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Fig 2. Child with myoclonic epilepsy. A, Coronal T2 FSE performed at 5 mos of age reveals diffuse supratentorial volume loss. B, Coronal T2 FSE performed 6 mos later demonstrates further progression of supratentorial volume loss. The cerebellum remains normal. C, Single voxel short TE PRESS performed during the second MRI examination reveals NAA:Cr=0.80 and Cho:Cr=0.75 which are decreased, and mI:Cr=1.04 which is increased for a child of this age. These findings are consistent with neuronal degeneration.

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Fig 3. 4.5 yr old girl with developmental delay, hypotonia and seizure disorder. A, Axial FLAIR sequence shows bifrontal focal volume loss and abnormal white matter signal. B, Single voxel long TE PRESS reveals abnormally low NAA for age. This finding is consistent with neuronal degeneration.

Fig 4. 3 yr old girl with hypotonia and optic atrophy. Sagittal T2 FSE images demonstrate isolated cerebellar volume loss. The brainstem and supratentorial brain is normal. Cerebellar or brainstem/cerebellar atrophy can occur with mitochondrial OXPHOS disorders and should be included in the differential of pathologic processes leading to this pattern of disease.

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Fig 5. 6 yr old boy with seizures and hypotonia. A. Initial coronal T2 FSE demonstrating moderate diffuse cerebral and cerebellar volume loss. B. Follow-up scan 2 mos later shows further progression to severe volume loss. There is a variability in the progression of volume loss. Some cases appear to progress rapidly, while others remain fairly stable.