长期疾病过程的Pontocerebellar低成形10型的疾病过程
Serhat Guler1, Ayca Dilruba Aslanger2, Turkan Uygur Sahin3
1Cerrahpasa Medical Faculty, Department of Pediatric Neurology, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Pediatric neurology
|June 26, 2024
概括
10型脑小细胞低成形 (PCH10) 呈现出渐进的脑缩和神经衰退. 早期识别是关键,因为像上肢动这样的症状随着时间的推移而演变.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 10型脑小细胞低成形 (PCH10) 是一种严重的遗传性疾病.
- 它是由CLP1基因的突变引起的.
- 它的特点是大脑异常,小头,智力和身体残疾以及性.
研究的目的:
- 监测PCH10患者表型和神经特征的演变.
- 记录随着时间的推移,运动功能,发育和大脑结构的变化.
主要方法:
- 对10名PCH10.0患者的随访研究.
- 定期评估包括表型,生长,运动功能,发育测试,性 (修改的阿什沃思尺度),功能独立性,EEG和连续大脑MRI.
- 改变被系统地记录下来.
主要成果:
- 平均随访时间为2.83年.
- 显著的上肢高血压注意到.
- 运动里程碑,如没有支的坐着,往往会丢失;只有一个病人说了几句话.
- 核磁共振扫描显示了渐进式的发现:心室扩大 (10/10),体稀薄 (10/10),皮质缩 (7/10),低髓缩 (6/10),子缩 (4/10) 和小脑缩 (2/10).
结论:
- 在PCH10中通过成像显示了渐进性脑和小脑缩.
- 迅速识别至关重要,有助于形特征和明显的上肢性.
- 表型和神经学发现随着时间的推移呈现微妙的变化.
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