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Neuropediatrics 1987; 18(4): 200-204
DOI: 10.1055/s-2008-1052480
© Georg Thieme Verlag KG Stuttgart · New York

The Syndrome of Myoclonic Epilepsy with Ragged-Red Fibers. Report of a Case and Review of the Literature

M.T.  Garcia Silva , J.  Aicardi , F.  Goutières , J. J. Chevrie
  • Hôpital des Enfants Malades, 149 Rue de Sèvres, F-75743 Paris Cedex 15, France
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

A patient with intention and action myoclonus, epilepsy, ataxia, and mental deterioration in association with raggedred fibers in striated muscle is described. This patient demonstrated a unique form of erratic myoclonus with continuous EEG spike activity during eye closure. Both the myoclonus and the EEG spiking disappeared on opening the eyes. A defect in the activity of complex I in the respiratory chain was demonstrated.

Key words

Mitochondrial encephalomyopathy - Myoclonus - Epilepsy