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Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.

Abstract
We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.
AuthorsA Federico, F Cornelio, S Di Donato, E Ederli, G M Fabrizi, L Manneschi, G C Guazzi
JournalItalian journal of neurological sciences (Ital J Neurol Sci) Vol. 9 Issue 1 Pg. 65-71 (Feb 1988) ISSN: 0392-0461 [Print] Italy
PMID3356526 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Lactates
  • Lactic Acid
  • NADH Dehydrogenase
Topics
  • Adolescent
  • Basal Ganglia Diseases (enzymology, pathology)
  • Calcinosis (enzymology, pathology)
  • Epilepsy (enzymology, pathology)
  • Humans
  • Lactates (blood)
  • Lactic Acid
  • Male
  • Mitochondria, Muscle (enzymology, ultrastructure)
  • Myoclonus (enzymology, pathology)
  • NADH Dehydrogenase (metabolism)

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