RESUMO
ATX-FGF14 (formerly spinocerebellar ataxia 27, OMIM #193003) is an autosomal dominant condition caused by a pathogenic variant in the fibroblast growth factor 14 (FGF14, OMIM #601515) gene located on chromosome 13. The phenotypic expression can vary in patients with the same genotype, often delaying diagnosis, especially in probands without known affected relatives and/or with limited available family history. We describe 2 cases of ATX-FGF14 in 1 family with a focus on the importance of differentiating episodic manifestations of neurogenetic conditions from inflammatory/autoimmune neurologic conditions. A 68-year-old male patient (case 1) presented with episodic dysarthria, dizziness, imbalance, and encephalopathy, creating suspicion for a possible autoimmune etiology. At the first evaluation, the patient reported no significant family history. Four years later, on revisiting the family history, he noted that his 49-year-old niece (case 2) had also developed neurologic symptoms of an unclear etiology. On evaluation, she had tremor and ataxia. Both patients also had coexistent evidence of systemic autoimmunity that likely contributed to the initial suspicion of neurologic autoimmunity, and neither had cerebellar or brainstem volume loss. Ultimately, their genetic testing revealed a pathogenic structural variant in the FGF14 gene, consistent with ATX-FGF14. These 2 cases highlight the importance of a detailed interval family history at each visit, especially in undiagnosed adult patients, as well as the importance of objectively analyzing the impact of immunotherapy diagnostic treatment trials to avoid unnecessary immunomodulatory medications.
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Degenerações Espinocerebelares , Masculino , Adulto , Feminino , Humanos , Idoso , Pessoa de Meia-Idade , Ataxia/genética , Cerebelo/metabolismo , Fatores de Crescimento de Fibroblastos/genética , Fatores de Crescimento de Fibroblastos/metabolismoRESUMO
BACKGROUND: Sharp edge eye syndrome (SEES), sometimes known as visual looming syndrome, is a condition in which the patient experiences ocular pain or discomfort when viewing or mentally picturing sharp objects and edges. Patients may present for medical care because they perceive the condition to represent an ophthalmic problem or a sign of a more serious underlying condition. An individual case report of SEES is included to aid in illustrating syndrome characteristics. Our aim is to describe the syndrome, vision-related quality of life (VRQOL), and psychosocial characteristics in patients with self-identified SEES. METHODS: A cross-sectional web-based survey was made available on social media webpages dedicated to SEES. The study included 22 questions developed by the research team, demographic questions, and 4 standardized questionnaires [ID Migraine, the National Eye Institute's Visual Function Questionnaire (NEI-VFQ-25), General Anxiety Disorder-2 (GAD-2), and Patient Health Questionnaire (depression) Scale-2]. RESULTS: Seventy-seven respondents had an average age of 29 and were 57% male. 92% reported symptoms before age 18. The main site of pain or discomfort was the eyes, with onset resulting from viewing or thinking of sharp objects and edges. Symptoms lasted from seconds to hours and could be prolonged even after closing eyes or avoiding viewing the trigger. The composite and subscale scores on the NEI-VFQ-25 were low, with a mean composite score of 78 and selected subscores of general health (61), general vision (73), ocular pain (68), driving (79), mental health (61), and role difficulties (72). Anxiety was reported in 58% of participants, and depression in 57%. Migraine or headache was reported in 46% of participants. Participants reported Alice in Wonderland syndrome, visual snow, obsessive-compulsive disorder, attention deficit hyperactivity disorder, stripe-induced visual discomfort, and synesthesia. CONCLUSION: From this survey, we have the beginnings of an understanding of the characteristics of SEES, as well as VRQOL impacts. These survey responses lead us to postulate that SEES may be a distinct visual phenomenon and to propose SEES criteria. Systematic studies of this condition's clinical features and treatment responses will be additional steps toward improving patient care.
