结核性硬化综合体的中枢神经系统表现:卡塔尔的一个单一中心的经验
Munira Aden1, Mahmoud O Fawzi1, Debra Prosser1
1From the Department of Pediatrics (Aden, Fawzi), Division of Neurology; from the Department of Pathology (Prosser), Division of Pathology Genetics; from the Child and Adolescent Mental Health Services (Ather); from the Department of Anatomical imaging (Raja, Ederies), Division of Neuroradiology; from the Department of Surgery (Al-Kharazi), Division of Neurosurgery; and from the Department of Pediatrics (Maaz), Division of Hematology/Oncology, Sidra Medicine, Doha, Qatar.
儿童的结核性硬化综合体 (TSC) 经常出现发作和发育迟缓,几乎所有儿童在MRI上都显示出大脑异常. 早期诊断和多学科护理对于管理TSC神经症状至关重要.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 结核性硬化综合体 (TSC) 是一种具有多系统表现的遗传性疾病,特别影响中枢神经系统 (CNS).
- 了解TSC相关的中枢神经系统问题的临床和放射学范围对于及时诊断和管理至关重要.
研究的目的:
- 为了将中枢神经系统表现的临床和放射学发现与儿童TSC患者的相关性.
- 在一组被诊断患有TSC的儿童中识别常见的神经学表现和神经成像特征.
主要方法:
- 从2003年至2021年,在Sidra医学诊所诊断出TSC的儿科患者 (<18岁) 的回顾性研究.
- 审查了临床数据和神经成像 (MRI) 发现.
- 的严重程度使用童年重度评分 (E-CHESS) 工具进行评估.
主要成果:
- 分析了38名患有TSC的儿科患者,86%患有TSC2基因突变.
- 常见的表现包括发作 (79%),皮瘤 (26%) 和发育迟缓 (13%).
- 在所有患者中,MRI检测出皮层结核,97%的患者中发现了下垂体结核,21%的患者中发现了下垂体巨细胞星瘤. 30名儿童患上了,其中21名儿童的E-CHESS得分不佳. 自闭症谱系障碍和ADHD分别在13名和12名儿童中被诊断出.
结论:
- 在儿童中,TSC呈现出各种神经表现和特征的神经成像发现.
- 有效的管理需要多学科的方法和持续的研究,以改善受影响个人的生活质量.
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