optic neuropathy

视神经病变
  • 文章类型: Case Reports
    神经梅毒,梅毒螺旋体传播到中枢神经系统的一种罕见表现,是关键的鉴别诊断,因为如果不治疗,其潜在的严重神经系统影响。我们介绍了一例37岁的妇女,她抱怨双侧视力丧失和头痛,最初是由于特发性颅内高压和不受控制的糖尿病。综合评估最终导致神经梅毒诊断。眼科检查显示糖尿病视网膜病变的多因素视觉症状以及神经梅毒。在诊断时迅速开始治疗并导致视觉症状的改善。这个案例强调了在适当年龄范围内进行梅毒筛查的重要性,即使在低流行地区。将神经梅毒视为潜在的诊断可能会影响患者的预后,并强调需要继续保持警惕以识别该疾病。
    Neurosyphilis, a rare manifestation of Treponema pallidum spreading into the central nervous system, is a critical differential diagnosis due to its potentially severe neurologic effects if left untreated. We present a case of a 37-year-old woman who complained of bilateral vision loss and headaches originally concerning for idiopathic intracranial hypertension and uncontrolled diabetes. Comprehensive evaluations eventually led to a neurosyphilis diagnosis. Ophthalmologic examination revealed multifactorial visual symptoms with diabetic retinopathy contributing alongside neurosyphilis. Treatment was started promptly at the time of diagnosis and resulted in improvement in visual symptoms. This case emphasizes the importance of syphilis screening in appropriate age ranges, even in low-prevalence areas. Recognition of neurosyphilis as a potential diagnosis can impact patient outcomes and highlights the need for continued vigilance to identify the disease.
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  • 文章类型: Journal Article
    背景:在营养不良的情况下,避免性/限制性食物摄入障碍(ARFID)患者通常会出现体重减轻或生长迟缓。然而,ARFID患者可以表现出微量营养素缺乏而不会出现体重减轻.在ARFID患者中,临床医生应警惕微量营养素缺乏及其表现.
    方法:我们报告了一个12岁女孩的ARFID独特病例,他们出现了微量营养素缺乏症,并出现急性视力丧失,先前有夜视障碍史。眼科检查显示干眼症和双侧视神经病变。调查显示严重的维生素A和叶酸缺乏,这解释了她的临床发现。此外,她还被发现含有低维生素B12,铜,和维生素D水平。她从小就有选择性饮食的历史,饮食主要由碳水化合物组成,没有经常摄入肉,乳制品,水果和蔬菜。这不是由体重或身体形象问题驱动的。通过适当的维生素替代和持续的多学科护理,患者的症状明显改善。
    结论:本报告描述了一名出现视觉不适的ARFID患者。在这种情况下,选择性进食行为导致眼干和视神经病变.微量营养素缺乏在发达国家并不常见。当怀疑这些缺陷时,饮食失调,比如ARFID,应该考虑。同样,照顾包括ARFID在内的限制性进食障碍患者的临床医师应熟悉各种微量营养素缺乏的临床表现,并考虑在临床需要时对微量营养素缺乏进行评估和治疗.
    BACKGROUND: Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However, patients with ARFID can present with micronutrient deficiencies without weight loss. In patients with ARFID, clinicians should be vigilant for micronutrient deficiencies and their presentations.
    METHODS: We report a unique case of ARFID in a twelve-year-old girl, who developed micronutrient deficiencies and presented with acute visual loss with a preceding history of impaired night vision. Ophthalmic examination revealed xerophthalmia and bilateral optic neuropathy. Investigations showed severe Vitamin A and folate deficiencies which accounted for her clinical findings. In addition, she was also found to have low Vitamin B12, copper, and Vitamin D levels. She had a history of selective eating from a young age with a diet consisting largely of carbohydrates, with no regular intake of meat, dairy, fruit and vegetables. This was not driven by weight or body image concerns. The patient\'s symptoms improved significantly with appropriate vitamin replacement and continued multidisciplinary care.
    CONCLUSIONS: This report describes a patient with ARFID presenting with visual complaints. In this case, the selective eating behaviours resulted in xeropthalmia and optic neuropathy. Micronutrient deficiencies are uncommon in developed countries. When these deficiencies are suspected, eating disorders, such as ARFID, should be considered. Similarly, clinicians caring for patients with restrictive eating disorders including ARFID should be familiar with the clinical presentations of various micronutrient deficiencies and consider evaluation and treatment for micronutrient deficiencies when clinically indicated.
