In vivo brain 1H-MRS and DWI, and post-mortem study of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Lodi R, Tonon C, Manners D, Barbiroli B, Hirano M, Carelli V, Bellan M, Plazzi G, Casali C, Valentino M, De Giorgio R, Parchi P
Policlinico S'Orsola-Malpighi, Universit di Bologna
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder caused by mutations in the thymidine phosphorilase (TP) gene. The pathophysiology of the typical WM hyperintensities detectable on conventional MRI is unclear. In three patients with molecular diagnosis of MNGIE we found an increase of WM ADC associated with a global reduction in 1H-MRS metabolites. 1H-MRS disclosed reduced levels of WM Cho suggesting that myelin pathology does not occur and that both ADC and 1HMRS changes may be secondary to an increase in WM water content in the absence of significant pathological changes as demonstrated in one of cases presented.