FIGURE 3:

Accuracy of magnetic resonance imaging (MRI) pattern recognition prior to agnostic testing. Thirty-two MRIs were reviewed by clinicians experienced in the diagnosis of leukodystrophy patients. If the ultimate diagnosis was a canonical leukodystrophy, at least one of the reviewers correctly identified the MRI pattern and the diagnosis (8/10). High certainty of the category of disease if the final diagnosis was a mitochondrial leukoencephalopathy (4/4) was demonstrated. If the final diagnosis was neither a mitochondrial disease nor a leukodystrophy, MRI pattern recognition never identified the correct diagnosis (0/18 cases).