title: Mitochondrial neurogastrointestinal encephalomyopathy.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disease characterized by progressive ophthalmoplegia, peripheral neuropathy, mitochondrial abnormalities and gastrointestinal involvement. We describe a 19-year-old male having chronic intestinal pseudoobstruction associated with ophthalmoplegia and proximal muscle weakness. The clinical and radiologic features suggested the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. Mitochondrial genetic defects should be considered in the differential diagnosis of unexplained chronic gastrointestinal symptoms accompanied by neurological findings, especially in families where there is more than one individual with the same kind of symptoms.
authors.affiliation: Department of Internal Medicine, Ankara Dişkapi Educational and Research Hospital, Ankara, Turkey. drezgi-76@hotmail.com
authors.forename: Ezgi
authors.initials: E
authors.lastname: Coşkun
authors.forename: Gülay
authors.initials: G
authors.lastname: Ulusal
authors.forename: Nilüfer
authors.initials: N
authors.lastname: Bulut
authors.forename: Hesna
authors.initials: H
authors.lastname: Bektaş
authors.forename: M Fevzi
authors.initials: MF
authors.lastname: Oztekin
authors.forename: I Safa
authors.initials: IS
authors.lastname: Yildirim
mesh_terms: D000328:Adult; D004378:Duodenal Diseases / Q000209:etiology* / Q000503:physiopathology; D005758:Gastritis, Hypertrophic / Q000209:etiology* / Q000503:physiopathology; D005769:Gastrointestinal Motility; D020022:Genetic Predisposition to Disease; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications*; D018908:Muscle Weakness / Q000209:etiology; D009886:Ophthalmoplegia / Q000209:etiology