Search

Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome has previously been reported in only 2 patients with progressive supranuclear palsy (PSP). Herein, we report a third case of WEBINO syndrome with PSP. The patient was an 81-year-old man who had experienced gradually increasing gait disturbance and occasional falls since the age of 78 years. At 80 years of age, he presented with cognitive impairment, parkinsonism, and oculomotor abnormalities. The oculomotor abnormalities consisted of vertical gaze palsy and loss of eye convergence. Brain magnetic resonance imaging demonstrated marked atrophy of the midbrain. He was diagnosed with PSP. At the age of 81 years, he presented with alternating extropia in his forward gaze and adduction paresis and outward nystagmus of the abducted eye in his horizontal gaze, both of which were compatible with WEBINO syndrome. Previously, we reported the first case of PSP with WEBINO syndrome, and another group recently reported a second case. In light of the previous cases and the present case, WEBINO syndrome in PSP should not be considered extremely rare. Furthermore, WEBINO syndrome has not been reported in other neurodegenerative disorders, which suggests that it might be a useful and specific diagnostic finding in PSP. [ABSTRACT FROM AUTHOR]

The syndromes of wall-eyed monocular internuclear ophthalmoplegia and Millard-Gubler are very rare clinical complexes commonly caused by pontine infarction, hemorrhage, or tumors that compromise the paramedian tegmentum, medial longitudinal fascicle, and the basis pontis. We present the case of a 58-year-old female with an isolated pontine infarction characterized by acute vertigo, sudden horizontal diplopia due to ipsilateral internuclear ophthalmoplegia with exotropia, facial palsy and contralateral hemiparesis. This report analyzes, theorizes, and emphasizes the correlation between these atypical neurological findings, the pontine anatomy, and magnetic resonance imaging; encouraging the clinician to make expeditious diagnoses using the bedside skills and a high-quality oculomotor clinical examination. The phenotype and simultaneity of both syndromes makes this case a didactic exercise for the topo-diagnosis based on the neurology of eye movements, the intrinsic physiology of the pons, and the pathways that emerge or project towards it. [ABSTRACT FROM AUTHOR]

Copyright of Revista Brasileira de Oftalmologia is the property of Sociedade Brasileira de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Evidence from genetic and pathologic studies suggests that mitochondrial dysfunction occurs in multiple sclerosis (MS). Furthermore, cases of MS have been reported in patients with mitochondrial disease. The phenotypic range of mitochondrial illness associating with MS is not yet well defined. In this report, we highlight two cases of patients with confirmed genetic mutations responsible for progressive external ophthalmoplegia who independently meet McDonald criteria for MS. Better characterization of the range of mitochondrial disease associated with MS may improve our understanding of MS disease pathophysiology. [ABSTRACT FROM AUTHOR]

The rise in popularity of hyaluronic acid (HA) dermal filler injection has caused an exceptional increase in the number of cases of reported irreversible blindness. Here, we reported a case of ischemic optic neuropathy and ophthalmoplegia following subcutaneous HA filler injection with complete visual recovery. A 31-year-old Chinese woman presented with sudden onset of right monocular visual impairment associated with diplopia. Patient had received a hyaluronic acid-containing filler injection for nasal dorsum augmentation twelve hours prior to presentation. Visual acuity of the right eye was counting finger. A right relative afferent pupillary defect was demonstrated with ophthalmoplegia. Humphrey visual field test disclosed a right inferior altitudinal field defect with impairment of colour vision. Computed tomography of the orbit revealed mild enlargement of the right medial and inferior recti muscles. Our patient showed a tremendous improvement of vision after a subcutaneous hyaluronidase injection with complete visual recovery within 2 weeks. [ABSTRACT FROM AUTHOR]

Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases have been performed so far. We reviewed clinical data from 1398 patients affected with mitochondrial diseases listed in the database of the "Nation-wide Italian Collaborative Network of Mitochondrial Diseases", to assess muscle pain and its features. Muscle pain was present in 164 patients (11.7%). It was commonly observed in subjects with chronic progressive external ophthalmoplegia (cPEO) and with primary myopathy without cPEO, but also—although less frequently—in multisystem phenotypes such as MELAS, MERFF, Kearns Sayre syndrome, NARP, MNGIE and Leigh syndrome. Patients mainly complain of diffuse exercise-related muscle pain, but focal/multifocal and at rest myalgia were often also reported. Muscle pain was more commonly detected in patients with mitochondrial DNA mutations (67.8%) than with nuclear DNA changes (32.2%). Only 34% of the patients showed a good response to drug therapy. Interestingly, patients with nuclear DNA mutations tend to have a better therapeutic response than patients with mtDNA mutations. Muscle pain is present in a significant number of patients with MD, being one of the most common symptoms. Although patients with a myopathic phenotype are more prone to develop muscle pain, this is also observed in patients with a multi system involvement, representing an important and disabling symptom having poor response to current therapy. [ABSTRACT FROM AUTHOR]

