Tackmann W, Kuhlendahl D
Eur Neurol. 1979;18(4):234-42. doi: 10.1159/000115082.
Nerve conduction, EEG, visual evoked potentials, electroretinograms and somatosensory evoked potentials were investigated in 3 children with the Bielschowsky-Jansky-type and in 1 child diagnosed as Spielmeyer-Vogt-type of neuronal ceroid lipofuscinosis. Electroretinographic responses were abolished in all of them. Electroencephalograms showed high amplitude, irregular delta-theta activity and spike- or polyspike-wave discharges without localized preponderance. As a characteristic feature for the Bielschowsky-Jansky type grossly enlarged evoked responses to single light flashes were recorded. Somatosensory evoked potentials were increased in amplitude in 2 patients. Myoclonic jerks of the pyramidal type could be elicited by electrical stimuli to the median nerve. The possibility to differentiate certain neurometabolic disorders of childhood by simple electrophysiological parameters is discussed.
对3例患有比尔斯科夫斯基-扬斯基型和1例被诊断为施皮勒梅耶-福格特型神经元蜡样脂褐质沉积症的儿童进行了神经传导、脑电图、视觉诱发电位、视网膜电图和体感诱发电位检查。他们所有人的视网膜电图反应均消失。脑电图显示高振幅、不规则的δ-θ活动以及棘波或多棘波放电,无局部优势。作为比尔斯科夫斯基-扬斯基型的一个特征性表现,记录到对单次闪光的诱发电反应明显增大。2例患者的体感诱发电位振幅增加。对正中神经进行电刺激可诱发锥体型肌阵挛抽搐。讨论了通过简单的电生理参数区分儿童某些神经代谢障碍的可能性。