Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting with Peripheral Neuropathy and Hearing Loss.

Introduction: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare and often fatal genetic disorder caused by mutations in the thymidine phosphorylase gene (TYMP), leading to mitochondrial dysfunction. Symptoms include severe gastrointestinal and neurological issues, such as dysmotility, ophthalmoplegia, leukoencephalopathy, and peripheral neuropathy. Diagnosis typically is delayed until the second decade of life, with an average lifespan of 37 years.

Case presentation: The patient is a 20-year-old female who initially presented with progressive bilateral peripheral lower extremity neuropathy. She was treated symptomatically for years prior to the onset hearing loss, which prompted further imaging and genetic workup revealing MNGIE. She then opted to undergo liver transplant and is awaiting a donor.

Discussion: Currently, MNGIE treatment options include hematopoietic stem cell transplantation, orthotopic liver transplantation, hemodialysis, and platelet infusion. Hematopoietic stem cell transplantation treatments help restore TYMP gene activity, but carry with them increased risk of transplant-related morbidity and mortality. Orthotopic liver transplantation appears to have a more favorable safety profile when compared to hematopoietic stem cell transplantation.

Conclusions: This case highlights the importance of adequate monitoring and interdisciplinary thinking, especially when caring for diseases with wide clinical manifestations. A thorough review of symptomology that includes various specialists may translate to improved diagnosis and care of MNGIE.