临床病例报告杂志

Mitochondrial Neuro-Gastrointestinal Encephalopathy (MNGIE), Index of Suspicion

Abstract

Mona Faramawy, Najla Al Kuwaiti, Abdulla Al-Amri and Amar Al Shibli

Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE), is an autosomal recessive disease, is one of the mitochondrial disorders, and is a multisystem disease clinically defined by progressive ophthalmoplegia, peripheral neuropathy, leukoencephalopathy, mitochondrial abnormalities and severe gastrointestinal involvement. Mitochondrial disorders have clinical manifestations reflecting the fact that nearly all organ systems utilize oxidative metabolism. Clinical features often involve tissues with high energy requirements such as central and peripheral nervous systems, and eye, muscle, kidney and endocrine organs.. To the best of our knowledge there is no case report of this syndrome from Middle East and since this presents with diagnostic difficulties so is being reported.