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Intramyelin splitting in the spongiform lesions of Leigh syndrome
1Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Insights
Leigh syndrome in an infant involved developmental delay and seizures. Pathological findings revealed abnormal mitochondria and intramyelin splitting in the brainstem, suggesting its role in spongiform lesion development.
Area of Science:
- Neuroscience
- Mitochondrial Diseases
- Pediatric Neurology
Background:
- Leigh syndrome is a severe, progressive neurodegenerative disorder affecting infants.
- Clinical presentation includes developmental delay, apnea, metabolic acidosis, and seizures.
- Characteristic neuroimaging findings include symmetric basal ganglia lesions.
Observation:
- Brain MRI revealed symmetric putaminal hypointensities and brainstem hyperintensities.
- Muscle biopsy showed subsarcolemmal accumulation of abnormal mitochondria.
- Postmortem examination of myocardium, liver, and brainstem identified vacuoles and spongiform lesions.
Findings:
- Light microscopy of the brainstem showed spongiform lesions with round cell infiltration and vascular proliferation.
- Electron microscopy confirmed intramyelin splitting within the spongiform lesions.
- Vacuoles were observed in myocardial and hepatic cells.
Implications:
- Intramyelin splitting is proposed as a key mechanism in the pathogenesis of spongiform lesions in Leigh syndrome.
- This finding may offer new insights into the cellular pathology of this devastating condition.
- Further research into mitochondrial dysfunction and myelin pathology is warranted for potential therapeutic targets.
Abstract:
A 5-month-old male infant, diagnosed as Leigh syndrome, presented with developmental delay, episodic apnea, metabolic acidosis, and myoclonic seizures. The magnetic resonance image of brain showed multiple symmetric low signals over the putamen in the T1-weighted axial view and linear high signal over the brainstem in the T2-weighted sagittal view. On electron microscopy, subsarcolemmal aggregation of abnormal mitochondria in muscle cells were found via biopsy. Small samples of myocardium, liver and brainstem, obtained via necropsy, were subjected to pathological examinations. On light microscopy, vacuoles were found in the myocardium and hepatocytes, while spongiform lesions in the neuropils, round cell infiltration, and vascular proliferation were observed in the brainstem. On electron microscopy, intramyelin splittings were observed in the spongiform lesions. We believe that intramyelin splitting must play an important role in the pathogenesis of spongiform lesions in Leigh syndrome.