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Transtornos de Enxaqueca , Qualidade de Vida , Humanos , Masculino , Adulto , Adolescente , Feminino , Estudos Transversais , Inquéritos e Questionários , Dor Ocular/diagnóstico , DorRESUMO
BACKGROUND: This study evaluates the effectiveness of a multidisciplinary protocol for management of patients with papilledema and vision loss secondary to increased intracranial pressure. METHODS: Retrospective record review of all adult patients who presented with vision-threatening papilledema (VTPE) and were treated under this protocol. Patients are admitted for lumbar drain placement and diuretics and followed daily to determine if they may be managed medically or require surgery (optic nerve sheath fenestration [ONSF] and/or cerebrospinal fluid [CSF] shunting). RESULTS: Nineteen patients were included. Twelve had body mass index in the obese range and 6 were morbidly obese. Fourteen had idiopathic intracranial hypertension. Five had secondary pseudotumor cerebri syndrome related to medication use, dural venous sinus thrombosis, hypothyroidism, end-stage renal disease, pulmonary disease, and diastolic heart failure. Three patients did not require surgery and were discharged on oral diuretics; 3 patients underwent unilateral ONSF, 9 underwent bilateral ONSF, and 4 underwent bilateral ONSF followed by ventriculoperitoneal shunt placement. The average follow-up was 10.1 months. The visual acuity improved bilaterally in 12 patients and unilaterally in 4 patients. The remaining 3 patients had worsened vision in both eyes. Fifteen patients had bilateral improvement in their visual fields. Five eyes in 3 patients showed further constriction of the visual field at follow-up. CONCLUSIONS: We demonstrate how a multidisciplinary complex care protocol for treating VTPE can expedite and streamline treatment and restore vision. We found that most patients had improved symptoms and signs, including visual acuity, visual fields, and papilledema. We encourage institutions that manage VTPE to adopt similar institutional protocols.
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Obesidade Mórbida , Papiledema , Pseudotumor Cerebral , Adulto , Humanos , Papiledema/diagnóstico , Papiledema/etiologia , Papiledema/terapia , Nervo Óptico/patologia , Estudos Retrospectivos , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/cirurgia , DiuréticosRESUMO
BACKGROUND: Although patients with abnormal light sensitivity may present to an ophthalmologist or optometrist for the evaluation of photophobia, there are no previous reviews of the most common causes of this symptom. METHODS: We conducted a retrospective chart review of patients who presented to our eye center between 2001 and 2009 primarily for the evaluation of photophobia. We recorded demographics, ocular examination findings, and diagnoses of these patients. RESULTS: Our population included 58 women and 53 men. The mean age at presentation to the clinic was 37 years (range 6 months-94 years). The most frequent cause of photophobia was migraine headache (53.7%), followed by dry eye syndrome (36.1), ocular trauma (8.2%), progressive supranuclear palsy (6.8%), and traumatic brain injury (4.1%). A significant proportion of patients (25.9%) left the clinic without a cause for their photophobia documented by the examining physician (11.7% of adults and 69.4% of children). CONCLUSIONS: Photophobia affects patients of all ages, and many patients are left without a specific diagnosis, indicating a significant knowledge gap among ophthalmologists and optometrists evaluating these patients.
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Lesões Encefálicas Traumáticas , Síndromes do Olho Seco , Transtornos de Enxaqueca , Adulto , Lesões Encefálicas Traumáticas/complicações , Criança , Síndromes do Olho Seco/complicações , Síndromes do Olho Seco/diagnóstico , Feminino , Humanos , Lactente , Masculino , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/terapia , Fotofobia/diagnóstico , Fotofobia/etiologia , Estudos RetrospectivosRESUMO
BACKGROUND: To determine whether the use of a tetracycline-class antibiotic is associated with an increased risk of developing pseudotumor cerebri syndrome (PTCS). METHODS: We identified patients in the University of Utah Health system who were prescribed a tetracycline-class antibiotic and determined what percentage of those individuals were subsequently diagnosed with PTCS secondary to tetracycline use. We compared this calculation to the number of patients with PTCS unrelated to tetracycline use. RESULTS: Between 2007 and 2014, a total of 960 patients in the University system between the ages of 12 and 50 were prescribed a tetracycline antibiotic. Among those, 45 were diagnosed with tetracycline-induced PTCS. We estimate the incidence of tetracycline-induced PTCS to be 63.9 per 100,000 person-years. By comparison, the incidence of idiopathic intracranial hypertension (IIH) is estimated to be less than one per 100,000 person-years (Calculated Risk Ratio = 178). CONCLUSIONS: Although a causative link between tetracycline use and pseudotumor cerebri has yet to be firmly established, our study suggests that the incidence of pseudotumor cerebri among tetracycline users is significantly higher than the incidence of IIH in the general population.
