A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Résumé
Objective: To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, major cause of respiratory chain dysfunction, accounts for various clinical presentations, including Leigh syndrome. Human complex I comprises seven core subunits encoded by mitochondrial DNA (mtDNA) and 38 nuclearly-encoded core subunits (nDNA). Moreover, its assembly requires six known and many unknown assembly factors. To date, no correlation between genotypes and brain MRI phenotypes has been found in complex I deficiencies. Design and Subjects: We have retrospectively collected the brain MRI of 30 patients carrying known mutation(s) in genes involved in complex I and compared them with the brain MRI of 11 patients carrying known mutation in genes involved in pyruvate dehydrogenase (PDH) complex and 10 patients with MT-TL1 mutations. Results: All complex I deficient patients showed bilateral brainstem lesions (30/30) and the 77% (23/30) showed putaminal anomalies. Supra-tentorial stroke-like lesions were only observed in complex I deficient patients carrying mtDNA mutations (8/19) and necrotizing leukoencephalopathy in patients with nDNA mutations (4/5). Conversely, the isolated stroke-like images observed in patients with MT-TL1 mutations, or corpus callosum dysmorphism observed in PDH deficient patients were never observed in complex I deficient patients. Conclusion: We identified a common pattern of brain MRI imaging with signal abnormalities in brainstem and subtentorial nuclei with lactate-peak as a clue of complex I deficiency. We suggest that combining clinico-biochemical data with brain imaging can help orient genetic studies in complex I deficiency.
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