Subperiosteal extension of a subgaleal hematoma (SGH) to the orbit is a reported, but rare complication of trauma. This report details a 13-year-old African-American male who originally presented to the emergency department after trauma with headache and was found on CT imaging to have a contained subgaleal hemorrhage. He presented 2 days later with increased pain and proptosis of the left eye with findings of decreased visual acuity, elevated intraocular pressure, proptosis, and complete external ophthalmoplegia. Repeat imaging revealed enlargement of the SGH with subperiosteal extension into the left orbit. He required an emergent lateral canthotomy with inferior and superior cantholysis, followed by surgical drainage of the subperiosteal and SGH. Hematologic workup for coagulopathy was negative. The authors urge point-of-care providers to consider ophthalmic evaluation for patients with large SGHs where orbital extension and vision loss may occur. Furthermore, SGH causing orbital compartment syndrome may develop in patients who have normal blood work and clotting factors. [ABSTRACT FROM AUTHOR]

Background: Mucormycosis is a rapidly progressive, angioinvasive fungal infection that has a predilection for the paranasal sinuses and adjacent mucosa. Rhinocerebral mucormycosis (RCM) is the most common form and is known to invade the skull base and its associated blood vessels—leading to mycotic aneurysms, ischemic infarcts, and intracerebral hemorrhage. There are documented cases of mechanical thrombectomy in ischemic stroke due to RCM, however, there are no known cases that were diagnosed primarily by histological and pathological analysis of the embolus. We present a case of treatment of large vessel occlusion that led to the diagnosis and treatment of RCM. Case Presentation: A 21 year-old male inmate with history of type 1 diabetes presented with generalized weakness, abdominal pain, right eye blindness, and ophthalmoplegia after an assault in prison. He underwent treatment for diabetic ketoacidosis, but subsequently developed left hemiplegia and was found to have complete occlusion of his right internal carotid artery. He underwent successful mechanical thrombectomy and pathological analysis of the embolus revealed a diagnosis of mucormycosis. He completed a course of amphotericin B, micafungin, and posaconazole. With the aid of acute rehabilitation he achieved a modified Rankin score of 2. Discussion: We review the pathogenesis, diagnosis, and treatment of RCM. A comprehensive multidisciplinary approach is critical in the management of this often-fatal disease. Early diagnosis and treatment are essential in RCM as delaying treatment by more than 6 days significantly increases mortality. Treatment includes surgical debridement and intravenous antifungal therapy (amphotericin B + micafungin or caspofungin) for a minimum of 6–8 weeks. [ABSTRACT FROM AUTHOR]

Myasthenia gravis (MG) is a rare, treatable antibody-mediated disease which is characterized by muscle weakness. The pathogenic antibodies are most frequently directed at the acetylcholine receptors (AChRs) at the skeletal muscle endplate. An ophthalmoplegic subphenotype of MG (OP-MG), which is characterized by treatment resistant weakness of the extraocular muscles (EOMs), occurs in a proportion of myasthenics with juvenile symptom onset and African genetic ancestry. Since the pathogenetic mechanism(s) underlying OP-MG is unknown, the aim of this study was to use a hypothesis-generating genome-wide analysis to identify candidate OP-MG susceptibility genes and pathways. Whole genome sequencing (WGS) was performed on 25 AChR-antibody positive myasthenic individuals of African genetic ancestry sampled from the phenotypic extremes: 15 with OP-MG and 10 individuals with control MG (EOM treatment-responsive). Variants were called according to the Genome Analysis Toolkit (GATK) best practice guidelines using the hg38 reference genome. In addition to single variant association analysis, variants were mapped to genes (±200 kb) using VEGAS2 to calculate gene-based test statistics and HLA allele group assignment was inferred through "best-match" alignment of reads against the IMGT/HLA database. While there were no single variant associations that reached genome-wide significance in this exploratory sample, several genes with significant gene-based test statistics and known to be expressed in skeletal muscle had biological functions which converge on muscle atrophy signaling and myosin II function. The closely linked HLA-DPA1 and HLA-DPB1 genes were associated with OP-MG subjects (gene-based p < 0.05) and the frequency of a functional A > G SNP (rs9277534) in the HLA-DPB1 3′UTR, which increases HLA-DPB1 expression, differed between the two groups (G -allele 0.30 in OP-MG vs. 0.60 in control MG; p = 0.04). Furthermore, we show that rs9277534 is an HLA-DBP1 expression quantitative trait locus in patient-derived myocytes (p < 1 × 10−3). The application of a SNP to gene to pathway approach to this exploratory WGS dataset of African myasthenic individuals, and comparing dichotomous subphenotypes, resulted in the identification of candidate genes and pathways that may contribute to OP-MG susceptibility. Overall, the hypotheses generated by this work remain to be verified by interrogating candidate gene and pathway expression in patient-derived extraocular muscle. [ABSTRACT FROM AUTHOR]