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Pseudotumor Cerebral , Adolescente , Adulto , Antibacterianos/efeitos adversos , Criança , Humanos , Incidência , Pessoa de Meia-Idade , Pseudotumor Cerebral/induzido quimicamente , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/epidemiologia , Tetraciclina/efeitos adversos , Adulto JovemRESUMO
PURPOSE: Comparisons between clinical features of tetracycline-induced pseudotumor cerebri (PTC-T) and those of idiopathic intracranial hypertension (IIH) are absent in the literature. We hypothesized that significant clinical differences between these etiologies exist and could be better understood by retrospective analysis. DESIGN: Retrospective cohort study. METHODS: We reviewed patients diagnosed with pseudotumor cerebri syndrome (PTCS) at our center and identified those who developed PTC-T after treatment with a tetracycline-class antibiotic and those with IIH. Groups were compared by demographics, body mass index, ophthalmic examination, treatment, clinical course, and visual outcomes. RESULTS: We identified 52 cases of PTC-T and 302 cases of IIH. Obesity rates were significantly different (43.8% for PTC-T vs 79.2% for IIH, P < .001). The mean age at diagnosis was younger for PTC-T (19.8 years vs 28.1 years for IIH, P < .001). Diplopia was more common with PTC-T (40.4% vs 20.1% for IIH, P = .001). The mean illness duration was shorter for PTC-T (18.3 weeks vs 62.9 weeks for IIH, P <.0001). Recurrence rates were significantly different (4.0% for PTC-T vs 16.5% for IIH, P <.001). The frequency of surgical intervention was similar. Vision loss was uncommon but occurred with similar frequency. CONCLUSION: We identified significant clinical differences but also identified important similarities between the 2 groups. There appear to be nonobese patients who develop PTC-T, discontinue the antibiotic, and never develop PTCS again. There are other patients who develop PTC-T, discontinue the antibiotic, and later develop IIH. We conclude that PTC-T represents a spectrum of disease in susceptible individuals.
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Diagnóstico por Imagem/métodos , Pseudotumor Cerebral/induzido quimicamente , Tetraciclina/efeitos adversos , Adolescente , Adulto , Antibacterianos/efeitos adversos , Índice de Massa Corporal , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Pseudotumor Cerebral/diagnóstico , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: Optic disc drusen (ODD), present in 2% of the general population, have occasionally been reported in patients with nonarteritic anterior ischemic optic neuropathy (NA-AION). The purpose of this study was to examine the prevalence of ODD in young patients with NA-AION. DESIGN: Retrospective, cross-sectional multicenter study. METHODS: All patients with NA-AION 50 years old or younger, seen in neuro-ophthalmology clinics of the international ODDS (Optic Disc Drusen Studies) Consortium between April 1, 2017, and March 31, 2019, were identified. Patients were included if ODD were diagnosed by any method, or if ODD were excluded by enhanced-depth imaging optical coherence tomography (EDI-OCT) using ODDS Consortium guidelines. NA-AION eyes with ODD were termed "ODD-AION"; those without were termed "NODD-AION". RESULTS: A total of 65 patients (127 eyes) with NA-AION were included (mean 41 years old). Of the 74 eyes with NA-AION, 51% had ODD-AION, whereas 43% of fellow eyes without NA-AION had ODD (P = .36). No significant differences were found between ODD-AION and NODD-AION eyes in terms of Snellen best-corrected VA or perimetric mean deviation. According to EDI-OCT results, 28% of eyes with NODD-AION had peripapillary hyperreflective ovoid mass-like structures (PHOMS); 7% had hyperreflective lines, whereas 54% with ODD-AION had PHOMS; and 66% had hyperreflective lines (P = .006 and P < .001, respectively). CONCLUSIONS: Most of these young NA-AION patients had ODD. This indicates that ODD may be an independent risk factor for the development of NA-AION, at least in younger patients. This study suggests ODD-AION be recognized as a novel diagnosis.
