Mitochondrial encephalomyopathy with chronic intestinal pseudo-obstruction

An 18-year-old female with a known history of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) secondary to the MT-TL1 m.3243A>G mutation, presented with recurrent abdominal distension, vomiting, and failure to pass stool. Previous neuroimaging revealed symmetrical signal abnormalities in the cerebellum, brainstem, and cerebral hemispheres. Persistent diffuse bowel dilation on abdominal studies led to a diagnosis of chronic intestinal pseudo-obstruction (CIPO). A previous colostomy failed to relieve symptoms. Conservative management, including prokinetics, enemas, and jejunal feeding, provided limited benefit. During hospitalization, she developed recurrent intestinal obstruction, infections, metabolic acidosis, and acute kidney injury. Despite aggressive supportive care, infection control, and mitochondrial cocktail therapy (CoQ10, L-carnitine, B vitamins), her condition deteriorated. She progressed to multiple organ failure and died from severe metabolic acidosis and cardiorespiratory arrest.