Kearns-Sayre syndrome and complex II deficiency.

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 microscopy 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.

journal_name

Neurology

journal_title

Neurology

authors

Rivner MH,Shamsnia M,Swift TR,Trefz J,Roesel RA,Carter AL,Yanamura W,Hommes FA

doi

10.1212/wnl.39.5.693

subject

Has Abstract

pub_date

1989-05-01 00:00:00

pages

693-6

issue

5

eissn

0028-3878

issn

1526-632X

journal_volume

39

pub_type

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