Kučerová Lenka, Dolina Jiří, Dastych Milan, Bartušek Daniel, Honzík Tomáš, Mazanec Jan, Kunovský Lumír
Department of Gastroenterology, University Hospital Bohunice, Brno, Czech Republic.
Department of Radiology, University Hospital Bohunice, Brno, Czech Republic.
J Gastrointestin Liver Dis. 2018 Sep;27(3):321-325. doi: 10.15403/jgld.2014.1121.273.kuc.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by a mutation in the TYMP gene encoding thymidine phosphorylase. MNGIE causes gastrointestinal and neurological symptoms in homozygous individuals and is often misdiagnosed as anorexia nervosa, inflammatory bowel disease, or celiac disease. We present the case of a 26-year-old female with MNGIE, who was initially diagnosed with anorexia nervosa and Crohn's disease. The diagnosis of MNGIE was established by biochemical confirmation of elevated serum and urine thymidine and deoxyuridine levels after multiple examinations and several years of disease progression and ineffective treatment. Subsequent molecular genetic testing demonstrated a homozygous TYMP gene mutation. MNGIE should be considered in patients with unexplained malnutrition, intestinal dysmotility, and atypical neurological symptoms.
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，由编码胸苷磷酸化酶的TYMP基因突变引起。MNGIE在纯合个体中会引发胃肠道和神经系统症状，常被误诊为神经性厌食症、炎症性肠病或乳糜泻。我们报告一例26岁患有MNGIE的女性病例，她最初被诊断为神经性厌食症和克罗恩病。经过多次检查、数年病情进展及无效治疗后，通过生化确认血清和尿液中胸苷和脱氧尿苷水平升高，从而确诊为MNGIE。随后的分子遗传学检测显示存在纯合的TYMP基因突变。对于有不明原因营养不良、肠道动力障碍和非典型神经系统症状的患者，应考虑MNGIE的可能性。
