Kearns-Sayre syndrome and complex II deficiency

M. H. Rivner, M. Shamsnia, T. R. Swift, J. Trefz, R. A. Roesel, A. L. Carter, W. Yanamura, F. A. Hommes

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microacopy showed increased numbers of mitochondria with disordered structure and paracrystalline inclusions. Enzymatic analysis revealed a deficiency of complex II of the mitochondrial respiratory chain, and, more specifically, a deficiency of succinic dehydrogenase, although both subunits of this enzyme proved to be present by immunologic analysis. Therapy with vitamin cofactors did not result in short-term improvement. This appears to be the first report of complex II deficiency in a patient with KSS.

Original languageEnglish (US)
Pages (from-to)693-696
Number of pages4
Issue number5
StatePublished - May 1989

ASJC Scopus subject areas

  • Clinical Neurology


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