Multiple mtDNA deletions with clinical features resembling MNGIE: a combined MRT/MRS and FDG-PET study

Mitochondrial neurogastrointestinal encephalomyelopathy syndrome (MNGIE) disease is known to present with a homogenous clinical picture. The combination of chronic progressive ophthalmoparesis (CPEO) and gastrointestinal symptoms such as chronic diarrhea, intestinal obstructions and cachexia are considered to be of high diagnostic specificity. Multiple deletions and/or depletion in muscular mitochondrial (mt) DNA were found to be associated secondary to mutation of the nuclear gene encoding thymidine phosphorylase (TP) on chromosome 22q13.32-qter. However, recent reports described cases with clinical features un…