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.