MRI features of phenylketonuria in brain / 中国医学影像技术

ABSTRACT

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.