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[Mitochondrial encephalomyopathy. Report of a case]
Zhonghua Shen Jing Jing Shen Ke Za Zhi = Chinese Journal of Neurology and Psychiatry
|February 1, 1990
Summary
This report details a case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS). Muscle biopsy confirmed ragged-red fibers and mitochondrial abnormalities, characteristic of this rare neurological disorder.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Genetics
Background:
- Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS) is a rare genetic disorder.
- It primarily affects the brain and muscles, leading to progressive neurological decline.
Observation:
- The patient presented with short stature, psychomotor deterioration, sensorineural deafness, and hemiparesis.
- Abnormal findings were noted in lactic acid tolerance tests, EEG, VEP, AEP, SEP, and MCV.
- CT scans revealed multiple intracerebral infarcts, basal ganglia calcifications, and cerebral atrophy.
Findings:
- Muscle biopsy showed characteristic ragged-red fibers on modified Gomori trichrome stain.
- NADH-TR staining was strongly positive in affected muscle fibers.
- Electron microscopy revealed subsarcolemmal mitochondrial aggregation with paracrystalline inclusions and abnormal cristae.
Implications:
- This case highlights the diagnostic challenges and clinical spectrum of MELAS.
- Understanding the ultrastructural mitochondrial pathology is crucial for accurate diagnosis.
- Further research into MELAS pathogenesis may lead to targeted therapies.