在马赛克神经纤维素瘤2型中异常的底部病变
Michael H Berry1,2, David F Skanchy1, Steven M Archer1
1W. K. Kellogg Eye Center, Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan, USA.
Ophthalmic genetics
|March 11, 2025
概括
2型神经纤维素瘤 (NF2) 可以表现为儿童罕见的眼睛瘤. 这一案例突出显示了一名患有NF2.2的幼儿的眼内延伸的视神经膜脑膜瘤.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 2型神经纤维素瘤 (NF2) 是一种导致瘤的遗传疾病,通常出现在成年早期.
- 在儿科NF2病例中,眼部表现不常见.
研究的目的:
- 在被诊断为NF2.2的小孩身上报告一个不寻常的底部病变.
- 强调在儿科NF2.2.中视神经膜脑膜瘤的眼内延伸的潜力.
主要方法:
- 一个18个月大的女孩患有NF2和持续的胎儿血管系统的病例报告.
- 基因测试证实了体质NF2突变和马赛克删除.
- 在麻醉下进行的眼科检查记录了 fundus 病变和视神经的参与.
主要成果:
- 患者呈现出稳定的底部病变和日益增长的视神经病变与眼内延伸.
- 视神经的损伤导致了新血管玻璃眼和随后的核化.
- 组织病理学证实了视神经膜脑膜瘤与眼内侵袭.
结论:
- 在年轻的NF2患者中,视神经膜脑膜瘤可能会出现眼内延伸.
- 这一案例强调了在对患有NF2.2的儿童进行差异诊断时考虑眼内质量的重要性.
相关概念视频
Neural Regulation
Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
The Tumor Microenvironment
Every normal cell or tissue is embedded in a complex local environment called stroma, consisting of different cell types, a basal membrane, and blood vessels. As normal cells mutate and develop into cancer cells, their local environment also changes to allow cancer progression. The tumor microenvironment (TME) consists of a complex cellular matrix of stromal cells and the developing tumor. The cross-talk between cancer cells and surrounding stromal cells is critical to disrupt normal tissue...
Basal Lamina are the Specialized Form of ECM
The basal lamina is a thin extracellular layer that lies underneath the cells and separates them from other tissues. The three layers of the basal lamina are lamina lucida, lamina densa and lamina reticularis. The basal lamina, a mixture of glycoproteins and collagen, provides an attachment site for the epithelium, separating it from underlying connective tissue. The framework of basal lamina has other essential proteins such as laminins mesh, perlecan, entactin, and type IV collagen.
Proteins...
Proteins...
Type IV Collagen of Basal Lamina
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can exist in...
A type IV collagen molecule has six alpha chains which can exist in...


