Brain metabolic profiles obtained by proton MRS in two forms of mitochondriopathies: Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia.

The status of brain metabolism has been evaluated using monovoxel short echo time (20 ms) 1H magnetic resonance spectroscopy in 6 patients with two forms of mitochondrial disorders without clinical cerebral involvement: 2 patients with Leber's hereditary optic neuropathy (LHON) and 4 patients with chronic progressive external ophthalmoplegia (CPEO). Patients with LHON displayed normal spectra. In all patients with CPEO, the brain metabolic profiles were abnormal, with no single uniform pattern. No typical cerebral metabolic profile was found even when these disorders were classified either by syndrome or by biochemical defect. No lactate signal was detected. The metabolic alterations observed in CPEO patients contrasted with the absence of clinical signs of encephalopathy. The absence of a typical metabolic profile reflects the large variability in the clinical expression of biochemical defects in mitochondriopathies, and the lack of convergence between genetic deletions, biochemical anomalies and clinical syndromes.