The many faces of paediatric mitochondrial disease on neuroimaging
Fabian Baertling1, Dirk Klee2, Tobias B Haack3,4
1Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Germany.
Insights
Genetic testing is advancing rapidly for pediatric mitochondrial diseases, broadening the spectrum of associated brain MRI findings. While some patterns suggest specific syndromes, MRI alone can only prioritize genes in some cases.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Pediatric mitochondrial diseases have a rapidly expanding genetic basis.
- Neuroimaging findings in these conditions are diverse and complex.
- Radiologists and clinicians require updated guidance on brain MRI in these patients.
Purpose of the Study:
- To provide a concise overview of brain MRI findings in children with genetically confirmed mitochondrial diseases.
- To correlate neuroimaging patterns with specific genetic diagnoses.
- To assess the utility of MRI in guiding genetic testing.
Main Methods:
- Review of brain MRI findings in pediatric patients with genetically confirmed mitochondrial diseases.
- Categorization of imaging patterns, including Leigh syndrome and structural abnormalities.
- Analysis of the correlation between imaging findings and genetic diagnoses.
Main Results:
- Neuroimaging spectrum ranges from classical Leigh syndrome (basal ganglia/brainstem lesions) to structural anomalies (cerebellar hypoplasia, corpus callosum dysgenesis).
- Certain MRI patterns can be suggestive of specific mitochondrial syndromes.
- MRI-based candidate gene prioritization is effective only in a subset of patients.
Conclusions:
- Brain MRI plays a crucial role in characterizing pediatric mitochondrial diseases.
- While suggestive patterns exist, genetic confirmation remains essential.
- MRI findings can aid, but not fully determine, genetic diagnoses in all cases.
Abstract:
The knowledge about the genetic spectrum underlying paediatric mitochondrial diseases is rapidly growing. As a consequence, the range of neuroimaging findings associated with mitochondrial diseases became extremely broad. This has important implications for radiologists and clinicians involved in the care of these patients. Here, we provide a condensed overview of brain magnetic resonance imaging (MRI) findings in children with genetically confirmed mitochondrial diseases. The neuroimaging spectrum ranges from classical Leigh syndrome with symmetrical lesions in basal ganglia and/or brain stem to structural abnormalities including cerebellar hypoplasia and corpus callosum dysgenesis. We highlight that, although some imaging patterns can be suggestive of a genetically defined mitochondrial syndrome, brain MRI-based candidate gene prioritization is only successful in a subset of patients.
