Late-onset mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes with chronic intestinal pseudo-obstruction: a case-based review

Abstract

Background Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes (MELAS) is rare in people over 40 years of age, and gastrointestinal complications of MELAS are also rare, especially Chronic Intestinal Pseudo-Obstruction (CIPO). Case Presentation This report describes a 60 years old MELAS patient with a mutation rate of only 6.29% in the m.3243A>G gene, accompanied by CIPO. After treatment, MELAS symptoms can be controlled, but intestinal obstruction recurs and worsens. At present, patients fast and rely on intravenous nutrition to sustain their lives. Discussion The low proportion of m.3243A>G mutations in patients may be related to their advanced age, but the high or low proportion of gene mutations detected in blood samples is not related to the severity of symptoms. MELAS combined with CIPO is rare and different from other intestinal obstructions. CIPO has no cause of mechanical intestinal obstruction and may be related to dysfunction of smooth muscle mitochondria or involvement of the enteric nervous system. Conclusion For complications of MELAS beyond the nervous system, early consideration should be given to the possibility of MELAS. Early genetic testing has important clinical significance for the treatment and prognosis of patients. This article will provide a literature review on the multi system performance of MELAS.