MRI findings of genetic metabolic encephalopathy

LIN Jianjun; ZHANG Wei; LIANG Sha; LIANG Zhijie; MO Yaning; LIANG Xuanqing

Abstract：Objective To explore MRI finding of genetic metabolic encephalopathy.Methods Nine patients (8 males and 1 female) with genetic metabolic encephalopathy were retrospectively analyzed.All patients underwent MRI with T1WI,T2WI and DWI,of whom 3 cases were followed-up by MRI.Results In 8 cases,MRI showed that the hemispheres white matter were symmetrical long T1 long T2 and hyper-intense on DWI and the lesions located in bilateral dorsal thalamus,basal ganglia region and brainstem or corticospinal tract area or subcortical u-shaped fibers.Corpus callosum was involved in 1 case.The frontal lobe and cingulate gyrus were enrolled in 1 case.In addition,the MRI of glutaric aciduria type 1 (GA-1) also revealed that abnormal highsignal intensity on T2-weighted images was seen in the basal ganglia,widening of the sylvian fissure and expansion of CSF spaces.All patients showed encephalatrophy with followed-up by MRI tater.Conclusion The results provided some common features in the brain MR of genetic metabolic encephalopathy.If combined with symmetrical abnormalities of the bilateral dorsal thalamus,basal ganglia and white matter,genetic metabolic encephalopathy should be strongly suspected.