Diagnostic and therapeutic considerations in m.3243A>G-associated chronic intestinal pseudo-obstruction

We read with interest the article by Zhang et al. about an 18-year-old female carrier of the m.3243A>G variant in the MT-TL1 gene. Clinically, the mutation manifested as MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) and chronic intestinal pseudo-obstruction (CIPO). Despite surgical (colostomy) and conservative measures (enemas, prokinetics, jejunal nutrition, mitochondrial therapy), the CIPO worsened, and the patient ultimately died of multiple organ failure. The study is promising, but some points require discussion.