Diagnostic MR imaging patterns in mitochondrial leukodystrophies
| MR Imaging Patterns |
|---|
| Succinate dehydrogenase (complex 2) deficiency Abnormalities in the brain stem, more specifically in the transverse pontine fibers Abnormalities in the middle cerebellar peduncles Abnormalities in the thalami Succinate in MR spectroscopy |
| Complex 3 and 4 defects Numerous small cysts with well-defined borders in the periventricular and deep cerebral white matter |
| Kearns-Sayre syndrome Abnormalities predominantly affecting the directly subcortical cerebral white matter plus abnormalities in the globus pallidus and substantia nigra |
| NUBPL defects T2 hyperintensity of the cerebellar cortex plus cerebral white matter abnormalities |