The aim of the present study was to describe a rare case of orbital precursor B-lymphoblastic lymphoma (B-LBL) in an adult. A 56-year-old male in complete remission of a gastric precursor B-LBL was referred to our orbital clinic due to rapid development of left-sided painless periorbital swelling, diplopia, and proptosis. Complete ophthalmoplegia was observed. Notably, magnetic resonance imaging showed swelling of the medial and inferior rectus muscles in the left orbit and biopsies were performed. Following histological diagnosis of precursor B-LBL, the patient was treated with radiotherapy (2Gy × 20) and chemotherapy according to the NOPHO ALL 2008 protocol. The disease progressed and the patient succumbed after 5 months. Histomorphologically, a lymphoblastic infiltrate was observed within the skeletal muscle tissue. The tumor cells were small and immature, and stained strongly for cluster of differentiating (CD)10, CD79a, paired box 5 and B cell lymphoma-2. The Ki-67 proliferative index was 90%. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization detected whole chromosomal gain of X and 12, and both hemizygous and homozygous deletion on 9p comprising cyclin dependent kinase inhibitor 2A/B. Furthermore, array comparative genomic hybridization detected copy number imbalances consisting of focal or smaller deletions on chromosomes 1, 9, 10, 11 and 20. The final diagnosis was precursor B-LBL relapse in the extraocular muscles. Orbital precursor B-LBL is extremely rare in adults, and the diagnosis may be challenging to make. It is recommended to obtain material for cytogenetic and molecular analyses. [ABSTRACT FROM AUTHOR]

Objectives: To determine the frequency of various clinical features of Guillian Barre Syndrome in patients presenting to a tertiary care hospital in Karachi. Study Design: Descriptive study. Period: July 2015 to December 2015. Setting: Tertiary care hospitals of Karachi. Material & Methods: Seventy five diagnosed case of GBS who fulfill the inclusion criteria irrespective of gender included in the study after informed consent. Data was collected on preformed proforma. Detailed history, physical examination was done on each patient, diagnosis was confirmed on NCV & EMGs. Data analysis procedure was done with the help of SPSS version 16. Mean±SD was calculated for age of the patient and duration of clinical features. Frequency and percentages were calculated for different clinical features. Stratification was done with respect to age, gender and duration of clinical features to control effect modifiers in the study. Results: Mean age was 43.96±14.22 (ranging from 15 to 70) years, among 75 patients 51(68%) were male & 24(32%) were female, majority of patients (34) were >50 years of age, 45.3% of patients had pain in extremities; pain in back was reported by 49.3%. Dysphagia in 80%, Ophthalmoplegia in 20% and Dysarthria in 16% of patients Respiratory failure was prevalent in 34.7% patients. Sinus tachycardia occurred in 49.3%, Sinus bradycardia 14.7% patients and 20% patients had urinary dysfunction. Constipation was also a predominant feature affecting 80% of patients. Conclusion: We found that GBS occurred at all ages and was more common in males. There are various clinical features of GBS along with flaccid limbs weakness clinical features observed & these should be address promptly for better outcome. [ABSTRACT FROM AUTHOR]

