A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy

J Korean Neurol Assoc > Volume 19(3); 2001 > Article

Journal of the Korean Neurological Association 2001;19(3): 309-312.

Mitochondrial Neurogastrointestinal Encephalomyopathy 1예

박경건, 김종열 박희천 이호원 손윤경*정보우†서정규

경북대학교 의과대학 신경과학교실,병리과학교실*,포천중문의과대학교부속 구미 차병원 신경과학교실†

A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy

Kyoung-Kyune Park, M.D., Jong-Yeol Kim, M.D., Heui-Cheun Park, M.D., Ho-Won Lee, M.D., Yoon-Kyung Sohn, M.D.*, Bo-Woo Jung, M.D.† , Chung-Kyu Suh, M.D.

Department of Neurology and Pathology*, School of Medicine, Kyungpook National University,Department of Neurology, College of Medicine Pochon CHA University, Kumi CHA General Hospital†

Abstract

Mitochondrial neurogastrointestinal encephalomyopahty (MNGIE) is a rare disorder and is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms with intestinal dysmotility, and histologically abnormal mitochondria in muscle. A 32-year-old female showed external ophthalmoparesis, bilateral ptosis, quadriparesis, and sensory change below both ankle joints. Level of serum lactic acid was highly increased. The brain MRI showed diffusely increased signal intensity in the centrum semiovale and white matter. Electron microscopic finding showed paracrystalline inclusions in mitochondria of a few muscle fibers.J Korean Neurol Assoc 19(3):309~312, 2001 Key Words : Mitochondrial encephalomyopathies, Ophthalmoplegia, Leukoencephalopathy/Progressive multifocal