PDF(Pubmed)
Abstract：
UNASSIGNED: The profile of seizures in neurocutaneous syndromes is variable. We aimed to define the characteristics of epilepsy in children with neurocutaneous syndromes.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.
摘要：
■神经皮肤综合征的癫痫发作情况是可变的。我们旨在定义患有神经皮肤综合征的儿童癫痫的特征。
■在三级护理儿科医院进行的为期18个月的横断面研究，包括年龄在1至15岁之间的神经皮肤综合征儿童，使用2017年国际抗癫痫联盟分类。
■在119名患有神经皮肤综合征的儿童中，94(79%)有癫痫。在八个患有神经纤维瘤病的儿童中，一个患有癫痫，5例（62.5%）有广泛性运动性强直阵挛性癫痫发作，1例（12.5％）患有全身性运动型癫痫痉挛，1(12.5%)有广义运动自动机，1例(12.5%)出现局灶性癫痫发作.69例结节性硬化症合并癫痫患儿，30例（43.5%）有广泛性运动型癫痫痉挛，23人(33.3%)有局灶性癫痫发作，9例(13.0%)患有全身性运动性强直阵挛性癫痫发作。在14名患有癫痫的Sturge-Weber综合征的儿童中，13人（92.8%）有局灶性癫痫发作，1例(7.2%)有广泛性运动性强直性癫痫发作。癫痫与智力障碍（P=0.02）和行为问题（P=0.00）之间存在统计学上的显着关联。
分析神经皮肤综合征儿童的癫痫发作对于设计目标特异性治疗至关重要，因为每个综合征的癫痫发生在导致过度兴奋状态的分子途径上有所不同。需要进一步的多中心研究来阐明对神经皮肤综合征的癫痫特征的更好见解。
■在三级护理儿科医院进行的为期18个月的横断面研究，包括年龄在1至15岁之间的神经皮肤综合征儿童，使用2017年国际抗癫痫联盟分类。
■在119名患有神经皮肤综合征的儿童中，94(79%)有癫痫。在八个患有神经纤维瘤病的儿童中，一个患有癫痫，5例（62.5%）有广泛性运动性强直阵挛性癫痫发作，1例（12.5％）患有全身性运动型癫痫痉挛，1(12.5%)有广义运动自动机，1例(12.5%)出现局灶性癫痫发作.69例结节性硬化症合并癫痫患儿，30例（43.5%）有广泛性运动型癫痫痉挛，23人(33.3%)有局灶性癫痫发作，9例(13.0%)患有全身性运动性强直阵挛性癫痫发作。在14名患有癫痫的Sturge-Weber综合征的儿童中，13人（92.8%）有局灶性癫痫发作，1例(7.2%)有广泛性运动性强直性癫痫发作。癫痫与智力障碍（P=0.02）和行为问题（P=0.00）之间存在统计学上的显着关联。
分析神经皮肤综合征儿童的癫痫发作对于设计目标特异性治疗至关重要，因为每个综合征的癫痫发生在导致过度兴奋状态的分子途径上有所不同。需要进一步的多中心研究来阐明对神经皮肤综合征的癫痫特征的更好见解。