Background: While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genetic ancestry. Previously, using whole exome sequencing, we reported potentially functional variants which associated with OP-MG. The aim of this study was to profile the expression of genes harbouring the OP-MG associated variants using patient-derived subphenotype-specific 'myocyte' cultures.Methods: From well-characterised MG patients we developed the 'myocyte' culture models by transdifferentiating dermal fibroblasts using an adenovirus expressing MyoD. These myocyte cultures were treated with homologous acetylcholine receptor antibody-positive myasthenic sera to induce muscle transcripts in response to an MG stimulus. Gene expression in myocytes derived from OP-MG (n = 10) and control MG subjects (MG without ophthalmoplegia; n = 6) was quantified using a custom qPCR array profiling 93 potentially relevant genes which included the putative OP-MG susceptibility genes and other previously reported genes of interest in MG and experimental autoimmune myasthenia gravis (EAMG).Results: OP-MG myocytes compared to control MG myocytes showed altered expression of four OP-MG susceptibility genes (PPP6R2, CANX, FAM136A and FAM69A) as well as several MG and EAMG genes (p < 0.05). A correlation matrix of gene pair expression levels revealed that 15% of gene pairs were strongly correlated in OP-MG samples (r > 0.78, p < 0.01), but not in control MG samples. OP-MG susceptibility genes and MG-associated genes accounted for the top three significantly correlated gene pairs (r ≥ 0.98, p < 1 × 10- 6) reflecting crosstalk between OP-MG and myasthenia pathways, which was not evident in control MG cells. The genes with altered expression dynamics between the two subphenotypes included those with a known role in gangliosphingolipid biosynthesis, mitochondrial metabolism and the IGF1-signalling pathway.Conclusion: Using a surrogate cell culture model our findings suggest that muscle gene expression and co-expression differ between OP-MG and control MG individuals. These findings implicate pathways not previously considered in extraocular muscle involvement in myasthenia gravis and will inform future studies. [ABSTRACT FROM AUTHOR]

An otherwise healthy 30-year-old male acquired gastrointestinal beriberi and subsequent Wernicke's encephalopathy after 1 session of heavy drinking. Nausea, vomiting, and anorexia relentlessly progressed. The patient developed external ophthalmoplegia after 2 months. Intravenous 1,000 mg thiamine reversed both neurologic and gastrointestinal symptoms within hours. It is hard to diagnose gastrointestinal beriberi since the symptoms are nonspecific. The patient underwent 11 emergency room visits, 3 hospital admissions, and laparoscopic cystectomy within 2 months, but the gastrointestinal symptoms continued to progress. Two months after the onset of gastrointestinal symptoms, external ophthalmoplegia appeared, and, therefore, intravenous thiamine was given. The simultaneous resolution of the debilitating gastrointestinal symptoms and external ophthalmoplegia was unique. Thiamine deficiency remains underdiagnosed and should be considered in patients who develop unexplained gastroparesis or autonomic nervous failure of the digestive system, even in the nonalcoholic population. [ABSTRACT FROM AUTHOR]

Miller Fisher syndrome (MFS) is characterized by a clinical triad of ophthalmoplegia, ataxia, and areflexia, and is closely associated with serum anti-GQ1b antibody. Although the clinical triad is the cardinal diagnostic clue, a variety of other symptoms and signs beyond the triad have been reported. To elucidate the frequency and characteristics of atypical clinical manifestations of MFS, we recruited 38 patients with MFS and evaluated the symptoms or signs beyond the classic triad. Eleven (29%) of 38 patients had atypical clinical manifestations of MFS such as headache (n = 6), delayed facial palsy (n = 3), divergence insufficiency (n = 2), and taste impairment (n = 2). Headache was localized to the periorbital (n = 3), temporal (n = 2), or whole (n = 1) area. Only one of them showed bilateral papilledema and an elevated opening pressure in cerebrospinal fluid analysis. Delayed facial palsy developed after the other signs have reached nadir (n = 1) or started to improve (n = 2), and did not follow a pattern of descending paralysis with other cranial neuropathies. Two patients showed divergence insufficiency without external ophthalmoplegia, and another two had taste impairment over the entire tongue without the other signs of facial and glossopharyngeal nerve involvements. Our study shows that approximately 30% of MFS patients can have atypical clinical manifestations beyond the classic triad. These results reflect the broad clinical spectrum of MFS, and might be associated with the presence of additional antiganglioside antibodies besides anti-GQ1b in patients with MFS. [ABSTRACT FROM AUTHOR]

