Search

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. [ABSTRACT FROM AUTHOR]

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]

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]

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]

Since the mother also had diet-related VB12D, VB12D in the index patient was attributed to intrauterine VB12D [[1]]. Keywords: Vitamin-B12; Neuropathy; Cranial nerves; Demyelination; Ophthalmoparesis EN Vitamin-B12 Neuropathy Cranial nerves Demyelination Ophthalmoparesis 2269 2270 2 08/18/23 20230901 NES 230901 Dear Editor: We read with interest the article by Krishna et al. who reported on a 1-year-old male diagnosed with bilateral abducens palsy secondary to congenital dietary vitamin-B12 deficiency (VB12D) [[1]]. [Extracted from the article]

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]

Background: Basilar artery occlusion can cause locked-in syndrome, which is characterized by quadriplegia, anarthria, and limited communication via eye movements. Here, we describe an uncommon stroke syndrome associated with endovascular recanalization of the top of the basilar artery: "reverse locked-in syndrome."Methods: We report the case of a patient with atypical neurological deficits caused by acute ischemic stroke of the midbrain tegmentum. We perform neuroanatomic localization of the patient's infarcts by mapping the magnetic resonance imaging (MRI) data onto a brainstem atlas.Results: A 61-year-old man presented with acute coma and quadriplegia due to top of the basilar artery occlusion. He underwent emergent endovascular thrombectomy, with successful recanalization of the basilar artery at 4 h and 43 min post-ictus. The patient regained consciousness and purposeful movement in all four extremities, but the post-procedure neurological examination demonstrated bilateral ptosis with complete pupillary and oculomotor paralysis. MRI revealed infarction of the bilateral oculomotor nuclei in the midbrain tegmentum. At 9-month follow-up, he had anisocoria and dysconjugate gaze, but was living at home and required minimal assistance in performing all activities of daily living.Conclusions: Since the patient's deficits were the exact opposite of those described in locked-in syndrome, we propose the term "reverse locked-in syndrome" to describe this neurological entity characterized by bilateral ptosis, non-reactive pupils, and ophthalmoplegia with preservation of consciousness and extremity motor function. [ABSTRACT FROM AUTHOR]

Introduction: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling.Methods: Clinical course and electrophysiological, pathological, and genetic findings were assessed.Results: We describe the case of a boy with prenatal onset and severe respiratory symptoms with a persisting need for ventilation. The patient had severe bulbar symptoms, marked axial weakness causing a "dropped head," and some facial and proximal weakness. Ophthalmoparesis developed during the first year of life. Salbutamol led to improvement, 3,4-diaminopyridine had a modest effect, but pyridostigmine produced deterioration. Two novel mutations in MUSK were found by whole exome sequencing.Conclusions: We expand the phenotype of congenital myasthenic syndromes with MUSK mutations, describing a more severe clinical course with prenatal onset. Predominant bulbar and respiratory weakness with facial and axial weakness and ophthalmoparesis are diagnostic clues. [ABSTRACT FROM AUTHOR]

Background Clinical diagnosis of POLG -related disorders can be challenging because the phenotypic spectrums are heterogeneous which can mimic different types of mitochondrial disorders. Case We report a case of POLG -related disorder in an 18 y Chinese girl who had been diagnosed as MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) for the past 8 y. She first presented at 10 y with sudden onset of headache, repeated focal seizures and visual loss, complicated with residual sensory and motor neuropathy, ophthalmoparesis and cortical blindness. MRI brain showed extensive cytotoxic edema and ischemia in bilateral parietal–occipital lobes. Mutation analysis for common point mutations in the mitochondrial DNA and muscle biopsy was negative. She was referred to us for mitochondrial whole genome analysis. However, no pathogenic variants can be determined. We initiated further genetic analysis for POLG which confirmed compound heterozygous mutations NM_002693.2 :c.925C>T (p.Arg309Cys) and a novel mutation c.2244G>T (p.Trp748Cys). Both were determined to be pathogenic using in silico analysis. Conclusions The novel mutation contributes to the expanding spectrum of disease-causing mutations. A definitive diagnosis can benefit our patient and also the relatives by avoiding sodium valproate induced liver toxicity in POLG patients and also the heterozygotes. [ABSTRACT FROM AUTHOR]

Miller Fisher's syndrome is a rare variant of Guillain-Barré's syndrome characterized by the acute development of ataxia, ophthalmoparesis, and areflexia. Most patients have a measureable antibody in serum directed against the GQ1b ganglioside. This antibody is also present in the serum of patients with other forms of Guillain-Barré's syndrome who have prominent ataxia or ophthalmoplegia as part of their clinical presentation. Miller Fisher's syndrome generally is self-limited and has an excellent prognosis. [ABSTRACT FROM AUTHOR]

We describe the case of an 85-year-old gentleman admitted with bilateral ptosis and complete bilateral ocular paralysis. Initial differential diagnoses included myasthenia gravis, diabetic cranial neuropathy, an ischaemic event and possible occult neoplasm. Investigations did not support any of the differentials and Miller Fisher syndrome (MFS) was considered. Anti-GQ1b IgG antibody was positive, supporting the possibility of anti-ganglioside syndrome. This gentleman was treated with intravenous immunoglobulin (IVIG) and made a full recovery. [ABSTRACT FROM PUBLISHER]

Abstract: A 35-year-old man presented with a meningeal syndrome and acute onset of visual blurring. Clinical investigations revealed bacterial meningitis with bilateral papillitis and ophthalmoparesis. Serum and cerebrospinal fluid serology confirmed the diagnosis of chronic active neurobrucellosis. Following therapy there was no improvement and he developed optic atrophy. Extensive literature review revealed, one case of bilateral irreversible papillitis resulting from neurobrucellosis. However no cases of neurobrucellosis have been reported with meningitis, irreversible papillitis and ophthalmoparesis. This case demonstrates that in endemic areas, acute meningitis is a potential manifestation of neurobrucellosis and that bilateral irreversible papillitis with ophthalmoparesis can be a potential serious complication. [Copyright &y& Elsevier]

This article presents a 6-year-old girl who developed acute unilateral third cranial nerve palsy in the absence of any other sign of central nervous system involvement. Raised titers of immunoglobulin M antibodies against GM1, GD1a, and GD1b ganglioside components were demonstrated. Ten days earlier, the girl had experienced acute gastroenteritis with positive specific immunoglobulin M antibodies against enterovirus. The results of all other laboratory tests usually performed for infectious diseases were negative, and neuro-radiologic findings were also normal. Oral prednisone was administered for a few days, and the ophthalmoparesis fully resolved within 1 month. Two months later, a second episode of isolated ophthalmoparesis occurred, again associated with a positive immunoglobulin M reaction against GM1, GD1a, and GD1b antigens. This report discusses the relationship between acute isolated ophthalmoparesis and antiganglioside antibodies. [ABSTRACT FROM AUTHOR]

Abstract: Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO, a specific mitochondrial phenotype first reported in 1997 in association with multiple mitochondrial DNA deletions and mutations in POLG1 or more rarely in the C10orf2 (twinkle-helicase) gene. We report a 44-year-old man with SANDO who harboured two novel mutations (P648R/R807C) in the POLG1 gene. [Copyright &y& Elsevier]