Mitochondrial neurogastrointestinal encephalomyopathy.
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.
Coşkun
Ezgi
E
Department of Internal Medicine, Ankara Dişkapi Educational and Research Hospital, Ankara, Turkey. drezgi-76@hotmail.com
Ulusal
Gülay
G
Bulut
Nilüfer
N
Bektaş
Hesna
H
Oztekin
M Fevzi
MF
Yildirim
I Safa
IS
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