Fig. 1

MR images of P1 and P4. P1 had two studies performed, at 16 months (A–D, left panels) and 30 months (A–D, right panels) of age. A Axial T2 images at the midbrain level with hyperintense lesions involving the cerebral peduncles and mild hyperintensity involving the periaqueductal gray matter (arrows). Follow-up (right panel) shows marked increase in the intensity surrounding the aqueduct (arrows). B Axial T2 images at the level of the medulla oblongata demonstrating hyperintensity involving the central medulla (arrow). The later scan (right panel) shows two additional hyperintense lesions involving the lateral portions of the medulla as well (arrows). C Diffusion-weighted images displaying restricted bilateral symmetrical diffusion of the medial thalamus in the later image (right panel, arrows) which did not exist in the earlier scan (left panel). D T2 coronal images exhibiting involvement of the central medulla (black arrow) whereas the follow-up image (right panel) shows additional increased intensity on the lateral portion of the medulla and a new long lesion involving the upper spinal cord (white arrow). P4 had sequential MR images, performed at 6 months (E–G, left panel) and 16 months (E–G, right panel) of age. E T2 coronal images. The later scan (right panel) shows bilateral symmetrical hyperintense lesions involving the putamen (white arrow), brainstem (black arrow), cerebellum (black arrowhead) and upper cervical cord (white curved arrow) F Axial T2 scans demonstrating bilateral symmetrical hyperintense lesions in the putamen and medial thalamus evident only on the later scan (black arrows in right panel). G MR spectroscopy centered at the thalamus exhibiting a lactate peak at 1.3 ppm which appeared only on the later assay (white arrow, right panel)