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Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

A new mitochondrial multisystem disorder

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Summary

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.

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Authors and Affiliations

  1. Abteilungen Neuropathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany

    A. Bardosi & R. L. Friede

  2. Abteilungen Neurologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany

    K. Felgenhauer & T. Wetterling

  3. Abteilungen Pathologie, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany

    G. Rahlf & G. Van Lessen

  4. Abteilungen Innere Medizin, Universität Göttingen, Robert-Koch-Strasse 40, D-3400, Göttingen, Federal Republic of Germany

    W. Creutzfeldt & G. Mayer

  5. H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, USA

    S. DiMauro & S. Servidei

  6. Abteilung für Neuropathologie, Universität Mainz, D-6500, Mainz, Federal Republic of Germany

    H. H. Goebel

  7. Universitäts-Kinderklinik, D-2000, Hamburg, Federal Republic of Germany

    A. Kohlschütter

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  1. A. Bardosi
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  2. W. Creutzfeldt
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  3. S. DiMauro
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  4. K. Felgenhauer
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  5. R. L. Friede
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  6. H. H. Goebel
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  7. A. Kohlschütter
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  8. G. Mayer
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  9. G. Rahlf
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  10. S. Servidei
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  11. G. Van Lessen
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  12. T. Wetterling
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Bardosi, A., Creutzfeldt, W., DiMauro, S. et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. Acta Neuropathol 74, 248–258 (1987). https://doi.org/10.1007/BF00688189

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  • DOI: https://doi.org/10.1007/BF00688189

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