Female, 10 years old, altered mental status and intractable seizures. Areas of T2 hyperintensity are seen involving both thalami, right side more than left. These areas are bright on diffusion weighted images but there is no ADC correlate to verify diffusion restriction. Some questionable mild T2 hyperintensity may exist within the caudate nuclei as well, but this is equivocal.On T2 weighted images, the corticospinal tracts at the level of the posterior limb of the internal capsule and cerebral peduncles are slightly brighter than what is typically seen though this could potentially be normal. Within the medulla, very distinct slitlike areas of T2 hyperintensity are present at the level of the olives. Small T2 hyperintense, T1 hypointense defects are also present within the splenium of the corpus callosum.Although on axial images, there are some areas of apparent gyral/cortical thickening involving the right parietal and posterior temporal lobes, on close inspection of thin section images in 3 planes, this finding probably represents volume averaging of the gyral convolutions. No definite parenchymal structural defects are seen.No evidence of intracranial hemorrhage or any abnormal extra-axial fluid is detected. Ventricles are normal in size and shape. Brain parenchymal volume is normal as well.On postcontrast imaging, a large developmental venous anomaly is evident in the right frontal lobe. No other pathologic enhancement is seen.
Multiple areas of signal abnormality are detected including in the thalami, right side more than left, and questionably in the caudate nuclei and portions of the corticospinal tracts. Distinct signal abnormality is seen within the medullary olives, and there are also small lesions noted in the splenium of the corpus callosum. The pattern of these findings, although not exactly specific for any single etiology, is suggestive of a mitochondrial disorder, a lysosomal storage disorder or some other metabolic derangement. While a profound ischemic insult could potentially produce the findings in the thalami and basal ganglia, it would not necessarily account for the other findings.On some axial images, there is the suggestion of cortical/gyral thickening involving areas of the right parietal and posterior temporal lobes. On close inspection of thin section images, however, no unequivocal findings of a cortical dysplasia or malformation are seen.