MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review

We report brain MRI findings in four patients with typical Kearns-Sayre syn drome (KSS) and correlate them with clinical manifestations. MRI was interp reted as normal in two patients; cerebral and cerebellar atrophy was seen i n the other two. On T2-weighted spin-echo images, two patients had high-sig nal lesions bilaterally in subcortical white matter, thalamus and brain ste m. In one patient, the white matter lesion extended into the deep cerebral white matter and the cerebellum was also affected. The other also had bilat eral high-signal lesions in the globus pallidus. There was little correlati on between neurological deficits and MRI findings. A review of the literatu re revealed that 10 of the 13 patients with typical KSS previously studied had bilateral subcortical white-matter lesions on T2-weighted images; at le ast 7 also had high-signal lesions in the brain stem, globus pallidus, thal amus or cerebellum. Although MRI may be normal or show atrophy, the charact eristic finding in KSS is a combination of the high-signal foci in subcorti cal cerebral white matter and in the brain stem, globus pallidus or thalamu s.