Abstract
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 language | English (US) |
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Pages (from-to) | 693-696 |
Number of pages | 4 |
Journal | Neurology |
Volume | 39 |
Issue number | 5 |
DOIs | |
State | Published - May 1989 |
ASJC Scopus subject areas
- Clinical Neurology