METHODS: We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations.
CONCLUSIONS: As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy.
方法:我们报告一例23岁的亚裔女性,主要主诉为上腹痛,胆汁催吐症,减肥3个月,双侧下肢无力20天。所有临床体征和症状以及相关调查,包括神经传导研究,肌电图,脑磁共振成像高度怀疑线粒体神经胃肠脑病综合征。由于资金紧张,无法进行遗传研究。患者采用涉及胃肠病学的多学科方法进行治疗,物理治疗,和营养部门。目前,该疾病的治疗选择包括异基因造血干细胞移植和携带红细胞的胸苷磷酸化酶;然而,由于某些限制,这些不能提供给患者。
结论:由于误诊和延迟诊断在本病中相当普遍,本病例报告的主要目的是增加对这种疾病的基本认识,尤其是它的体征和症状,并解决了线粒体神经胃肠脑病患者的诊断研究和管理方面的局限性。