Clinical Manifestations of Mitochondrial Diseases

According to the recently published reports about mitochondrial diseasbl the clinical manifestations are more various than expected. There have been no clinical studies covering whole spectrum of mitochond7iral disease except a few case reports in our country. The authors performed this studies to understand the various clinical 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. The diagnosis of mitochondrial disease was based on clinical manifestations, 'ragged-red fiber' in Gomori stainging, and/or abnormal mitochondrial morphologies on electron microscopy. Twenty 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 FEG, were limited in some patients. The muscle biopsy showed ragged red fibers in 10 of 15 sampled examined. Eleven patients had abnormal serum lactic acid level. The authors found that the mitochondrial disease revealed broad clinical spectrum and clinically available diagnostic tests, such as serum lactate and light microscopic examination showed limited value. Therefore, to evaluate the mitochondrial dysfunction with systemic involvement may be desirable to depend on sensitive and specific methods including succinate dehydrogenase (SDH) staining, electron microscopy and biologic studies of mitochondrial DNA.

A Study for Diagnostic Usefulness of Computer Assisted EEG Topography

The authors studied the diagnostic usefulness of the Topographic analysis of EEG, using Topography ststem 700 (San-ei), in evaluation of supratentorial focal cerebral lesions of 27 patients with various etiology, comparing with visual anslysis of EEG. Focal cerebral lesions, which were proven with brain C-T, were 11 cases of cerebral infarction, 6 of intracranial hematoma, 6 of cerebral gliolysis and 4 of others. The topography system displays the spatial distribution of activity in the classic delta, theta, alpha and beta frequency and computed mapping of EEG displays equipotential maps of square of roots of power spectra over each frequency band. For visual analysis of slow waves and background activity changes, Mayo classification system of EEG abnormality was used and for visual evaluation of topographic display, above system was also applied with some modification in order to compare with the data of visual analysis of conventional EEG. The results of the study were as follows; 1. While visual analysis of conventional anlysis of EEGs showed abnormality only in 13 cases (48.1%) of 27, topographic analysis showed abnormality in 22 cases (81.5%). Topographic analysis was more sensitive than than visual analysis of the EEG and topographic analysis was thought to be more sensitive in assessment of local slow waves as well as minor changes, especially slight asymmetry, of background EEG activity. 2. Topographic analysis showed higher concor dance rate (55.6%) to the brain C-T finding in lateralization of supratentorial focal cerbral lesion than that (44.4%) of visual analysis of the conventional EEG.