title: MELAS of infantile onset: mitochondrial angiopathy or cytopathy?
abstract: An 83-day-old male infant had convulsions, hypertrophic cardiomyopathy, and lactic acidosis. Cranial computed tomography revealed low-density areas in both parieto-occipital lobes and in the left temporal lobe. Muscle biopsy did not reveal ragged-red fibers, but abnormal mitochondria were found in the capillary endothelial cells as well as in the muscle fibers. At 5 months of age, the patient developed purpura on the soles and palms. Skin biopsy showed degeneration of the endothelial cells with abnormal mitochondria in the arterioles and capillaries. Myelinated nerves in the skin had vacuolated axons with swollen mitochondria, and their myelin sheaths showed vacuolation. At 9 months of age, he died of heart failure, and autopsy revealed abnormal mitochondria in the myocardium but not in the coronary vessels. Our findings indicate that the symptoms of the mitochondrial encephalopathy, myopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome cannot be fully explained by the mitochondrial angiopathy alone.
authors.affiliation: Department of Pediatrics, Kyoto University, Faculty of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: T
authors.initials: T
authors.lastname: Okuno
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: K
authors.initials: K
authors.lastname: Mutoh
authors.forename: Y
authors.initials: Y
authors.lastname: Horiguchi
authors.forename: H
authors.initials: H
authors.lastname: Tashiro
authors.forename: H
authors.initials: H
authors.lastname: Mikawa
mesh_terms: D000140:Acidosis, Lactic / Q000473:pathology*; D001927:Brain Diseases / Q000473:pathology*; D002196:Capillaries / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000473:pathology*; D004730:Endothelium, Vascular / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008928:Mitochondria / Q000648:ultrastructure*; D008933:Mitochondrial Swelling; D009132:Muscles / Q000098:blood supply / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology*; D012867:Skin / Q000098:blood supply / Q000294:innervation / Q000473:pathology; D013577:Syndrome