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Mitochondrial encephalomyopathy

A variant with heart failure and liver steatosis

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Summary

We report the clinical and autopsy findings in a young man of 18 with a chronic progressive disorder comprised of lactic acidosis, mental deterioration, and epileptic seizures which were sometimes accompanied by stroke-like episodes with transient hemiparesis and cortical blindness. He died of congestive heart failure. The autopsy showed lesions of the gray matter of the brain. Both the putamen and parieto-occipital cortex showed loss of neurons and proliferation of macrophages, astrocytes and vessels. There was marked loss of neurons in the inferior olives, and slight reduction of the number of Purkinje cells. Skeletal muscle studies revealed ragged-red fibres and structurally abnormal mitochondria. The heart was enlarged: accumulations of mitochondria occurred in the muscle fibers. The liver exhibited marked fatty degeneration. Biochemical analyses showed normal activities of pyruvate dehydrogenase in thrombocytes, pyruvate carboxylase in lymphocytes, biotinidase in serum as well as succinate dehydrogenase and cytochrome c oxidase. The features of this disorder differ in many respects from cases of mitochondrial encephalomyopathy previously reported and cannot be assigned to any specific disease entity.

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Authors and Affiliations

  1. Division of Neuropathology, Department of Pathology I, Gothenburg University, Sahlgren Hospital, S-413 45, Gothenburg, Sweden

    A. Oldfors & H. Kalimo

  2. Departments of Pediatrics I and II, Gothenburg University, East Hospital, S-416 85, Gothenburg, Sweden

    M. Tulinius, B. Kristiansson & B. O. Eriksson

  3. Department of Clinical Chemistry, Gothenburg University, Sahlgren Hospital, S-413 45, Gothenburg, Sweden

    E. Holme

Authors
  1. A. Oldfors
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  2. M. Tulinius
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  3. E. Holme
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  4. H. Kalimo
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  5. B. Kristiansson
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  6. B. O. Eriksson
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Supported by grants from the First of May Flower Annual Campaign for Childrens Health and the Swedish Medical Research Council (proj no 07122)

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Oldfors, A., Tulinius, M., Holme, E. et al. Mitochondrial encephalomyopathy. Acta Neuropathol 74, 287–293 (1987). https://doi.org/10.1007/BF00688194

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  • DOI: https://doi.org/10.1007/BF00688194

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