Imaging patterns of paediatric CNS mitochondrial disorders
Pritika Gaur1, Cesar Alves2, Harun Yildiz3
1Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Neuroradiology
|November 5, 2025
Summary
This review offers an imaging-based framework for recognizing central nervous system (CNS) mitochondrial disorders. It details diverse neuroimaging patterns, aiding clinicians in diagnosing these complex genetic conditions.
Area of Science:
- Neuroradiology
- Neurology
- Genetics
Background:
- Primary mitochondrial disorders are a heterogeneous group of genetic diseases.
- Central nervous system (CNS) involvement is common and presents diagnostic challenges.
- Neuroimaging plays a crucial role in the evaluation of these disorders.
Purpose of the Study:
- To establish an imaging-based pattern recognition framework for CNS mitochondrial disorders.
- To highlight the spectrum of neuroimaging findings associated with these conditions.
- To demonstrate the utility of imaging in bridging clinical and genetic findings.
Main Methods:
- Comprehensive review of neuroimaging findings in primary mitochondrial disorders.
- Utilisation of an imaging phenotype approach.
- Inclusion of illustrative case examples.
Main Results:
- Central nervous system (CNS) mitochondrial disorders exhibit a wide range of neuroimaging patterns.
- Pattern recognition in neuroimaging aids in the diagnosis and understanding of these disorders.
- Imaging findings correlate with clinical phenotypes and genotypes.
Conclusions:
- An imaging-based pattern recognition framework is valuable for neuroradiologists and clinicians.
- Neuroimaging is essential for diagnosing and managing central nervous system (CNS) mitochondrial disorders.
- Imaging facilitates the correlation between clinical presentation and genetic basis.