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Angiofluoresceinografia/métodos , Drusas do Disco Óptico/diagnóstico , Disco Óptico/diagnóstico por imagem , Neuropatia Óptica Isquêmica/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adolescente , Adulto , Estudos Transversais , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Drusas do Disco Óptico/complicações , Drusas do Disco Óptico/fisiopatologia , Neuropatia Óptica Isquêmica/etiologia , Neuropatia Óptica Isquêmica/fisiopatologia , Estudos Retrospectivos , Campos Visuais/fisiologia , Adulto JovemRESUMO
Objective: To describe novel clinical features of GlyRα1-IgG-positive patients. Methods: Patients with a positive serum GlyRα1-IgG were identified during a 2-year period from July 2016 to December 2018 at 2 academic centers and followed prospectively. All patients in this series were evaluated in the Neuroimmunology and Autoimmune Neurology clinics at the University of Utah or the University of Colorado. Results: Thirteen of 17 patients had phenotypes more typically associated with glutamic acid decarboxylase (GAD65) antibody syndromes, consisting of stiff-person syndrome (SPS) with parkinsonism or cerebellar signs. One patient with parkinsonism had a presentation similar to rapidly progressive multiple system atrophy with severe dysautonomia. Ten of 17 patients had various visual symptoms including visual snow, spider web-like images forming shapes and 3-dimensional images, palinopsia, photophobia, visual hallucinations, synesthesia, and intermittent diplopia. Three of 17 patients presented with primarily autoimmune epilepsy accompanied by psychiatric symptoms. Conclusions: Clinicians should consider testing for GlyR antibodies in GAD65 antibody-negative or low-positive GAD65 antibody patients with SPS-like presentations, especially in the setting of atypical features such as visual disturbances, parkinsonism, or epilepsy.
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Autoanticorpos/sangue , Imunoglobulina G/sangue , Proteínas Nucleares/sangue , Oxirredutases/sangue , Adolescente , Adulto , Idoso , Feminino , Glutamato Descarboxilase/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/sangue , Doença de Parkinson/diagnóstico , Estudos Prospectivos , Rigidez Muscular Espasmódica/sangue , Rigidez Muscular Espasmódica/diagnóstico , Síndrome , Adulto JovemRESUMO
Binocular diplopia and right hemifacial numbness developed in a 52-year-old woman after resection of a right temporal lobe glioblastoma. Based on the Parks-Bielschowsky 3-step test, she was diagnosed with a right cranial nerve (CN) IV palsy in addition to right CN V dysfunction. Iatrogenic diplopia may result from temporal lobe surgery due to the intimate relationship of CN IV and CN III to the mesial temporal lobe. In addition, injury to CN V within Meckel cave is believed to be the cause of facial numbness in some patients after temporal lobe surgery. The anatomy of the intracranial portion of CN IV is reviewed, and the etiologies of CN IV palsy are discussed.
