Abstract：
BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials.
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.
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.
摘要：
背景：线粒体神经胃肠脑病是一种罕见的由TYMP基因突变引起的多系统常染色体隐性遗传病，编码胸苷磷酸化酶.线粒体神经胃肠脑病是一种进行性退行性疾病，其特征是胃肠动力障碍的独特四分体，周围神经病变,眼肌麻痹伴下垂，和无症状的白质脑病。由于缺乏遗传研究的可用性和相关的人口财政限制，它为巴基斯坦等地区的医生提供了诊断困境。然而,经过仔细检查和一些基本调查，线粒体神经胃肠脑病可以通过排除大多数紧密的差异来诊断。
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。
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。
