid (CSF) tests. He was treated with long-term high-dose intravenous penicillin. Ocular findings are an important indicator of neurosyphilis. Ocular involvement due to primary disease process is rare. If meningitis-related CSF absorption defect develops, eye movement disorders and pupil abnormalities may occur. The diagnosis of neurosyphilis may be delayed due to different clinical manifestations. Neurosyphilis should be considered in case of ocular findings. [ABSTRACT FROM AUTHOR]

Patients with Miller Fisher syndrome (MFS) may have a relatively mild clinical course or progress to Guillain-Barré syndrome (GBS) with limb weakness (MFS-GBS overlap syndrome). Other variants in this spectrum are GBS with ophthalmoparesis and Bickerstaff's Brainstem encephalitis (BBE). To compare the clinical course of MFS and overlap syndromes and to identify predictors of disease progression. In a prospective study of 170 patients with GBS and variant forms, 37 (22%) had a MFS, MFS-GBS overlap syndrome, ophthalmoplegic GBS or BBE. The clinical, serological, and electrophysiological features were compared. Twenty-three patients presented with MFS, of which 10 (43%) developed limb weakness (MFS-GBS overlap syndrome). All these transitions occurred in the first week after onset of symptoms. There were no differences in the clinical, electrophysiological and serological features at entry between MFS and MFS-GBS. Twelve patients had ophthalmoplegic GBS and the disease severity at nadir and outcome was worse than in the patients with a MFS-GBS overlap syndrome. No early predictors for progression from MFS to MFS-GBS overlap syndrome were found. All transitions occurred in the first week. This finding implicates that all patients with MFS need careful monitoring for at least 1 week. [ABSTRACT FROM AUTHOR]

A 9-month-old French Bulldog was presented with a chronic history of lateral strabismus and intermittent third eyelid protrusion in the left eye. The neuro-ophthalmological examination revealed mild ptosis of the left upper eyelid, mild lateral strabismus, and external ophthalmoparesis of the left eye. Retraction and ventral deviation of the left eye globe with protrusion of the third eyelid and elevation of the upper eyelid were elicited on attempted voluntary adduction of the left eye. Hematology, serum biochemistry, serology for infectious diseases, magnetic resonance of the head, and cerebrospinal fluid analysis did not reveal significant abnormalities. Forced duction test did not show signs of mechanical restriction in ocular motility. A suspected congenital cranial dysinnervation disorder resembling Duane retraction syndrome in humans was diagnosed based on the typical clinical signs and exclusion of structural abnormalities. The clinical signs remained stable for 9 months until the time of writing this report. [ABSTRACT FROM AUTHOR]