Santavuori P, Raininko R, Vanhanen S L, Launes J, Sainio K
Department of Child Neurology, University of Helsinki, Finland.
Dev Med Child Neurol. 1992 Jan;34(1):61-5. doi: 10.1111/j.1469-8749.1992.tb08564.x.
Two patients with infantile neuronal ceroid lipofuscinosis are presented whose clinical diagnosis was based on the typical clinical picture, together with absent sleep spindles and MRI findings (hypointense thalami and hyperintense periventricular white matter) as early as 18 months in one girl. In addition to a flat cortical SEP, these abnormalities appeared earlier than the typical ERG and VEP findings used previously for clinical diagnosis of this condition. MRI of the other patient showed the same changes and EEG sleep spindles were absent by two years.
本文报告了两名患有婴儿神经元蜡样脂褐质沉积症的患者，其临床诊断基于典型的临床表现，以及早在一名18个月大女孩身上就出现的睡眠纺锤波缺失和MRI表现（丘脑低信号和脑室周围白质高信号）。除了皮质体感诱发电位平坦外，这些异常比先前用于该疾病临床诊断的典型视网膜电图和视觉诱发电位表现出现得更早。另一名患者的MRI显示了相同的变化，且在两岁时脑电图睡眠纺锤波缺失。