We hereby report a case of metastatic Ewing's sarcoma presenting with rapid-onset total ophthalmoplegia, optic atrophy, and right temporal hemianopia. Comprehensive ophthalmic and neurological evaluation with targeted radioimaging revealed a tumor mass centered over the sella, compressing optic chiasma, extending to involve the left cavernous sinus and the left orbital apex. Whole-body imaging revealed the evidence of multifocal lung and mediastinal metastasis with focal lytic defect in the left femoral head. Histopathological evaluation of transnasal punch biopsy from the nasopharyngeal extension of the tumor revealed small round-cell tumor with strong CD99 positivity, supporting the diagnosis of Ewing's sarcoma. Rapid, aggressive extensions of the metastatic tumor into vital structures despite the initiation of chemoradiation of the extensive intracranial tumor led to unexpected demise of the patient. Our case is an unusual case of Ewing's sarcoma metastasis manifesting as a sellar mass and mimicking a pituitary adenoma radiologically, with a rapid progression within 2 weeks to cause massive extension of tumor into suprasellar, infrasellar, and left parasellar area, indicative of highly malignant nature of the tumor. [ABSTRACT FROM AUTHOR]

Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders. Presentation during infancy is typical and ranges from delayed motor milestones and proximal muscle weakness to severe respiratory impairment and ophthalmoplegia. We aimed to elucidate correlations between genotype, protein structure and clinical phenotype in this rare disease population. Genetic and clinical data from 47 affected individuals were analyzed and variants mapped to the cryo-EM RyR1 structure. Comparisons of clinical severity, motor and respiratory function and symptomatology were made according to the mode of inheritance and affected RyR1 structural domain(s). Overall, 49 RYR1 variants were identified in 47 cases (dominant/de novo, n = 35; recessive, n = 12). Three variants were previously unreported. In recessive cases, facial weakness, neonatal hypotonia, ophthalmoplegia/paresis, ptosis, and scapular winging were more frequently observed than in dominant/de novo cases (all, p < 0.05). Both dominant/de novo and recessive cases exhibited core myopathy histopathology. Clinically severe cases were typically recessive or had variants localized to the RyR1 cytosolic shell domain. Motor deficits were most apparent in the MFM-32 standing and transfers dimension, [median (IQR) 85.4 (18.8)% of maximum score] and recessive cases exhibited significantly greater overall motor function impairment compared to dominant/de novo cases [79.7 (18.8)% vs. 87.5 (17.7)% of maximum score, p = 0.03]. Variant mapping revealed patterns of clinical severity across RyR1 domains, including a structural plane of interest within the RyR1 cytosolic shell, in which 84% of variants affected the bridging solenoid. We have corroborated genotype-phenotype correlations and identified RyR1 regions that may be especially sensitive to structural modification. [ABSTRACT FROM AUTHOR]

First, our patient had recurrent MFS in which her signs/symptoms during the second episode were more severe than those of the first; during relapse, her levels of antibodies to isolated gangliosides were higher, and her anti-GSC antibody profile response pattern was narrowed. In conclusion, we suggest that measuring antiganglioside antibodies, including GSC antibodies, in patients with recurrent MFS may elucidate the potential immunological mechanism of the condition, as well as the relationship between antibody profiles and signs/symptoms. Although serum anti-GM1 IgG antibody titers do not correlate with symptom severity among individuals with GBS [[4]], it is possible that in an individual patient, changes in MFS severity correlate with changes in antibody titers of isolated gangliosides. [Extracted from the article]

Expanding the genotypic and phenotypic spectrum of Beta-propeller potein-associated neurodegeneration Beta-propeller protein-associated neurodegeneration (BPAN) is a very rare early-onset neurodevelopmental-neurodegenerative disorder due to X-linked dominant mutations of the I WDR45 i gene [1,2]. The pathognomonic MRI finding is the T1-weighted mesencephalic hyperintense signal surrounding the substantia nigra. [Extracted from the article]

Actinic keratosis is considered a precancerous lesion, constituting a precursor to squamous cell carcinoma (SCC) formation. Perineural invasion has been observed in patients with cutaneous carcinoma due to local subcutaneous tissue destruction and primarily involves the trigeminal nerve due to rich innervation provided by the supraorbital nerve in addition to the facial nerve. An unusual case of perineural infiltration and orbital invasion of squamous cell carcinoma associated with actinic keratosis is presented. A 70-year-old Caucasian woman presented with complete left eye ophthalmoplegia, total left upper-eyelid ptosis, and facial pain with paresthesia. Computed tomography revealed a process of the soft tissues in the left cheek infiltrating the infraorbital canal, pterygopalatine fossa, inferior orbital fissure, and left cavernous sinus with periosteal adherence. Magnetic resonance imaging revealed pathological extension via the left infraorbital canal with a considerable area of necrosis. Treatment of facial actinic keratosis may not prevent malignant transformation and can delay diagnosis and treatment of SCC. A deep biopsy appears to be essential for a correct diagnosis. Perineural spread of cutaneous SCC may be characterized by insidious progression in the cranial trigeminal nerve, abnormal ocular motility, diplopia, or external ophthalmoplegia. [ABSTRACT FROM AUTHOR]

