PMC4749299_01
Neuroimaging findings.. A: axial T2 weighted MRI of patient 2 taken during an episode with seizures, increasing encephalopathy and exacerbation of the dystonia. Images show bilateral high T2-signal changes and swelling in the putamen and caudate head. In addition there are multiple cortical lesions preferentially occurring in the depths of sulci, which is typical of BBGD. B: axial T2 and coronal T2-FLAIR weighted MRI of patient 1 taken during an episodic exacerbation show a similar pattern with bilateral striatal and multiple cortical lesions. The signal abnormalities regressed completely on later scans (not shown). C (upper lane): FDG-PET scan of the brain of patient 1 taken ~5 years later shows multiple foci of decreased glucose metabolism that correlate to the localization of the transient cortical signal changes on MRI. The striatum shows minimal uptake consistent with severe neuronal loss. A normal scan is shown in the lower lane for comparison.
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PMC4749299_01_pone.0149055.g001.jpg
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MRI of the brain performed during an episodic exacerbation at the age of 16 years showed bilateral lesions of the striatum and multiple cortical lesions affecting the depths of sulci as is typical for this disorder (Fig 1B). FDG-PET scan of the brain at the same age however revealed multiple cortical hypometabolic foci which correlated to the transient MRI signal changes suggesting focal neuronal loss or persistent metabolic impairment (Fig 1C).