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  • 文章类型: Case Reports
    背景:棘球蚴病,通常被称为包虫病,是由细粒棘球蚴引起的人畜共患感染。眼眶区包虫囊肿的发生并不常见,占所有报告的包虫病例的不到1%。本报告详细介绍了眼眶区域肌肉内包虫囊肿导致压迫性视神经病变的独特病例。
    方法:一名来自喀布尔的22岁男性,阿富汗的左眼有五个月的进行性眼球突出史,与过去三周视力逐渐下降有关。左眼表现出向上的反乌托邦,眼运动受限,轻度结膜注射,和化学.通过影像学和组织病理学检查获得诊断。治疗包括手术切除囊肿和延长阿苯达唑治疗。术后病程显示患者病情明显改善,视力恢复。
    结论:尽管它很少,这个案例强调了医生对包虫病的认识和知识的重要性,尤其是那些在流行地区工作的人。它强调了在眼眶肿块的鉴别诊断中包括包虫病的重要性,特别是在流行地区。
    BACKGROUND: Echinococcosis, commonly known as hydatid disease, is a zoonotic infection resulting from the tapeworm Echinococcus granulosus. The occurrence of hydatid cysts in the orbital region is uncommon, representing less than 1% of all reported hydatid cases. This report details a unique case of an intramuscular hydatid cyst in the orbital region that led to compressive optic neuropathy.
    METHODS: A 22-year-old male from Kabul, Afghanistan presented with a five-month history of progressive proptosis in his left eye, associated with a gradual decrease in vision over the past three weeks. The left eye exhibited upward globe dystopia, ocular motility limitation, mild conjunctival injection, and chemosis. Diagnosis was achieved through imaging and histopathological examination. Treatment involves surgical removal of the cyst and prolonged albendazole therapy. The postoperative course showed significant improvement in the patient\'s condition and restoration of his vision.
    CONCLUSIONS: Despite its rarity, this case underscores the importance of awareness and knowledge of hydatid disease among physicians, especially those working in endemic areas. It emphasizes the importance of including hydatid disease in the differential diagnosis of orbital masses, particularly in endemic regions.
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  • 文章类型: Case Reports
    进行性核上性麻痹(PSP),也被称为斯蒂尔-理查森-奥尔谢夫斯基综合征,是一种罕见的神经退行性疾病,其特征是各种运动和神经眼科症状。我们介绍了一个73岁的男性患者,有2型糖尿病和高血压病史,为步态障碍咨询的人,四肢颤抖,难以控制共轭凝视。体检时,发现与PSP一致,包括低omimia,肌肉僵硬,异常动作。帕金森病的最初误诊和随后的左旋多巴给药突出了在复杂神经系统疾病中准确诊断的重要性。该临床病例强调需要对神经眼科症状和体征进行彻底评估,以确保采用适当的治疗方法并提高患者的生活质量。
    Progressive Supranuclear Palsy (PSP), also known as Steele-Richardson-Olszewski syndrome, is a rare neurodegenerative disease characterized by a variety of motor and neuro-ophthalmological symptoms. We present the case of a 73-year-old male patient with a history of type 2 diabetes and high blood pressure, who consulted for gait disorders, tremors in the extremities, and difficulty controlling conjugate gaze. During physical examination, findings consistent with PSP were noted, including hypomimia, muscle rigidity, and abnormal movements. The initial misdiagnosis of Parkinson\'s disease and subsequent administration of levodopa highlight the importance of accurate diagnosis in complex neurological conditions. This clinical case highlights the need for a thorough evaluation of neuro-ophthalmological symptoms and signs to ensure an appropriate therapeutic approach and improve the quality of life of patients.
