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In a group of 13 patients affected by oculocraniosomatic neuromuscular disease with mitochondrial abnormalities and ragged-red fibers, a major, diffuse leukoencephalopathic process was recognized by computerized tomography (CT) in three cases. Clinically, these three patients were the most severely affected. The areas involved by the leukoencephalopathic process did not show enhancement after contrast medium injection. In several of the remaining ten cases, various forms and grades of CSF cavity dilation were encountered. Four of the 13 patients had very high CSF protein levels, three had CT-demonstrated leukoencephalopathy, and the fourth had substantial sulcal dilation. The CT findings in this group of patients corresponded well to the previously reported histopathological observations and indicated the clinical usefulness of CT in identifying brain involvement in this syndrome.
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