Infantile mitochondria encephalomyopathies: Report on 4 cases

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

Research output: Contribution to journalArticlepeer-review

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

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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