婴儿型 Pallister-Killian 综合征伴光敏性肌阵挛性癫痫。
Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.
机构信息
Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Bologna, Italy; Epilepsy Center, Health Sciences Department, Università degli Studi di Milano, San Paolo Hospital, Milan, Italy.
Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Bologna, Italy.
出版信息
Eur J Paediatr Neurol. 2019 Jul;23(4):653-656. doi: 10.1016/j.ejpn.2019.05.012. Epub 2019 May 25.
INTRODUCTION
Pallister-Killian Syndrome (PKS) (OMIM #601803) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. Epilepsy is a frequent concern in PKS patients.
METHODS
we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype.
RESULTS
Epilepsy onset was in the first 2 years of life in all patients and in 2 of them myoclonic seizures were the only seizure type. In all children photosensitivity was observed and myoclonic seizures were mainly related to low-frequency (1-6 Hz) intermittent photic stimulation. Levetiracetam was effective and well tolerated in the 2 treated patients.
CONCLUSIONS
early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children.
简介
帕里斯特-基利安综合征（PKS）（OMIM #601803）是一种由 12 号染色体短臂的镶嵌四体性引起的罕见遗传疾病。癫痫是 PKS 患者常见的关注点。
方法
我们报告了 3 名 PKS 患者，他们患有早发性肌阵挛性癫痫和光敏感性。在这些儿童中，我们分析了癫痫发作史和脑电图表型。
结果
所有患者的癫痫发作均发生在 2 岁之前，其中 2 例仅有肌阵挛发作。所有儿童均观察到光敏感性，且肌阵挛发作主要与低频（1-6 Hz）间歇性光刺激有关。在 2 例接受治疗的患者中，左乙拉西坦有效且耐受性良好。
结论
早发性肌阵挛性癫痫可能是 PKS 的临床表现。低频光敏感性是这些儿童独特的生物电标志物。
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