Caterina Tonon1, David Neil Manners1, Claudia Testa1, Emil Malucelli1, Piero Parchi2, Rita Rinaldi3, Roberto De Giorgio4, Carlo Casali5, Michio Hirano6, Giuseppe Plazzi2, Valerio Carelli2, Bruno Barbiroli1, Raffaele Lodi1
1MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, Italy, Italy; 2Department of Neurological Sciences, University of Bologna; 3Neurology Unit, Policlinico S. Orsola-Malpighi, Bologna; 4Department of internal Medicine and Gastroenterology, Policlinico S. Orsola-Malpighi, Bologna; 5Department of Neurology, University la Sapienza, Roma; 6Department of Neurology, College of Physicians and Surgeons, Columbia University,, New York City, NY
The aim of this study was to clarify the pathophysiology of leucoencephalopathy in five patients with Mitochondrial NeuroGastroIntestinal Encephalomyopathy, a rare disorder caused by loss of function mutations in the gene encoding tymidine phosphorylase. The reduction of all 1H-MRS metabolites detected in the white matter (WM) can be explained by a dilution effect due to increased brain water content demonstrated by the increased of WM mean diffusivity (MD). On the basis of the negative correlation between WM MD values and WM [NAA], we hypothesize that the brain damage in MNGIE is compartmentalised and mediated by the impairment of the osmoregulation where also NAA has been implicated.