Infantile mitochondria encephalomyopathies: Report on 4 cases

Ornella Pastoris, Maurizia Dossena, Roberto Scelsi, Salvalore Savasta, Elena Bianchi

Research output: Contribution to journalArticle

Abstract

Four muscle biopsies from the quadriceps femoris muscle of children with symptoms suggesting mitochondrial encephalomyopathy were examined for morphological and biochemical differences. From a biochemical point of view, our patients showed a derangement of mitochondrial metabolism and in particular a marked deficit in the activity of cytochrome c oxidase. In all patients there was an abnormally high rise of lactate and pyruvic acid levels in blood before and after glucose loading. Results of morphological and enzyme histochemical studies showed smaller muscle fibre diameters than in normal children. Typical red ragged fibres and ultrastructural abnormalities in muscle mitochondria were present in 1 case only. Three patients showed focal changes in the distribution of some sarcoplasmic oxidative enzyme activities. The present findings suggest that the main metabolic disorder, pointed out by biochemical studies, is scarcely reflected by morphological and ultrastructural studies in the early stages of mitochondriopathies.

Original languageEnglish
Pages (from-to)54-61
Number of pages8
JournalEuropean Neurology
Volume33
Issue number1
DOIs
Publication statusPublished - 1993

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Mitochondria
Quadriceps Muscle
Mitochondrial Encephalomyopathies
Muscle Mitochondrion
Muscles
Electron Transport Complex IV
Enzymes
Pyruvic Acid
Lactic Acid
Biopsy
Glucose

Keywords

  • Enzyme activities
  • Light and electron microscopy
  • Mitochondrial encephalomyopathy
  • Skeletal muscle metabolism

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Infantile mitochondria encephalomyopathies : Report on 4 cases. / Pastoris, Ornella; Dossena, Maurizia; Scelsi, Roberto; Savasta, Salvalore; Bianchi, Elena.

In: European Neurology, Vol. 33, No. 1, 1993, p. 54-61.

Research output: Contribution to journalArticle

Pastoris, O, Dossena, M, Scelsi, R, Savasta, S & Bianchi, E 1993, 'Infantile mitochondria encephalomyopathies: Report on 4 cases', European Neurology, vol. 33, no. 1, pp. 54-61. https://doi.org/10.1159/000116902
Pastoris, Ornella ; Dossena, Maurizia ; Scelsi, Roberto ; Savasta, Salvalore ; Bianchi, Elena. / Infantile mitochondria encephalomyopathies : Report on 4 cases. In: European Neurology. 1993 ; Vol. 33, No. 1. pp. 54-61.
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