背景线粒体神经胃肠脑病综合征(MNGIE)是一种由胸苷磷酸化酶缺乏导致进行性胃肠动力障碍的常染色体隐性遗传疾病,恶病质,上睑下垂,眼瘫,周围神经病变和白质脑病。尽管肝移植可以纠正胸苷磷酸化酶缺乏症,肠缺乏的酶持续存在。进行回顾性图表审查以获得临床,生物化学,和病理细节。病例报告我们介绍了一例28岁的MNGIE综合征伴胃肠动力障碍的人的肝脏和随后的肠道移植病例,不能走路,白质脑病,上睑下垂,恶病质,血清胸苷水平升高.为了阻止神经功能缺损的进展,他首先接受了左叶部分肝移植。尽管他的运动障碍有所改善,胃肠动力障碍持续存在,需要全胃肠外营养。彻底的肠道康复后,他被列入肠道移植名单.肝移植后两年半,他接受了肠道移植.在肝移植后4年和肠道移植后20个月,他仍然没有肠胃外营养,体重正在缓慢增加。结论这是首例成功进行顺序肝肠移植的线粒体神经胃肠肌病病例。
BACKGROUND Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to progressive gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Although liver transplantation corrects thymidine phosphorylase deficiency, intestinal deficiency of the enzyme persists. Retrospective chart review was carried out to obtain clinical, biochemical, and pathological details.
CASE REPORT We present a
case of liver and subsequent intestine transplant in a 28-year-old man with MNGIE syndrome with gastrointestinal dysmotility, inability to walk, leukoencephalopathy, ptosis, cachexia, and elevated serum thymidine. To halt progression of neurologic deficit, he first received a left-lobe partial liver transplantation. Although his motor deficit improved, gastrointestinal dysmotility persisted, requiring total parenteral nutrition. After exhaustive intestinal rehabilitation, he was listed for intestine transplantation. Two-and-half years after liver transplantation, he received an intestine transplant. At 4 years after LT and 20 months after the intestine transplant, he remains off parenteral nutrition and is slowly gaining weight. CONCLUSIONS This is the first reported
case of mitochondrial neurogastrointestinal encephalomyopathy to undergo successful sequential liver and intestine transplantation.