Leyten Q H, Gabreëls F J, Renier W O, van Engelen B G, ter Laak H J, Sengers R C, Thijssen H O
Department of Child Neurology, University Hospital Nijmegen, The Netherlands.
J Neurol Sci. 1995 Apr;129(2):162-9. doi: 10.1016/0022-510x(94)00264-o.
Central nervous system (CNS) characteristics were examined in seventeen patients with autosomal recessive classic or "pure" congenital muscular dystrophy (CMD). In three patients, neuroradiological examination (CT/MRI) indicated hypodense white matter areas. Two out of these three patients had epilepsy (seizures and epileptic discharges on their EEG). Only two of the remaining patients had epileptic EEG discharges, but without clinical seizures. By comparing our results to data in the literature, we could conclude that the classic or "pure" form of CMD can be subdivided into two subtypes, i.e. those with and those without white matter hypodensities. A mild form of epilepsy or an epileptic predisposition on EEG can be part of the subtype with white matter hypodensities.
对17例常染色体隐性遗传的典型或“单纯”先天性肌营养不良（CMD）患者的中枢神经系统（CNS）特征进行了检查。3例患者经神经放射学检查（CT/MRI）显示白质区域密度减低。这3例患者中有2例患有癫痫（脑电图显示有发作和癫痫样放电）。其余患者中只有2例有癫痫样脑电图放电，但无临床发作。通过将我们的结果与文献数据进行比较，我们可以得出结论，典型或“单纯”形式的CMD可分为两个亚型，即有白质密度减低的亚型和无白质密度减低的亚型。轻度癫痫或脑电图上的癫痫易感性可能是白质密度减低亚型的一部分。
