Abstract
A 32-year-old male with eyelid ptosis, progressive external ophthalmoplegia, mild weakness of the limbs, dementia and EEG abnormality is reported. Muscle biopsy was performed at the biceps muscle. Modified Gomori trichrome staining showed ragged red fibers, and electron micrographs showed accumulation of abnormal mitochondria. Our case belongs neither to typical Kearns-Sayre syndrome nor to chronic progressive external ophthalmoplegia, since it does not have heart block and pigmentary retinopathy but has CNS abnormalities. We regard this case as probable Kearns-Sayre syndrome from recent genetic investigations about mitochondrial encephalomyopathy.
