Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy. Due to its complex clinical findings and non-specific symptoms, diagnosis may be delayed or patients may be misdiagnosed. Multidisciplinary follow-up and treatment of patients is important because it affects many systems and does not have a specific treatment.

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