苯丙酮尿症颅脑MRI表现

Abstract

目的 观察苯丙酮尿症患者脑部MRI表现.方法 回顾性分析经临床确诊为苯丙酮尿症13例患儿的脑部影像学资料,观察大脑、小脑及脑干的结构及信号改变.结果 13例均见双侧侧脑室后角及三角区白质T2WI高信号改变,视放射均未受累;12例双侧侧脑室体及前角旁白质受累,1例双侧基底核受累,1例广泛脑白质受累,3例伴有髓鞘化发育落后及胼胝体发育不良,1例伴有轻度巨脑回畸形.6例侧脑室旁白质DWI呈高信号,ADC值减低.结论 苯丙酮尿症患儿MRI主要表现为双侧侧脑室后角及三角区白质异常高信号,视放射不受累,并可伴有胼胝体及皮层发育畸形等异常改变.

Objective To observe MRI features of intracranial changes in phenylketonuria (PKU) patients.Methods Brain MRI findings of clinically diagnosed 13 PKU patients were analyzed retrospectively.The structure and signal changes of cerebrum,cerebellum and brainstem were observed.Results Posterior horn and triangle high signals were shown in white matter of bilateral lateral ventricle of all 13 patients on T2WI,while the optic radiation was spared.Periventricular white matter abnormal signals at body and anterior horn bilateral lateral ventricle (n=12),bilateral basal ganglia involvement (n=1),extensive white matter involvement (n=1),backward myelination and agenesis of corpus callosum (n=3),and mild macrogyria deformity (n=1) were found.The high signals in lateral periventricular white matter were shown on DWI,with reduction of ADC values in 6 cases.Conclusion Abnormal high signals in brain posterior horn and triangle white matter,optic radiation spared,and corpus callosum and cortical malformations are brain MRI appearances in brain of PKU.