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Updated: Feb 2, 2026

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由于循环素依赖的Kinase-Like 5缺乏症导致的发育和脑病:跨性别差异的单一中心经验

Alfiya Fasaludeen¹, Ramshekhar N Menon¹, Manna Jose¹

¹R. Madhavan Nayar Center for Comprehensive Epilepsy Care (RMNC), Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), Thiruvananthapuram, Kerala, India.

Pediatric neurology

|January 31, 2026

概括

循环素依赖性酶类5缺乏症 (CDD) 在儿童中导致严重的和发育问题. 这项研究突出了印度患者的电临床特征和结果,发现了耐火性和缺陷,而不论性别.

科学领域:

神经学神经学
遗传学遗传学是一个
儿科儿科儿科

背景情况:

循环素依赖性酶类5缺乏障碍 (CDD) 是一种罕见的X相关疾病,导致早期发作的脑病变和严重的发育迟缓.
有限的研究存在于CDD的电临床特征,结果,性别差异和神经成像,特别是在印度人口中.

研究的目的:

描述印度患有CDD的患者的电临床综合征,发育特征,放射学发现和结果.
为了比较患有CDD的男性和女性患者之间的这些因素.

主要方法:

一项基于医院的观察性研究使用了儿童发育性和性脑病变的登记册进行.
收集的数据包括人口统计数据,发作特征,综合征,治疗方法,EEG,发育评估,遗传数据,MRI发现和患者结局.

主要成果:

包括12名患有CDKL5变异的患者 (7名女性). 发作开始时的平均年龄为5.95个月,男性的平均年龄更高. 性发作和性是常见的,伦诺克斯-加斯托和韦斯特综合征是常见的.
在几位患者的MRI上观察到大脑体积损失和白质病变. 严重的发育缺陷,雷特类表型和皮层视觉障碍是普遍存在的.
里程碑的回归和重复的运动行为在女性中更为常见.

结论:

在儿童中,CDD导致耐火性和严重的发育缺陷.
这些结果不论患者的性别,遗传变异类型或接受的治疗都是一致的.

关键词:

在CDKL5缺陷障碍中.循环素依赖的酶类5 5 发展发展发展发展发展发育性和性脑病变,发育性和性脑病变.雷特状综合征 (Rett-like syndrome) 是一种类似于雷特状综合征的疾病.

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