Mitochondrial Neurogastrointestinal Encephalomyopathy (Mngie)

Mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomalrecessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patientwith mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had afluctuating course. this 26-year-old female patient developed acute-onset demyelinatingpolyneuropathy from the age of 6 with two relapses later on. in addition, she had gastrointestinalsymptoms (diarrhea, recurrent abdominal pain), progressive weight loss and ophthalmoparesis. brainmagnetic resonance imaging showed white matter abnormalities, and muscle biopsy showed ragged redfibers. this constellation of clinical and laboratory findings raised the diagnosis of mitochondrialneurogastrointestinal encephalomyopathy (mngie). this report highlights the uncommon clinicalcharacteristics of this rare disease.