Shaw D W, Maravilla K R, Weinberger E, Garretson J, Trahms C M, Scott C R
Department of Radiology, University of Washington School of Medicine, Seattle 98195.
AJNR Am J Neuroradiol. 1991 May-Jun;12(3):403-6.
Cranial MR imaging was performed on nine patients (13-27 years old) with classical phenylketonuria in order to define the spectrum of abnormal findings and to determine if these could be related to clinical or biochemical findings. MR abnormalities consistent with demyelination were found in varying degrees in a distribution corresponding to previous histopathologic studies. Specifically, increased signal was seen on T2-weighted sequences, most marked in the periventricular deep cerebral white matter. These changes were more prominent posteriorly, especially about the optic radiations. Comparison with clinical history and MR findings in this small series revealed that patients with adequate dietary control of phenylalanine levels had less severe white matter abnormalities than did patients with poorly controlled phenylalanine intake.
对9名年龄在13至27岁之间的经典型苯丙酮尿症患者进行了头颅磁共振成像检查，以明确异常表现的范围，并确定这些异常是否与临床或生化检查结果相关。在与既往组织病理学研究相对应的分布区域内，发现了不同程度的与脱髓鞘相符的磁共振异常。具体而言，在T2加权序列上可见信号增强，最明显的是脑室周围深部脑白质。这些变化在后部更为突出，尤其是在视辐射周围。在这个小样本系列中，将临床病史与磁共振成像结果进行比较发现，苯丙氨酸水平饮食控制良好的患者，其白质异常程度比苯丙氨酸摄入控制不佳的患者轻。