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  • 文章类型: Case Reports
    大麻是美国最常用的联邦非法药物。急性使用大麻与一些心血管和神经心理学的不良影响有关。滥用大麻的眼部并发症非常罕见。在这里,我们报道了吸食大麻后双侧视神经病变的首例报道.一名28岁的男子在吸食大麻8小时后突然出现双侧下视野模糊,来到急诊室。他的最佳矫正视力在右眼为20/30,在左眼为20/20。眼底检查显示,双眼视盘边缘模糊,右眼有裂片出血。检测到双侧下视野缺损,右侧严重程度更高。光学相干断层扫描证实了双侧视神经病变的诊断。尿液药物筛选试验对四氢大麻酚呈阳性,这是大麻素的主要活性成分。其余神经系统检查及影像学检查均正常。患者接受静脉注射皮质类固醇和抗血小板药物治疗。他的双眼视力恢复到20/20,在6个月的随访中完全解决了现场缺陷。滥用大麻后的视神经病变是不寻常的。我们报告的结果强调需要意识到大麻相关的视神经病变是大麻中毒的眼部不良反应的一部分。
    Marijuana is the most commonly used federally illegal drug in the United States. Acute marijuana use is associated with several cardiovascular and neuropsychological adverse effects. Ocular complications of marijuana abuse are very rare. Herein, we present the first report of bilateral optic neuropathy following smoking marijuana. A 28-year-old man presented to the emergency room with sudden onset of bilateral blurring of the inferior visual field 8 h after smoking marijuana. His best-corrected visual acuity was 20/30 in the right eye and 20/20 in the left eye. Fundus examination revealed blurring of the optic disc margins in both eyes and a splinter haemorrhage in the right eye. Bilateral inferior visual field defects were detected with greater severity on the right side. Optical coherence tomography confirmed the diagnosis of bilateral optic neuropathy. A urine drug screen test was positive for tetrahydrocannabinol, which is the primary active ingredient in cannabinoids. The rest of the neurological examination and imaging were normal. The patient was treated with intravenous corticosteroids and an anti-platelet drug. His vision recovered to 20/20 in both eyes, with complete resolution of the field defect over a follow-up of 6 months. Optic neuropathy following marijuana abuse is unusual. The results of our report emphasise the need for awareness of marijuana-associated optic neuropathy as part of ocular adverse effects of marijuana intoxication.
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  • 文章类型: Journal Article
    背景:迟发性视神经病变引起的视力障碍是一种罕见的手术并发症。在治疗的动脉瘤壁中诱导的炎症反应是这种病理生理学的已知机制。作者描述了一个严重和进行性视神经病变导致神经元变性和严重视觉功能障碍的病例。
    方法:一名42岁女性,有手术夹闭手术史,表现为突突旁动脉瘤复发。尽管患者没有意识到任何视觉功能障碍,术前眼科检查显示左眼轻度下正交视。线圈栓塞程序是顺利的;然而,第二天,患者出现进行性视力障碍,尽管开始了类固醇治疗,但情况恶化了。眼科检查显示视力严重下降,视野进一步恶化。磁共振成像显示与治疗动脉瘤相邻的左视神经明显肿胀和水肿。尽管持续的类固醇治疗,由于随后的视神经变性,患者的视功能没有很好地恢复。
    结论:腔内手术后的视神经病变可导致严重的视觉功能障碍。谨慎的管理至关重要,特别是在治疗有症状的突突旁动脉瘤时,即使症状仅在详细检查时明显。
    BACKGROUND: Visual impairment due to delayed optic neuropathy is a rare complication of the endovascular treatment of paraclinoid aneurysms. An inflammatory response induced in the treated aneurysm wall is a known mechanism underlying this pathophysiology. The authors describe a case with severe and progressive optic neuropathy leading to neuronal degeneration and severe visual dysfunction.
    METHODS: A 42-year-old female with a history of surgical clipping for a paraclinoid aneurysm presented with a recurrence. Although the patient was unaware of any visual dysfunction, a preoperative ophthalmological examination revealed mild inferior quadrantanopia in the left eye. The coil embolization procedure was uneventful; however, the following day, the patient experienced progressive visual impairment, which worsened despite the initiation of steroid therapy. Ophthalmological examination revealed a severe decrease in visual acuity and further deterioration of the visual field. Magnetic resonance imaging showed remarkable swelling and edema of the left optic nerve adjacent to the treated aneurysm. Despite continued steroid therapy, the patient\'s visual function did not recover well due to subsequent optic nerve degeneration.
