Department of Radiology, Başkent University School of Medicine, Konya, Turkey.
Diagn Interv Radiol. 2013 May-Jun;19(3):191-4. doi: 10.5152/dir.2013.008.
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.
线粒体神经胃肠型脑肌病（MNGIE）是一种罕见的多系统常染色体隐性遗传病，其特征为眼睑下垂、胃肠动力障碍、恶病质、周围神经病和脑白质病。我们旨在提高放射科医生对这种难以诊断的综合征的认识，这种综合征在同时存在胃肠动力障碍、恶病质和神经表现的情况下发生。我们报告了三例 MNGIE 患者的影像学和临床发现。我们的发现表明，早期诊断该疾病，并及时治疗急性并发疾病，可能会延缓 MNGIE 的进展。
