因内埃尔德海姆-切斯特病引起的眼前和眼
Elke Schipani Bailey1, Carlee I Oakley1, Kelsey M Smith1
1Department of Neurology, Mayo Clinic, Rochester, MN, USA.
The Neurohospitalist
|July 13, 2023
概括
埃尔德海姆-切斯特病是一种罕见的囊细胞性疾病,由于大脑和轨道质量,可能会出现神经症状,如临床失眠,亡和眼睛衰竭. 诊断需要综合实验室,成像,病理学和遗传检测.
科学领域:
- 神经学 神经学
- 在瘤学瘤学.
- 放射学 放射学是一门学科.
背景情况:
- 埃尔德海姆 - 切斯特病 (ECD) 是一种罕见的非朗格汉斯细胞囊炎.
- 神经系统的参与是常见的,可以表现为各种症状.
研究的目的:
- 描述一个出现神经和眼科症状的埃德海姆-切斯特病病例.
- 要突出诊断挑战和需要ECD的多学科方法.
主要方法:
- 一个82岁的女性病例介绍,她患有临床失眠,心肌梗塞,亡和眼睛衰竭.
- 使用MRI,核医学骨扫描,PET CT,心脏MRI,骨活检和无血细胞DNA测试.
- 差异性诊断包括颗粒状细胞过程,感染,粉样化症,IgG4相关疾病和淋巴瘤.
主要成果:
- 核磁共振扫描显示了压缩大脑髓的外轴质量和双边逆轨道质量.
- 图像检查和活检发现可疑的质细胞瘤.
- 通过纤维胞透和BRAF V600E突变检测证实了诊断.
结论:
- 电脑心脏病可以出现显著的神经和眼科症状.
- 综合诊断方法对于识别这种罕见的囊细胞性疾病至关重要.
- 早期诊断和管理对于患有埃尔德海姆-切斯特病的患者至关重要.
相关概念视频
Prosopagnosia
210
Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
210
Glaucoma: Overview
623
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
623
Photoreceptors and Visual Pathways
6.1K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
6.1K
Angle Closure Glaucoma: Treatment
574
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
574
Chronic Kidney Disease II: Clinical Manifestations
35
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
35
Endocarditis II: Clinical Features of Infective Endocarditis
14
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
14


