A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy.
- Author:
Kyoung Kyune PARK
1
;
Jong Yeol KIM
;
Heui Cheun PARK
;
Ho Won LEE
;
Yoon Kyung SOHN
;
Bo Woo JUNG
;
Chung Kyu SUH
Author Information
1. Department of Neurology, School of Medicine, Kyungpook National University.
- Publication Type:Case Report
- Keywords:
Mitochondrial encephalomyopathies;
Ophthalmoplegia;
Leukoencephalopathy/Progressive multifocal
- MeSH:
Adult;
Ankle Joint;
Brain;
Female;
Humans;
Lactic Acid;
Leukoencephalopathies;
Magnetic Resonance Imaging;
Mitochondria;
Mitochondrial Encephalomyopathies;
Ophthalmoplegia;
Peripheral Nervous System Diseases;
Quadriplegia
- From:Journal of the Korean Neurological Association
2001;19(3):309-312
- CountryRepublic of Korea
- Language:Korean
-
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)