Miller Fisher syndrome (MFS) is a rare, acquired nerve disorder which is a subtype of Guillain- Barré syndrome. A thirty-five-year-old male presented with an inability to move both eyes in any direction and history of mild upper respiratory tract infection 7 days before presentation. On examination, vital signs were within the normal range. There was bilateral Intra Nuclear Ophthalmoplegia (INO) which progressed to complete ophthalmoplegia with fixed dilated pupils and facial nerve diplegia associated with normal motor strength and reflexes in all extremities. Radiological and laboratory assessments were normal except the patient tested positive for anti-GQ1b antibodies, 481% ration which indicates MFS. The patient was given three cycles of intravenous immunoglobulin for five days, after which, he improved and was discharged from the hospital. [ABSTRACT FROM AUTHOR]

Sir, A 17-year-old male with a history of low-grade fever for 2 months, headache for 15 days, and diplopia and drooping of the right upper eyelid for 10 days, was admitted to our hospital. MRI brain was repeated at 1 month, which showed resolving hydrocephalus and reduction in size of the brainstem tuberculomas [Figure 1]b. [Extracted from the article]

CPEO may not only be due to single mtDNA deletions but also due to multiple mtDNA deletions, mtDNA depletions, and point mutations in mtDNA or nDNA located genes. The aim of the study to calculate the incidence of exophthalmus in Japanese CPEO patients is discordant with the study design. We read with interest the article by Takeda et al. on a case series of seven patients with chronic progressive external ophthalmoplegia (CPEO) due to a single mtDNA deletion who also developed exophthalmus [1]. [Extracted from the article]

Copyright of Arquivos Brasileiros de Oftalmologia is the property of Arquivos Brasileiros de Oftalmologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We report the case of a 46-year old African American woman who presented to the emergency department with one week of progressive bilateral deafness associated with worsening gait abnormalities, visual changes, and confusion. She was diagnosed with Wernicke encephalopathy (WE) attributed to alcohol abuse; her symptoms, including hearing loss, improved with thiamine replacement. WE, a condition due to thiamine deficiency, commonly affects those with alcohol use disorder or gastric bypass history. Though traditionally associated with a triad of encephalopathy, ophthalmoplegia, and ataxia, it can be more rarely associated with auditory deficits or other neurologic findings. Though hearing loss has previously been reported as a rare symptom of WE, it has not been described in WE due to alcohol abuse. We performed a review of the literature to determine if WE associated with hearing loss had been previously reported. [ABSTRACT FROM AUTHOR]

Wernicke encephalopathy (WE) is characterized by a clinical triad of ataxia, ophthalmoplegia, and altered mental state. It is said to be a rare entity in infants and children. We describe the case of a 2-year-old child with acute leukemia on chemotherapy who presented with acute encephalopathy. Blood parameters and cerebrospinal fluid analysis were normal, and magnetic resonance imaging of the brain revealed isolated cranial nerve nuclei involvement. There was remarkable improvement in sensorium following thiamine therapy. A high index of suspicion is necessary to diagnose WE in high-risk patients such as leukemia. [ABSTRACT FROM AUTHOR]

A 60-year-old man presented with no light perception, ptosis and ophthalmoplegia in the right eye. The right fundus examination showed marked optic disc swelling. Serological tests for infectious and infiltrative diseases were all negative. Serum aquaporin-4 antibodies were negative, but anti-myelin oligodendrocyte glycoprotein (MOG) antibodies were positive. Magnetic resonance imaging revealed an extensive lesion in the right optic nerve with abnormal enhancement in the right orbital apex. His vision and eye movements improved after corticosteroid therapy. This report attests to the wide clinical phenotype possible in anti-MOG disease, including orbital apex syndrome. [ABSTRACT FROM AUTHOR]

Allergic fungal sinusitis (AFS), a noninvasive form of fungal sinusitis, is rarely seen in immunocompetent patients. Involvement of sphenoid sinus can result in proptosis and loss of vision. We report AFS masquerading as posterior cavernous sinus syndrome. A 59-year-old African-American man presented with right complete ptosis with ophthalmoplegia. After an initial work-up and imaging studies, patient underwent endonasal sphenoid surgery, which revealed characteristic 'allergic fungal mucin'. Cavernous sinus syndrome is a rare presenting clinical feature of allergic fungal sinusitis. Ophthalmologists should be aware of this rare presentation of relatively common otorhinological disease for timely referral and appropriate management. [ABSTRACT FROM AUTHOR]

