Manski Scott Adam, Adkins Christopher, Smith Colin, Blair Brian
Division of Gastroenterology, Department of Medicine, Thomas Jefferson University Hospital, Philadelphia, PA.
Department of Gastroenterology, Jefferson Health New Jersey, Cherry Hill, NJ.
ACG Case Rep J. 2022 May 9;9(5):e00777. doi: 10.14309/crj.0000000000000777. eCollection 2022 May.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease due to mutations in the thymidine phosphorylase gene, leading to mitochondrial alterations and dysfunctions in oxidative phosphorylation. MNGIE is a multisystem disorder with gastrointestinal symptoms arising in large part from gut dysmotility and neurological manifestations including peripheral neuropathy. We discuss a patient with chronic vomiting, diarrhea, and weight loss with a prior unrevealing extensive workup who was hospitalized for severe protein-calorie malnutrition. The patient was found to have gastrointestinal dysmotility on a gastric emptying scan and persistently elevated lactate levels and was subsequently diagnosed with MNGIE after confirmatory testing.
线粒体神经胃肠性脑肌病（MNGIE）是一种罕见的常染色体隐性疾病，由胸苷磷酸化酶基因突变引起，导致线粒体改变及氧化磷酸化功能障碍。MNGIE是一种多系统疾病，其胃肠道症状主要源于肠道动力障碍，神经系统表现包括周围神经病变。我们讨论了一名患有慢性呕吐、腹泻和体重减轻的患者，此前进行了全面检查但未明确病因，因严重蛋白质 - 热量营养不良住院。该患者在胃排空扫描中发现有胃肠道动力障碍，乳酸水平持续升高，经确诊检测后被诊断为MNGIE。
