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Acta Neuropathologica

, Volume 74, Issue 3, pp 248–258 | Cite as

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

A new mitochondrial multisystem disorder
  • A. Bardosi
  • W. Creutzfeldt
  • S. DiMauro
  • K. Felgenhauer
  • R. L. Friede
  • H. H. Goebel
  • A. Kohlschütter
  • G. Mayer
  • G. Rahlf
  • S. Servidei
  • G. Van Lessen
  • T. Wetterling
Regular Papers

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.

Key words

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE) syndrome Cytochrome-c-oxidase 

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • A. Bardosi
    • 1
  • W. Creutzfeldt
    • 4
  • S. DiMauro
    • 5
  • K. Felgenhauer
    • 2
  • R. L. Friede
    • 1
  • H. H. Goebel
    • 6
  • A. Kohlschütter
    • 7
  • G. Mayer
    • 4
  • G. Rahlf
    • 3
  • S. Servidei
    • 5
  • G. Van Lessen
    • 3
  • T. Wetterling
    • 2
  1. 1.Abteilungen NeuropathologieUniversität GöttingenGöttingenFederal Republic of Germany
  2. 2.Abteilungen NeurologieUniversität GöttingenGöttingenFederal Republic of Germany
  3. 3.Abteilungen PathologieUniversität GöttingenGöttingenFederal Republic of Germany
  4. 4.Abteilungen Innere MedizinUniversität GöttingenGöttingenFederal Republic of Germany
  5. 5.H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related DiseasesColumbia University College of Physicians and SurgeonsNew YorkUSA
  6. 6.Abteilung für NeuropathologieUniversität MainzMainzFederal Republic of Germany
  7. 7.Universitäts-KinderklinikHamburgFederal Republic of Germany

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