We present a case of classic Miller Fisher Syndrome (MFS) variant of Guillain-Barre Syndrome (GBS) with detailed description in the difference between the internal and external ophthalmoplegia. They are different in their onset, duration, and recovery. [ABSTRACT FROM AUTHOR]

Herpes zoster becomes latent in the sensory ganglia after the primary infection and may reactivate many years later to produce shingles in adults. Involvement of the ophthalmic branch of the trigeminal nerve with this virus is called Herpes zoster ophthalmicus (HZO). The eyelid skin, cornea, uvea, retina, optic nerve and other cranial nerves can be affected by HZO. Isolated internal ophthalmoplegia can rarely be seen. Clinicians should be aware of this condition and HZO must be kept in mind in the differential diagnosis of anisocoria. [ABSTRACT FROM AUTHOR]

Introduction: Mitochondrial DNA polymerase gamma (pol γ) encoded by POLG plays an indispensable role in the process of mitochondrial DNA replication and repair. The mutation of POLG can result in mitochondrial dysfunction leading to a broad spectrum of disease. Methods: We report a 29-year-old Chinese female presented with levodopa-responsive parkinsonism, external ophthalmoplegia and optic atrophy. We conducted clinical, molecular iconographic, histological and genetic analyses on this patient. Results: Sequencing of the POLG gene revealed compound heterozygote mutations of a novel c.2693T > C (p.I898T) mutation in exon17 and c.2993C > T (p.S998L) in exon19. The mutation c.2693T > C (p.I898T) has never been reported. Also our patient's cardinal symptoms are rare and different from other cases which have been reported. Conclusion: This finding of ours has broadened the spectrum of phenotype caused by the mutation of POLG. [ABSTRACT FROM AUTHOR]

Objective: Tolosa-Hunt syndrome (THS) is a rare disease characterized by painful unliteral ophthalmoplegia and headache. THS is caused by granulomatous inflammation of the cavernous sinus, and its diagnosis is typically made by elimination and exclusion. The characteristic pain can typically be managed with steroid therapy, but relapses are common. Additional therapy is needed for refractory or recurrent cases. Methods: Herein, using the electronic medical record with institutional review board approval, we report a case of a pediatric patient diagnosed with corticosteroid-dependent THS. The child was effectively treated with the tumor necrosis factor inhibitor (TNFi), adalimumab. We have reviewed the THS literature, including 2 adult THS patients who have been successfully treated with intravenous TNFi, infliximab. Results: This is the first report in the scientific literature to effectively treat pediatric THS, and also the first such case to use adalimumab to successfully treat THS. Conclusion: Adalimumab, a subcutaneous TNFi, appears to be an effective treatment for corticosteroid- dependent THS. [ABSTRACT FROM AUTHOR]

Amyloidosis and lymphoma localized to the ocular adnexa are rare, and their presentation may resemble more common inflammatory conditions such as autoimmune disease or infection, which can protract diagnostic evaluation and delay eventual therapy. In a patient with recalcitrant facial and tooth pain and ophthalmoplegia, evaluation should include careful histopathologic analysis of biopsy specimens. We report a case of orbital AL amyloidosis associated with localized lymphoma that presented with intractable dental pain and progressed to bilateral complete ophthalmoplegia. [ABSTRACT FROM AUTHOR]

The article presents a case of a 17-month-old boy with bilateral corneal haze in the course of Pearson syndrome - a rare mitochondrial disease. In this paper the cause, course and ophthalmologic changes in this disease have been cited and discussed. [ABSTRACT FROM AUTHOR]

Ischaemic oculomotor nerve (CN III) palsies frequently present with abrupt onset ptosis, ophthalmoplegia, diplopia, ipsilateral pain, and little to no anisocoria. An isolated microvascular ischaemic insult to the superior division of CN III is uncommon, and usually affects both the superior rectus and levator muscles. We present a rare case of an ischaemic CN III palsy isolated to the levator palpebrae superioris muscle only. Although rare, microvascular ischaemic CN III palsies should be on the differential of isolated ptosis. Other causes of isolated ptosis, such as myasthenia gravis or an orbital lesion, should be excluded. [ABSTRACT FROM AUTHOR]

