Abstract

Background and Purpose: There is a need for new non-invasive quick test that provides physicians accurate information for the early diagnosis of mitochondrial encephalomyopathies (ME). Advances in MR technology have provided new insight in the diagnosis of metabolic and other complex metabolic diseases in children, therefore, we sought to see if new technological MR tools, namely Diffusion-Weighted imaging (DWI) and proton MR spectroscopy (1H-MRS) helped in the early diagnosis of ME. Methods: From a population of 55 patients diagnosed with ME, 10 patients also underwent DW imaging and/or 1HMRS, at 1.5 T, by means of PRESS monovoxel short TE acquisition (TE: 35 ms) or 2D multivoxel long TE acquisition (TE:144 ms). Results: On DW imaging, patients with acute clinical status showed statistically more lesions than on their conventional counterparts. On 1HMRS, all patients with acute clinical status showed brain lactate, which was superior to its detection on serum/CSF. Conclusion: Neuroradiologic information provided for current MR advanced tools is becoming the first para-clinical test in the early tentative diagnosis of ME, in children with acute onset of encephalopatic status.

Keywords: Mitochondrial diseases, Magnetic Resonance Imaging and children diseases, brain, metabolic diseases, MR Spectroscopy, proton MR Spectroscopy, MR imaging and diffusion weighted studies