Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction.

中文翻译：

---

一种新的剪接位点突变导致线粒体神经胃肠道脑病伴肠假性梗阻。

线粒体神经胃肠道脑病（MNGIE）是一种常染色体隐性遗传疾病，其特征是胃肠道动力障碍，恶病质，上睑下垂，周围神经病和白脑病。通常要到症状发作后5-10年才能做出诊断。MNGIE是由胸苷磷酸化酶基因TYMP的突变引起的。在这里，我们介绍了一个19岁的MNGIE男孩，他患有慢性肠假性梗阻，并描述了他的家族史。遗传分析揭示了一种新的纯合的c.765 + 1G> C内含子突变，有望破坏患者中TYMP的剪接。家庭筛查表明，兄弟也受到了影响，母亲是携带者。