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We report a case of Kearns-Shy syndrome in a 44-year-old woman. She complained of bilateral ptosis, exotropia and gait disturbance. Diffuse chorioretinal degeneration and numerous punctate whitish spots were observed in both fundi. Eye movements were severely disturbed. An electroretinogram was almost nonrecordable, while visually evoked cortical potentials to pattern stimulation were normal. The dark adaptation curve showed an elevation of rod threshold. Besides such ophthalmological findings, muscle weakness, extinguished tendon reflex and healing difficulty were observed. Blood lactate, pyruvic acid and serum creatinine kinase were at high levels. A muscle biopsy showed ragged-red fibers and partial deficiency of cytochrome c oxidase. The patient is being treated with coenzyme Q, and we are now following up the therapeutic effects of this treatment.
Y Tsuyama, and
E Adachi-Usami, and
N Takeda
January 1979,
Clinical neurology and neurosurgery,
Y Tsuyama, and
E Adachi-Usami, and
N Takeda
August 1979,
Rinsho shinkeigaku = Clinical neurology,
Y Tsuyama, and
E Adachi-Usami, and
N Takeda
April 1983,
Rinsho shinkeigaku = Clinical neurology,
Y Tsuyama, and
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November 1977,
No to shinkei = Brain and nerve,
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Y Tsuyama, and
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No to hattatsu = Brain and development,
Y Tsuyama, and
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October 1985,
Rinsho shinkeigaku = Clinical neurology,
Y Tsuyama, and
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July 1975,
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine,
Y Tsuyama, and
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N Takeda
January 1984,
Brain & development,
Y Tsuyama, and
E Adachi-Usami, and
N Takeda
May 1991,
Rinsho shinkeigaku = Clinical neurology,
