Fig. 2

Serial MRI Brain and Spine in Patient 1. Brain magnetic resonance imaging (MRI) at the age of 2½ years (a—T2 weighted axial view) shows hyperintense confluent signal changes in the periventricular and deep white matter (a). MRI obtained 10 months after presentation showed additional lesions in thalamus and corpus callosum (b, c arrows). Diffusion-weighted imaging (d upper panel and corresponding ADC maps, Fig 1d lower panel) showed restricted diffusion of few white matter lesions (arrows)). e T2 weighted axial view: At the age of 5 years MRI showed attenuation of the white matter lesions MR examination at the age of 17 years the white matter lesions were unchanged (f, T2 weighted axial). g MRS showed lactate peak on multiple occasions. h T2w sagittal: MRI spine at the age of 5 years shows spinal cord lesions in the dorsal and central regions extending from the cervico-medullary junction down to T4). The spinal cord lesions showed enhancement with contrast (i—T1 w axial image, upper panel, and (lower panel, contrast enhanced image). The spinal cord lesions showed gliotic changes (j, T2 weigted sagittal and k, T2 weighted axial)