癫痫的概况及其特点在儿童神经皮肤综合征

IF 0.8 Q4 CLINICAL NEUROLOGY Journal of Neurosciences in Rural Practice Pub Date : 2023-10-19 DOI:10.25259/jnrp_510_2023
Lokesh Saini, Swetlana Mukherjee, Pradeep Kumar Gunasekaran, Arushi Gahlot Saini, Chirag Ahuja, Indar Kumar Sharawat, Rajni Sharma, Ankita Bhati, Renu Suthar, Jitendra Kumar Sahu, Naveen Sankhyan
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引用次数: 0

摘要

目的:神经皮肤综合征的癫痫发作是可变的。我们的目的是确定癫痫的特点与神经皮肤综合征的儿童。材料和方法:在一家三级儿科医院进行为期18个月的横断面研究,包括1至15岁的神经皮肤综合征儿童,使用2017年国际抗癫痫联盟分类。结果:119例神经皮肤综合征患儿中,94例(79%)有癫痫。在8例神经纤维瘤病患儿中,1例伴有癫痫,5例(62.5%)有全身性运动性强直阵挛发作,1例(12.5%)有全身性运动性癫痫痉挛,1例(12.5%)有全身性运动自动性,1例(12.5%)有局灶性癫痫发作。69例结节性硬化症合并癫痫患儿中,30例(43.5%)有全身性运动性癫痫痉挛,23例(33.3%)有局灶性癫痫发作,9例(13.0%)有全身性运动性强直-阵挛性癫痫发作。在14例伴有斯特奇-韦伯综合征的癫痫患儿中,13例(92.8%)为局灶性癫痫发作,1例(7.2%)为全身性运动强直性癫痫发作。癫痫与智力障碍(P = 0.02)和行为问题(P = 0.00)有统计学意义的关联。结论:分析神经皮肤综合征儿童的癫痫发作对于设计靶向特异性治疗至关重要,因为每种综合征的癫痫发生在导致高兴奋状态的分子通路上是不同的。需要进一步的多中心研究来更好地了解神经皮肤综合征的癫痫概况。
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The profile of epilepsy and its characteristics in children with neurocutaneous syndromes
Objectives: The profile of seizures in neurocutaneous syndromes is variable. We aimed to define the characteristics of epilepsy in children with neurocutaneous syndromes. Materials and Methods: Cross-sectional study over 18 months at a tertiary care pediatric hospital, including children with neurocutaneous syndromes aged between 1 and 15 years, using the 2017-International League Against Epilepsy classification. Results: In 119 children with neurocutaneous syndromes, 94 (79%) had epilepsy. In eight children with neurofibromatosis one with epilepsy, 5 (62.5%) had generalized motor tonic-clonic seizures, 1 (12.5%) had generalized motor epileptic spasms, 1 (12.5%) had generalized motor automatism, and 1 (12.5%) had a focal seizure. In 69 children with tuberous sclerosis complex with epilepsy, 30 (43.5%) had generalized motor epileptic spasms, 23 (33.3%) had focal seizures, and nine (13.0%) had generalized motor tonic-clonic seizures. In 14 children with Sturge–Weber syndrome with epilepsy, 13 (92.8%) had focal seizures, and 1 (7.2%) had generalized motor tonic seizures. Statistically significant associations were found between epilepsy and intellectual disability ( P = 0.02) and behavioral problems ( P = 0.00). Conclusion: Profiling seizures in children with neurocutaneous syndromes are paramount in devising target-specific treatments as the epileptogenesis in each syndrome differs in the molecular pathways leading to the hyperexcitability state. Further multicentric studies are required to unravel better insights into the epilepsy profile of neurocutaneous syndromes.
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CiteScore
2.10
自引率
0.00%
发文量
129
审稿时长
22 weeks
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