Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients

Gokcen Coban, Savas Gokturk, Erkan Yildirim, Zuhal Caliskan, Bahriye Horasanli, Hatice Aysun Akca
2012 Diagnostic and Interventional Radiology  
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
more » ... e 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.
doi:10.5152/dir.2013.008 pmid:23302282 fatcat:pqjv6bsap5cezgbhe6z3h7cwgy