Miller Fischer syndrome (MFS) is a variant of Guillain-Barré syndrome first described in 1956 and is characterised by the clinical triad of ophthalmoplegia, ataxia and areexia. However, since its discovery, forme fruste and overlapping syndrome have been described. A forme fruste of MFS implies an attenuated form where not all of the clinical triad are present. In this report, a case of MFS is highlighted that was mistakenly treated as posterior circulation stroke, as well as the challenges faced in reaching the correct diagnosis and hence the appropriate treatment. [ABSTRACT FROM AUTHOR]

Cavernous sinus thrombosis is a severe encephalic complication of the cervicofacial infections that can lead to death if not treated in adequate time. Among the several etiologies related to the development of this infection, myiasis has not been reported, enforcing the importance of the report of a case of thrombosis of the cavernous sinus developed from a facial myiasis. [ABSTRACT FROM AUTHOR]

The article investigates the case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome in an adult. It highlights the inferior olivary hypertrophy and cerebellar atrophy on the magnetic resonance imaging of the brain. Also examined is the prognosis of distinctive cerebral neuropathology.

Ipilimumab and Nivolumab are novel monoclonal antibodies that have recently been used successfully for treatment of metastatic melanoma. Ipilimumab is a human monoclonal antibody against Cytotoxic T Lymphocyte Antigen 4 (CTLA4) receptor, which suppresses T-cell proliferation and stimulates an inflammatory response against cancer cells. Nivolumab is an IgG4 monoclonal antibody against the cytotoxic T lymphocyte associated programmed death 1 receptor (PD-1). Ipilimumab and Nivolumab combination treatment has been shown to induce remission and prolong survival in patients with metastatic melanoma. The side effect profile of these medications has not been well studied. One entity of the side effects reported in the literature is immune-related adverse events (irAEs). There have been few case reports where these events were serious and irreversible. In this case report, we describe a fatal and severe diffuse panmyositis that involved the cardiac, respiratory, and extraocular muscles in a patient with metastatic melanoma secondary to combination treatment with Ipilimumab/Nivolumab. [ABSTRACT FROM AUTHOR]

The medial canthus represents one of the most challenging regions of the face to reconstruct due to the anatomical structures present, the concavity of the area, and the differences in skin texture. We present a case series of 11 patients whose defects were reconstructed with a single V-Y island pedicle flap running along the nasofacial sulcus. Our single-stage flap which modified and simplified a previously described technique achieves similar cosmetic and postoperative outcomes along with a high level of patient satisfaction in an area which can be reconstructed in a variety of ways, often with suboptimal results. [ABSTRACT FROM AUTHOR]

Oculomotor nerve palsy (ONP) is an important and common clinical diagnosis. Its main features are diplopia and ptosis. Its aetiologies are various and complex. A number of different conditions have been reported to cause ONP, such as diabetes mellitus, aneurysm, tumours, painful ophthalmoplegia, pituitary lesions, cavernous sinus lesions, central nervous system infections, and subarachnoid haemorrhage. A patients needs to undergo several tests in order to establish the correct underlying pathology. In this review, we have summarized the aetiologies of the unilateral ONP, and discussed their relative clinical features, pathogenesis, diagnostic criteria, treatment options, and prognosis. We searched PubMed for papers related to ONP and its aetiologies, and selected the publications, which seemed appropriate. [ABSTRACT FROM AUTHOR]

Invasive fungal sinusitis causes painful orbital apex syndrome with ophthalmoplegia and visual loss; the mechanism is unclear. We report an immunocompromised patient with invasive fungal sinusitis in whom the visual loss was due to posterior ischaemic optic neuropathy, shown on diffusion-weighted MRI, presumably from fungal invasion of small meningeal-based arteries at the orbital apex. After intensive antifungal drugs, orbital exenteration and immune reconstitution, the patient survived, but we were uncertain if the exenteration helped. We suggest that evidence of acute posterior ischaemic optic neuropathy should be a contra-indication to the need for orbital exenteration in invasive fungal sinusitis. [ABSTRACT FROM AUTHOR]

Rare case of bilateral internuclear ophthalmoplegia (INO) following head injury in 25-year-old male is being reported. The site of the lesion in the mid-brain as detected in the magnetic resonance imaging (MRI) correlates well with the clinical presentation. The patient recovered on conservative treatment with a course of dexamethasone (for brainstem contusion). [ABSTRACT FROM AUTHOR]