Farahvash Armin, Kassardjian Charles D, Micieli Jonathan A
Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Division of Neurology, Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.
Case Rep Ophthalmol. 2021 Apr 12;12(1):174-181. doi: 10.1159/000514098. eCollection 2021 Jan-Apr.
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive condition characterized by gastrointestinal dysmotility, external ophthalmoplegia, leukoencephalopathy, and sensorimotor neuropathy. A 31-year-old man was referred for a 1-year history of horizontal diplopia related to a large exotropia from chronic progressive external ophthalmoplegia. MRI revealed a diffuse leukoencephalopathy and his 3-year history of chronic intermittent diarrhea, cachexia, and diffuse sensory more than motor peripheral neuropathy led to a unifying clinical diagnosis of MNGIE. This was later confirmed with genetic testing, which revealed a homozygous pathogenic mutation in the thymidine phosphorylase (TYMP) gene. His younger brother had an identical clinical syndrome and was similarly diagnosed. MNGIE diagnosis is important to establish to avoid unnecessary invasive testing for gastrointestinal, ophthalmological, and neurological symptoms and to ensure patients receive appropriate nutritional and genetic counselling. Gene therapy offers a potential future therapy for patients with this condition.
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，其特征为胃肠动力障碍、眼外肌麻痹、白质脑病和感觉运动神经病。一名31岁男性因慢性进行性眼外肌麻痹导致的大度数外斜视伴水平复视1年病史前来就诊。磁共振成像（MRI）显示弥漫性白质脑病，其3年慢性间歇性腹泻、恶病质以及以感觉为主而非运动为主的弥漫性周围神经病病史，导致了MNGIE的统一临床诊断。这一诊断后来通过基因检测得到证实，检测发现胸苷磷酸化酶（TYMP）基因存在纯合致病性突变。他的弟弟有相同的临床综合征，也得到了类似的诊断。确立MNGIE诊断很重要，可避免对胃肠、眼科和神经症状进行不必要的侵入性检查，并确保患者获得适当的营养和遗传咨询。基因治疗为患有这种疾病的患者提供了一种潜在的未来治疗方法。