    CONCLUSIONS: Optic neuropathy after endovascular procedures can lead to severe visual dysfunction. Careful management is essential, particularly when treating a symptomatic paraclinoid aneurysm, even if symptoms are only apparent on detailed examination.
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  • 文章类型: Case Reports
    急性胰腺炎是一种通常导致与全身性炎症反应相关的多器官功能障碍的胰腺炎性疾病。视神经病变是一种极为罕见的眼部表现,尤其是在酒精性胰腺炎中,最可能是由于缺血性并发症,并且是一种威胁视力的疾病,必须及早发现,因为它可能导致永久性视力丧失。在这个案例报告中,一位51岁的女士,偶尔的酒精消费者,胆囊切除术后的状态,表现为持续4天的严重腹痛,并伴有多次呕吐。她被诊断为中度至重度急性胰腺炎,最初需要离子型支持。她的胃肠道症状有所改善。然而,在患病的第11天,她因视力模糊而离开了眶周疼痛和流泪。随后,眼科评估显示视盘水肿,视力轻度下降,但视野和色觉正常。因此,诊断为左视神经病变,开始逐渐减量大剂量口服类固醇.4周和12周后的随访显示,视盘水肿和其他症状显着改善。因此,尽管视神经病变在急性胰腺炎中很少报道,它必须在临床实践中与Purtscher样视网膜病变一起考虑,表现为急性胰腺炎的眼部症状。
    Acute pancreatitis is a pancreatic inflammatory disorder that often leads to multi-organ dysfunction associated with systemic inflammatory response. Optic neuropathy is an extremely rare ocular manifestation that can occur especially in alcoholic pancreatitis most likely due to ischemic complications and is a vision-threatening condition that has to be recognized early as it can cause permanent vision loss. In this case report, a 51-year-old lady, an occasional consumer of alcohol, post-cholecystectomy status, presented with severe abdominal pain of four days\' duration associated with multiple episodes of vomiting. She was diagnosed with moderate to severe acute pancreatitis and needed ionotropic support initially. She had improvement in gastrointestinal symptoms. However, she had left peri-orbital pain and lacrimation with blurring of vision on Day 11 of illness. Subsequently, an ophthalmic evaluation revealed optic disc oedema and a mild decrease in visual acuity but normal visual field and colour vision. Therefore, left optic neuropathy was diagnosed and a high-dose oral steroid was started on a tapering dose. Follow-ups after four and 12 weeks showed significant improvement in optic disc oedema and other symptoms. Therefore, though optic neuropathy is rarely reported in acute pancreatitis, it has to be considered in clinical practice along with Purtscher-like retinopathy, which presents with ocular symptoms in acute pancreatitis.
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  • 文章类型: Case Reports
    威尔逊病(WD)是一种罕见的遗传性疾病,临床表现广泛,包括肝,神经学,和精神症状。迄今为止,有5例(包括我们的病例)是由WD引起的视神经病变。
    一名15岁的女性因神经系统症状出现在急诊科。患者出现意识模糊,但生命体征保持稳定,体检都正常。腹部超声和轴向脑计算机断层扫描(CT)扫描均正常。患者的神经系统状况和实验室检查结果提示诊断为WD。2天后,患者经历了突然的双侧失明。病人的病情迅速恶化,随后被转诊至ICU。
    这种疾病的发病率因种族而异,在东亚人群中患病率较高。由于症状的不同表现,诊断可能具有挑战性,但对于出现急性肝炎和/或神经系统异常的患者,将WD作为鉴别诊断是很重要的.
    应教育医疗保健专业人员了解WD的各种临床表现,以帮助早期识别和诊断疾病。
    UNASSIGNED: Wilson disease (WD) is a rare genetic disorder with a wide range of clinical manifestations, including hepatic, neurologic, and psychiatric symptoms. To date, there have been five cases (including our case) representing optic neuropathy caused by WD.
    UNASSIGNED: A 15-year-old female presented to the emergency department with neurological symptoms. The patient exhibited confusion but maintained stable vital signs, and physical examinations were all normal. Abdominal ultrasound and axial brain computed tomography (CT) scan were both normal. The patient\'s neurological condition and laboratory test results suggested diagnoses of WD. After 2 days, the patient experienced sudden bilateral blindness. The patient\'s condition deteriorated rapidly, and was subsequently referred to the ICU.