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Isquemia Encefálica/complicações , Doenças dos Nervos Cranianos/complicações , Diplopia/etiologia , Campos Visuais/fisiologia , Isquemia Encefálica/diagnóstico , Doenças dos Nervos Cranianos/diagnóstico , Diagnóstico Diferencial , Diplopia/diagnóstico , Diplopia/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Lobo Temporal/diagnóstico por imagemRESUMO
OBJECTIVE: Migraine is associated with several important visual symptoms, during both acute attacks and headache-free intervals. The purpose of this investigation was to use validated vision-related quality of life instruments to assess the effect of migraine on visual quality of life. BACKGROUND: Many migraineurs experience visual aura, increased photophobia during and between headache attacks, and increased symptoms of dry eye with structural changes in corneal nerve endings. Other visual symptoms associated with migraine include positive persistent visual phenomenon (visual snow) and transient vision changes. Previous research looking at the disability associated with migraine has shown that patient-reported quality of life data can be useful in determining the severity of disease burden. Recent published literature has suggested that visual symptoms related to migraine represent a proportionally minor burden to patients, compared to other manifestations of migraine, but no previous studies have assessed how migraine affects visual quality of life. METHODS: In this cross-sectional quantitative survey, visual quality of life in individuals with chronic and episodic migraine was assessed using the National Eye Institute Visual Function Questionnaire-25, and the 10-item National Eye Institute Visual Function Questionnaire-25 Neuro-Ophthalmic Supplement. Overall headache severity and impact was assessed using the Migraine-specific Quality of Life Questionnaire (Version 2.1) and the Headache Impact Test-6. Participants were recruited from Headache and Neuro-ophthalmology subspecialty clinics. The target sample size was 30 participants per subgroup. The results were compared to those from disease-free controls and to results from other neuro-ophthalmic disease quality of life studies. RESULTS: Among 29 participants with chronic migraine, vision-specific quality of life scores were all statistically significantly decreased compared to disease-free controls. The National Eye Institute Visual Function Questionnaire-25 median composite score was 85 for chronic migraineurs and 96 for controls (P < .001). The 10-item National Eye Institute Visual Function Questionnaire-25 Neuro-Ophthalmic Supplement median score was 72 for chronic migraineurs and 95 for controls (P < .001). Among 37 participants with episodic migraine, vision-specific quality of life scores were also decreased compared to disease-free controls. In the episodic migraine group, decreases in the National Eye Institute Visual Function Questionnaire-25 scores were not statistically significant (median score 91, P = .01 compared to the control group), but decreases in the 10-item National Eye Institute Visual Function Questionnaire-25 Neuro-Ophthalmic Supplement remained statistically significant (median score 85, P = .003 compared to the control group). Chronic migraineurs had decreased visual quality of life scores compared to those with episodic migraines. Participants with chronic migraine had visual quality of life scores that were as poor as those previously published for patients with other neuro-ophthalmic disorders such as multiple sclerosis, myasthenia gravis, and ischemic optic neuropathy. CONCLUSIONS: Visual quality of life is significantly adversely affected in migraine sufferers. In fact, patients with chronic migraine may have visual quality of life impacts that are as significant as those associated with other common neuro-ophthalmic disorders. Future studies of the overall disease burden in patients with migraine should include an evaluation of the effects on visual functioning.
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Síndromes do Olho Seco/etiologia , Transtornos de Enxaqueca/complicações , Fotofobia/etiologia , Qualidade de Vida , Transtornos da Visão/etiologia , Adulto , Idoso , Estudos Transversais , Humanos , Pessoa de Meia-Idade , Enxaqueca com Aura/complicações , Adulto JovemRESUMO
Non-arteritic anterior ischaemic optic neuropathy (NAION) and optic neuritis (ON) may be difficult to distinguish early in their disease courses. Our goal was to determine if specific magnetic resonance imaging characteristics differentiate acute NAION from ON. Neuroradiologists, masked to diagnosis, reviewed the diffusion-weighted imaging (DWI) and post-contrast enhancement (PCE) characteristics of the optic nerve in 140 eyes. PCE and DWI signals of the optic disc alone did not discriminate between NAION and ON. After taking age and sex into consideration, only DWI and PCE of the intraorbital segment of the optic nerve differentiated the two, with ON having the increased likelihood of these findings. Isolated PCE without DWI signal at the optic disc, however, was 100% specific for NAION. This may be the most specific way to radiographically differentiate between NAION and ON in the acute setting.