Ville Dorothée, Kaminska Anna, Bahi-Buisson Nadia, Biraben Arnaud, Plouin Perrine, Telvi Louise, Dulac Olivier, Chiron Catherine
Department of Clinical Neurophysiology, Hôpital Necker Enfants Malades, Paris, France.
Epilepsia. 2006 Mar;47(3):543-9. doi: 10.1111/j.1528-1167.2006.00465.x.
The characteristics of epilepsy in ring chromosome 20 have been reported in adolescents and adults. The mode of onset most often remains imprecise. To clarify this onset period, we studied the early-onset features in our personal series and in the reported pediatric cases.
Our series comprises one child with an onset of epilepsy in the neonatal period and five others with an onset before age 8 years. The cases in the literature with an epilepsy onset before 8 years also were reviewed.
Seizures in the neonatal period were described as motor seizures. Our personal patient with a neonatal onset had severe psychomotor delay. In both infancy and early childhood, the EEG showed no interictal frontal localization of the anomalies, and no long-lasting seizure was recorded. Seizures with terror and hallucinations usually appeared from about age 4 years. It is not before the age of 8 years that the usual interictal EEG pattern appeared of rhythmic theta slow-waves activity with spikes predominating in frontal areas described in adolescence and adulthood. The interictal EEG showed 1- to 2-Hz delta slow waves and spike-and-waves predominating in frontal areas, but no physiologic activity.
In ring 20 chromosome, specific epilepsy features are lacking in the neonate, but the whole phenotype shows a more severe expression in terms of mental delay. The characteristic frontal EEG pattern and ictal terror do not appear before age 4 to 5 years.
青少年和成人环形染色体20相关癫痫的特征已有报道。其发病方式大多仍不明确。为明确发病时期，我们研究了我们个人系列病例及已报道的儿科病例中的早发性特征。
我们的系列病例包括1例新生儿期起病的癫痫患儿和另外5例8岁前起病的患儿。我们还回顾了文献中8岁前起病的癫痫病例。
新生儿期发作表现为运动性发作。我们个人系列中新生儿期起病的患者有严重的精神运动发育迟缓。在婴儿期和幼儿期，脑电图均未显示发作间期异常的额叶定位，也未记录到持续时间长的发作。伴有恐惧和幻觉的发作通常在4岁左右开始出现。直到8岁，才出现青少年期和成人期所描述的发作间期脑电图典型模式，即节律性θ慢波活动，额叶区以棘波为主。发作间期脑电图显示1至2赫兹的δ慢波和额叶区为主的棘慢波，但无生理活动。
环形染色体20相关癫痫在新生儿期缺乏特异性特征，但整体表型在智力发育迟缓方面表现更为严重。特征性的额叶脑电图模式和发作性恐惧在4至5岁前不会出现。
