MELAS of infantile onset: mitochondrial angiopathy or cytopathy?

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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.

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    The mitochondrial changes have been found readily in the muscle biopsies and post-mortem brains of patients with MELAS, KSS, and CPEO; not only in the endothelial cells but also in the pericytes and smooth muscle cells of small blood vessels, as well as Schwann cells of the nerve biopsies (Molnar et al., 1995; Coquet et al., 1993; Schröder and Sommer, 1991; Sakuta and Nonaka, 1989). An autopsy case study in an 83-day-old male infant with MELAS revealed the muscle MA, as well as abnormal mitochondria also in the skin endothelial cells with degeneration, myelinated nerves with vacuolated axons, and the myocardium but not in the coronary vessels (Fujii et al., 1991). Therefore, it seems that MA is associated with MM and MN; however, it is still unclear how these mitochondrial changes in the muscle, nerve, and blood vessels presumably with the congruent etiology of MID interplay or contribute to each other, and the role of MA in neurogenic changes in MM (usually with limited ischemic changes in the muscle unlike the brain in MELAS) deserves further investigation.

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