Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology

A 67-year-old woman had frequent subacute ileus, hearing difficulty, muscle atrophy and stroke-like episodes. Computed tomography revealed multiple lo w-density areas, which did not correlate with the vascular supply, in the c erebral cortex. She had metabolic disturbance comprising lactic acidosis an d elevated pyruvate level. Her skeletal muscle biopsy specimen showed ragge d-red fibers, and mitochondrial DNA analysis revealed a point mutation at p osition 3243, findings consistent with MELAS. Examination of her small inte stine revealed a necrotic zone and numerous abnormal large mitochondria in the smooth muscle cells, vascular media and endothelium, and intestinal gan glion cells. The cerebral cortex showed multiple microcystic necrotic foci in cerebral cortex. Cactus-like pathology resembling the changes associated with Menkes' kinky hair disease and torpedoes were observed in the cerebel lar Purkinje cells. The intestinal dysmotility due to MELAS and cerebellar changes were presumed to be associated with a disturbance of copper metabol ism.