Recognizing the rare: A clinical description of mitochondrial neuro-gastro-intestinal encephalopathy

This case report describes a patient diagnosed with a rare cause of leukoencephalopathy called Mitochondrial Neurogastrointestinal encephalopathy (MNGIE) syndrome. The patient had cachexia and a childhood history of gastrointestinal symptoms for which he was diagnosed with superior mesenteric artery syndrome. During early adulthood, he developed progressive sensory-motor polyneuropathy and ophthalmoplegia along with skeletal abnormalities. The patient’s parents are in a consanguineous marriage and his elder sibling died at a younger age. The combination of multisystem involvement from the patient’s history raised the suspicion of a genetic disease involvement and testing revealed MNGIE. This case report highlights the challenges of suspecting and diagnosing rare causes of leukoencephalopathy such as MNGIE when presenting with overlapping symptoms and multisystem involvement since early childhood.