    UNASSIGNED: The incidence of the disease varies by ethnicity, with a higher prevalence in Eastern Asian populations. Diagnosis can be challenging due to the diverse presentation of symptoms, but it is important to consider WD as a differential diagnosis in patients presenting with acute hepatitis and/or neurologic abnormalities.
    UNASSIGNED: Healthcare professionals should be educated about the diverse clinical manifestations of WD to help in early recognition and diagnosis of the disease.
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  • 文章类型: Review
    Wilson病(WD)是铜代谢的常染色体隐性遗传疾病。WD的临床表现复杂多变,Kayser-Fleischer环(K-F环)和向日葵白内障是最常见的眼部发现。视力障碍在WD患者中很少见。我们报告了一名17岁女性,患有与WD相关的双侧视神经萎缩,并总结了先前报道的WD视神经病变病例的临床特征。临床医生应该意识到WD是视神经病变的罕见原因,并且可能需要认识和筛查WD患者的视神经病变。
    Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical manifestations of WD are complex and variable, with Kayser-Fleischer ring (K-F ring) and the sunflower cataract being the most common ocular findings. Visual impairment is rare in patients with WD. We report the case of a 17-year-old female with bilateral optic atrophy associated with WD and summarize the clinical features of previously reported cases of optic neuropathy in WD, Clinicians should be aware that WD is a rare cause of optic neuropathy and that optic neuropathy in patients with WD may need to be recognized and screened.
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  • 文章类型: Case Reports
    Leber的遗传性视神经病变(LHON)是遗传性视神经病变之一,主要由三种常见的线粒体脱氧核糖核酸(DNA)致病变异引起(m.11778G>A,m.3460G>A,和m.14484T>C)。这些致病变异占LHON病例的90%,罕见的致病变异占其余病例。我们报道了日本首例具有m.13051G>A致病变体的LHON,这是LHON的一种罕见的原发致病变种。一名24岁的女性在几个月内双眼出现亚急性视力丧失。右眼(OD)的最佳矫正视力(BCVA)为6/120,左眼(OS)为6/7.5。未检测到相对传入瞳孔缺损。汉弗莱视野测试显示中央暗点OD和颞侧中央暗点OS。眼底检查显示存在浅色视盘OD和视盘肿胀,伴有乳头状微血管病变OS。轨道磁共振成像未见异常发现。由于线粒体DNA基因检测显示m.13051G>A致病变异,患者被诊断为LHON。随后,她的每只眼睛的BCVA恶化到6/600,随后是近乎高原般的进展。这种突变主要在欧洲报道,但尚未在亚洲地区得到证实。这种情况还表明,在未检测到三种主要致病变体之一的情况下,检查整个线粒体DNA基因的致病变体的重要性。
    Leber\'s hereditary optic neuropathy (LHON) is one of the hereditary optic neuropathies and is principally caused by three frequent mitochondria deoxyribonucleic acid (DNA) pathogenic variants (m.11778 G>A, m.3460 G>A, and m.14484T>C). These pathogenic variants account for 90% of LHON cases, with rare pathogenic variants accounting for the remaining cases. We report the first Japanese case of LHON with the m.13051 G>A pathogenic variant, which is a rare primary pathogenic variant of LHON. A 24-year-old woman developed subacute visual loss in both eyes over several months. The best corrected visual acuity (BCVA) was 6/120 in her right eye (OD) and 6/7.5 in her left eye (OS). A relative afferent pupillary defect was not detected. Humphrey visual field testing revealed a central scotoma OD and a temporal paracentral scotoma OS. Fundus examination showed the presence of a pale optic disc OD and optic disc swelling with peripapillary microangiopathy OS. Orbital magnetic resonance imaging showed no abnormal findings. As the mitochondrial DNA gene testing demonstrated the m.13051 G>A pathogenic variant, the patient was diagnosed with LHON. Subsequently, her BCVA worsened to 6/600 in each eye, followed by a nearly plateau-like progression thereafter. This mutation has been primarily reported in Europe but has not yet been confirmed in the Asian region. This case also indicates the importance of examining the whole mitochondrial DNA gene for pathogenic variants in cases where one of the three major pathogenic variants has not been not detected.
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