According to the recently published reports about mitochondrial disease, the clinical manifestations are more various than expected. There have been no clinical studies covering whole spectrum of mitochondiral disease except a few case reports in
our
country. The authors performed this studies to understand the various cliniacal and laboratory findings of mitochondrial disease and the usefulness of current tools for the diagnosis of mitochondrial diseases.
We reviewed retrospectively the clinical, laboratory and pathologic findings of mitochondrial disease. Tho diagnosis of mitochondrial disease was based on clinical manfiestations, "ragged-red fiber" in Gomori stainging, and/or abnormal
mitochondrial
morphologies on electron microscopy. Tenty one patients were diagnosed as mitochondrial disease. Their clinical diagnosis included 7 MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes); 3 MERRF (myoclonic
epilepsy
with ragged red fibers); 2 KSS (Kearns-Sayre syndrome); 7 CPEO (chronic progressive external ophthalmoplegia) ; and 2 mitochondrial myopathy. The usefulness of electrodiagnostic studies, such as EMG, NCV and EEG, were limited in some patients.
The
muscle biopsy showed ragged red fibers in 10 of 15 sampled examined. Eleven aptients had abnormal serum lactic acid level.
The authors found that the mitochondrial disease revealed broad clinical spectrum and clinically availabel diagnostic tests, such as serum leactate and light microscopic examination showed limited value. Therefore, to evaluate the mitochondrial
dysfunction with systemic involvement may be disirable to depend on sensitive and specific methods including succinate dehydrogenase (SDH) staining, electron microscopy and biologic studies of mitochondrial DNA.
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