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Kearns-Sayre syndrome and complex II deficiency

Department of Neurology, Medical College of Georgia, Augusta, GA (Drs. Rivner, Shamanin, and Swift, and Mrs. Trefz)
Cell and Molecular Biology, Medical College of Georgia, Augusta, GA (Drs. Roesel, Carter, and Hommes)
Institute of Molecular Biology, University of Oregon, Eugene, OR. (Dr. Yanamura)

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.

Address correspondence and reprint requests to Dr. Rivner, Neurology/EMG Lab (BAA-3351, Medical College of Georgia, Augusta, GA 30912-3215.

Presented in part at the fortieth annual meeting of the American Academy of Neurology, Cincinnati, OH, April 1988.

Received June 5, 1987. Accepted for publication in final form November 3, 1988.

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