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Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients
1Servicio de Radiodiagnóstico, Hospital Universitario 12 de Octubre, Madrid, Spain. almugo@omc.telprof.es
Insights
Mitochondrial diseases, affecting the respiratory chain, often impact children. Brain imaging in young patients reveals diverse abnormalities, including myelin and grey matter lesions, which evolve over time.
Area of Science:
- Neurology
- Pediatrics
- Radiology
- Mitochondrial Biology
Background:
- Mitochondrial diseases stem from defects in mitochondria, crucial for cellular respiration.
- These conditions commonly manifest in children and young adults.
- Early-stage imaging may appear normal, but follow-up reveals progressive abnormalities.
Purpose of the Study:
- To document the spectrum of CT and MRI findings in pediatric patients with mitochondrial diseases.
- To analyze imaging patterns in relation to clinical status and specific disease types.
- To report findings in the youngest patient cohort to date.
Main Methods:
- Retrospective analysis of CT and MRI scans from 17 pediatric patients (<14 years) with diagnosed mitochondrial diseases.
- Correlation of imaging findings with clinical presentation and disease progression.
- Classification of imaging abnormalities into distinct patterns.
Main Results:
- A spectrum of neuroimaging findings was observed in pediatric patients.
- Common patterns included non-specific myelin lesions (8/17) and grey-matter nuclei involvement (6/17).
- Other observed patterns were leukodystrophic changes and brain calcification (1/17), with frequent mixed forms.
Conclusions:
- Neuroimaging plays a vital role in diagnosing and monitoring pediatric mitochondrial diseases.
- Characteristic patterns of brain abnormalities, particularly myelin and grey matter lesions, are identifiable.
- Imaging findings evolve and correlate with clinical status, aiding in disease management.
Abstract:
Mitochondrial diseases result from structural, biochemical or genetic defects of mitochondria, which contain the respiratory chain. They usually affect children and young adults. We report the CT and MRI findings in 17 patients under 14 years of age, the youngest reported to date, with various mitochondrial diseases. Although imaging studies may be normal negative in the early stages, follow-up usually shows many abnormalities, which depend on clinical status and the disease. We have recognised a spectrum of findings that can be divided into four patterns: nonspecific myelin lesions (8/17); grey-matter nuclei involvement (6/17); a leukodystrophic pattern; and calcification of the brain (1/17), although mixed forms, particularly myelin and grey-matter lesions are frequent.