埃尔德海姆 - 切斯特病与肌和肌肉的参与:报告的一种罕见的呈现
Mahshid Golagha1, Fatemeh Dehghani Firouzabadi2, Corina Millo2
1Urologic Oncology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, USA.
Radiology case reports
|March 1, 2024
概括
埃尔德海姆-切斯特病 (ECD) 很少影响肌和骨肌肉. 本综述强调了两个涉及阿基里斯和大腿肌肉的ECD病例,强调了需要更广泛的诊断考虑的必要性.
科学领域:
- 囊细胞性疾病 囊细胞性疾病
- 罕见疾病 罕见疾病
- 肌肉骨系统 运动器官系统
背景情况:
- 埃尔德海姆-切斯特病 (ECD) 是一种罕见的多系统性囊细胞性疾病.
- 典型的ECD表现包括长骨,心血管结构,逆和中枢神经系统.
- 在ECD中,肌和骨肌肉的参与很少被报告.
研究的目的:
- 介绍两例罕见的影响骨肌肉和肌的埃尔德海姆-切斯特病.
- 提高人们对这些不寻常的ECD表现的认识.
- 通过识别这些表现来帮助早期诊断.
主要方法:
- 对两名被诊断患有埃尔德海姆-切斯特病的成年男性患者的病例综述.
- 使用18F-FDG PET/CT成像来识别受影响的组织.
- 分析了放射和临床数据.
主要成果:
- 案例1:ECD涉及先前患有骨和脑垂体疾病的患者的阿基里斯肌和绑架者幻觉肌肉.
- 案例二:心血管和后部受影响的患者的ECD表现为大腿肌肉 (闭塞肌,胸肌,四足肌) 中的透性质.
- 这两种病例都在18F-FDG PET/CT上表现出特有的高代谢活性.
结论:
- 骨肌肉和阿基里斯肌的干扰是埃尔德海姆-切斯特病的罕见但公认的表现.
- 由于ECD的罕见性和非特异性症状,诊断延迟很常见.
- 在患有肌肉炎,肌病或骨疼痛以及其他全身性问题的患者中考虑ECD.
相关概念视频
Myasthenia Gravis: Diagnostic Tests
831
Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
831
Disorders of the Skeletal Muscle
946
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
946
Myasthenia Gravis: Overview and Treatment
1.4K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.4K
Inflammatory Bowel Disease II: Crohn's Disease
244
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
244
Chronic Bowel Disorders: Introduction
450
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
450


