"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome

F. Cornelio, S. Di Donato, D. Testa, M. Mora, G. Gori, D. Peluchetti, M. Rimoldi

Research output: Contribution to journalArticlepeer-review

Abstract

A 13-year-old boy with a mild limb girdle muscular weakness had a massive rhabdomyolosis and cardiac arrest after general anesthesia. A congestive cardiomyopathy then developed. Muscle biopsy reveled an unspecific «myopathic» degeneration of muscle fibers and a slight accumulation of lipid droplets. Carnitine content was markedly reduced in muscle and moderately in plasma. Both prednisone and carnitine therapies were unable to improve the heart insufficiency, and the patient died 1 year after the acute episode of rhabdomyolysis.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
JournalItalian Journal of Neurological Sciences
Volume1
Issue number1
DOIs
Publication statusPublished - Feb 1979

Keywords

  • Anesthesia
  • Cardiomyopathy
  • Carnitine Deficiency
  • Myopathy
  • Rhabdomyolysis

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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