Morphologic and metabolic studies in a case of oculo-cranimo-somatic neuromuscular disease

Guglielmo Scarlato, Giulio Pellegrini, Arsenio Veicsteinas

Research output: Contribution to journalArticle

Abstract

A case resembling the syndrome of “ophthalmoplegia plus” or “oculocranio-somatic neuromuscular disease” is reported. A biopsy of deltoid muscle showed that 23% of the fibers were “ragged-red fibers” and were all type 1. Study of their ultrastructure revealed clusters of abnormal skeletal muscle mitochondria in subsarcolemmal and intermyofibrillar spaces. A liver biopsy also revealed a considerable increase in the number and size of the mitochondria. In some instances the mitochondria contained osmiophilic rounded inclusions surrounded by myelin-like structures. Metabolic studies revealed an increase of blood lactate concentration after very light exercise, while the O2 consumption was increased within the expected range. It is concluded that: a) the association of opthalmoplegia and ultrastructural alterations of the mitochondria in muscle fibers may represent a specific nosographic entity; b) mitochondrial abnormalities are not limited to the skeletal muscles and c) the dysmetabolic basis of such a clinico-pathological entity might lie in an alteration of the mechanism which regulates the mitochondrial oxidative phosphorylation.

Original languageEnglish
Pages (from-to)1-12
Number of pages12
JournalJournal of Neuropathology and Experimental Neurology
Volume37
Issue number1
Publication statusPublished - 1978

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Cellular and Molecular Neuroscience
  • Neurology
  • Neuroscience(all)

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