73例苯丙酮尿症患儿的脑MRI分析

目的；分析苯丙酮尿症／颅脑ＭＲＩ异常表现，方法：用０．５Ｔ超导磁共振机对临床检查和生化测定确诊的７３例苯丙酮尿症患儿行头颅扫描。结果：ＭＲＩ发现异常７１例。Ｔ２ＷＩ上脑白质内散在斑片状高信号灶最为常见（６９人次）；沿胼胝体向明后延伸并向双侧放射冠和半卵圆中心白质对称性扩展的弥漫性高信号病灶在Ｔ２ＷＩ上也很常见（５１人次）；ＭＲＩ玩赏发现无胼胝体（３人次）、胼胝体发育不良（１７人次）、无透明隔（２人

MRI STUDY ON BRAIN IN PHENYLKETONURIA

Objective:To summarize the brain abnormalities in phenylketonuria(PKU) patients by using MRI.Methods:Seventy three patients with clinically and biochemically documented phenylketonuria were studied with use of 0 5 T superconductive MRI.Results:Brain abnormalities were detected in 71 patients with PKU.Patchy areas of increased signal intensity in white matter on T 2 WI is the most common lesion (in 69 patients).The confluent high signal intensity extending symmetrically from corpus callosum to corona radiata was also often detected(in 51 patients). Absence of corpus callosum(in three patients) and septum pellucidum(in two patients),agenesis of corpus callosum(in 17 patients) and cerebellar vermis(in one patient) were found.MRI also demonstrated decreased cranial cavity predominatly in frontal region(in five patients),pachygyria(in two patients),and diffuse or local brain atrophy(in 24 patients).Conclusion:Patchy and confluent areas of increased signal intensity in white matter,brain atrophy and development anomalies,and decreased cranial cavity are the abnormal appearances in brain of PKU.