Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision

Abstract

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive condition characterized by gastrointestinal dysmotility, external ophthalmoplegia, leukoencephalopathy, and sensorimotor neuropathy. A 31-year-old man was referred for a 1-year history of horizontal diplopia related to a large exotropia from chronic progressive external ophthalmoplegia. MRI revealed a diffuse leukoencephalopathy and his 3-year history of chronic intermittent diarrhea, cachexia, and diffuse sensory more than motor peripheral neuropathy led to a unifying clinical diagnosis of MNGIE. This was later confirmed with genetic testing, which revealed a homozygous pathogenic mutation in the thymidine phosphorylase (TYMP) gene. His younger brother had an identical clinical syndrome and was similarly diagnosed. MNGIE diagnosis is important to establish to avoid unnecessary invasive testing for gastrointestinal, ophthalmological, and neurological symptoms and to ensure patients receive appropriate nutritional and genetic counselling. Gene therapy offers a potential future therapy for patients with this condition.