J Korean Neurol Assoc.
2001 May;19(3):309-312.
A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy
- Affiliations
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- 1Department of Neurology, School of Medicine, Kyungpook National University.
- 2Department of Pathology, School of Medicine, Kyungpook National University.
- 3Department 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)
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