Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings

We report unusual MR serial imaging and electron microscopy findings in a 3 -year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) defici ency, The MR imaging findings included periventricular white matter involve ment, posteroanterior progression, and extension through the corpus callosu m and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was suggestive of leukodystrophy. The most noteworthy fin dings were the cystic foci with contrast enhancement in the affected white matter.