Clinical Manifestations of Mitochondrial Diseases

J Korean Neurol Assoc > Volume 13(4); 1995 > Article

Journal of the Korean Neurological Association 1995;13(4): 941-953.

사립체 질환의 임상양상

권순억, 이기형, 김두응, 황용승, 전이경, 지제근, 이광우

서울대학교 신경과. 소아과. 병리학교실

Clinical Manifestations of Mitochondrial Diseases

Sun Uck Kwon, M.D., Ki Hyung Lee, M.D., Do Eung Kim, M.D., Yong Seung Hwang, M.D., Yi Kyeong Chun, M.D., Je Geun Chi, M.D., Kwang Woo Lee, M.D.

Department of Neurology, Pediatrics and Pathology, Seoul National University College of Medicine

Abstract

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 Key Words : Mitochondrial clinical manifestation, pathological findings, rag-ged-red fiber, MELAS, MERRF, KSS, CPEO