Pietz J, Schmidt E, Matthis P, Kobialka B, Kutscha A, de Sonneville L
Department of Paediatric Neurology, Children's Hospital, University of Heidelberg, Germany.
Dev Med Child Neurol. 1993 Jan;35(1):54-64. doi: 10.1111/j.1469-8749.1993.tb11552.x.
The authors report the results of two EEG studies on adult patients with phenylketonuria (PKU) who had been treated early. Part I: the authors followed the EEGs of 34 PKU patients from birth to age 21. The frequency of abnormal EEG findings (especially epileptiform activity) steadily increased until age 12, then decreased. IQ correlated significantly with quality of dietary control during follow-up. Part II: frequency analysis of the EEG and neuropsychological testing were performed on eight adult patients after periods of four weeks with low and high levels of phenylalanine. Only five patients followed the strict dietary regulations. With high levels of phenylalanine, the dominant peak of EEG background activity shifted to the slower frequency spectrum in all patients; in addition, neuropsychological testing revealed impairment of cognitive function. The significance of different approaches of EEG examinations is discussed with respect to the problems of monitoring PKU patients and the pathogenic mechanisms of CNS damage in phenylketonuria.
作者报告了两项针对早期接受治疗的成年苯丙酮尿症（PKU）患者的脑电图（EEG）研究结果。第一部分：作者追踪了34名PKU患者从出生到21岁的脑电图。异常脑电图结果（尤其是癫痫样活动）的频率在12岁之前稳步上升，之后下降。智商与随访期间饮食控制的质量显著相关。第二部分：对八名成年患者在苯丙氨酸水平处于低水平和高水平的四周后进行了脑电图频率分析和神经心理学测试。只有五名患者遵循严格的饮食规定。苯丙氨酸水平高时，所有患者脑电图背景活动的主峰都移向较慢的频谱；此外，神经心理学测试显示认知功能受损。针对监测PKU患者的问题以及苯丙酮尿症中枢神经系统损伤的致病机制，讨论了脑电图检查不同方法的意义。
