一名42岁的妇女在我们医院就诊,患有急性失语症和单词查找困难。她没有瘫痪或共济失调。线粒体肌病,脑病,乳酸性酸中毒,和中风样发作(MELAS)是根据脑MRI发现的双侧颞叶皮质水肿性病变与血管区域不匹配而诊断的,血液和脑脊液中乳酸和丙酮酸水平升高,和mtDNA3243A>G突变的存在。从她来访前六个月开始,她有持续性厌食症,腹胀,恶心和呕吐,和体重下降到25公斤。我们诊断为与MELAS相关的慢性假性肠梗阻(CIPO),因为胃肠病学家以前诊断她患有与结肠功能障碍相关的巨结肠。通常,CIPO通常与MELAS的慢性期有关。然而,从疾病的早期开始,偶尔会遇到PO并发症,在不明原因CIPO的鉴别诊断中有必要包括线粒体疾病。
A 42-year-old woman presented at our hospital with acute paraphasia and word finding difficulty. She was not paralyzed or ataxic. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) was diagnosed based on brain MRI finding of edematous lesions in bilateral temporal lobe cortexes that did not match the vascular territory, elevated lactate and pyruvate levels in blood and cerebrospinal fluid, and the presence of a mtDNA 3243A>G mutation. From six months before her visit, she had persistent anorexia, bloating, nausea and vomiting, and weight loss to 25 kg. We diagnosed her condition as chronic intestinal pseudo-obstruction (
CIPO) associated with MELAS, because a gastroenterologist had previously diagnosed her with megacolon associated with colonic dysfunction. Usually,
CIPO is often associated with the chronic phase of MELAS. However, since
CIPO complication from the early stage of the disease is occasionally encountered, it is necessary to include mitochondrial disease in differential diagnosis of
CIPO of unknown cause.