title: Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. We aimed to raise awareness in radiologists regarding this difficult-to-diagnose syndrome, which occurs in the presence of coexistent gastrointestinal dysmotility, cachexia, and neurologic manifestations. We report imaging and clinical findings of three patients with MNGIE. Our findings indicate that early diagnosis of the disease, together with the timely treatment of acute intercurrent illnesses, may retard the progression of MNGIE.
authors.affiliation: Department of Radiology, Başkent University School of Medicine, Konya, Turkey. drgokcencoban@gmail.com
authors.forename: Gökçen
authors.initials: G
authors.lastname: Çoban
authors.forename: Savaş
authors.initials: S
authors.lastname: Göktürk
authors.forename: Erkan
authors.initials: E
authors.lastname: Yildirim
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Çalışkan
authors.forename: Bahriye
authors.initials: B
authors.lastname: Horasanli
authors.forename: Hatice Aysun
authors.initials: HA
authors.lastname: Akça
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004576:Electromyography / Q000379:methods; D016145:Endoscopy, Digestive System / Q000379:methods; D005260:Female; D034381:Hearing Loss / Q000150:complications; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D007770:L-Lactate Dehydrogenase; D007962:Leukocytes; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D018908:Muscle Weakness / Q000150:complications; D039141:Muscular Dystrophy, Oculopharyngeal; D009886:Ophthalmoplegia / Q000151:congenital; D010289:Parenteral Nutrition, Total / Q000379:methods; D013577:Syndrome; D055815:Young Adult; D028361:Mitochondrial Diseases
chemical_list: D007770:L-Lactate Dehydrogenase