在一组18q染色体异常中的成像发现和MRI模式
Prateek Malik1, Helen Branson1, Grace Yoon2
1From the Department of Diagnostic Imaging (P.M., H.B., M.S., S.B., P.K.), The Hospital for Sick Children, Toronto, Canada.
AJNR. American journal of neuroradiology
|May 30, 2024
概括
染色体18q异常显示出不同的MRI模式. 这些模式与大脑髓化发展和儿科患者的特定结构变化相关.
科学领域:
- 儿科放射学 儿科放射学
- 神经成像是一种神经成像.
- 遗传学 是一个遗传学.
背景情况:
- 染色体18q异常具有复杂的临床谱.
- 了解它们的神经成像特征对于诊断和管理至关重要.
研究的目的:
- 系统地分析患有18q异常的儿科患者的磁共振 (MR) 图像特征.
- 识别与这些遗传条件相关的可识别的白质和结构模式.
主要方法:
- 儿科患者被证实18q异常的回顾性队列研究 (2000-2022年).
- 包括一个年龄和性别匹配的对照队列.
- 分析了50项MRI成像研究,重点关注髓化和结构性大脑发育.
主要成果:
- 分析了36例患有18q异常的儿科病例.
- 70%的病例表现出延迟的髓化.
- 确定了三种不同的MR成像模式 (类似Pelizaeus-Merzbacher疾病的,中间的,被洗掉的),与年龄和髓化相关.
- 环染色体18显示了最显著的髓化滞后和白质变化.
- 三重症18与较小的子和小脑尺寸有关.
结论:
- 核磁共振成像显示了18q染色体异常中可识别的模式,这些异常与大脑髓化相关.
- 结果表明白质异常的连续性,环染色体18表现出更严重的变化.
- 三重症18的特点是,小脑和小脑中结构异常的患病率较高.
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