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54歳の女性で,両眼の眼瞼下垂および全外眼筋麻痺を示して眼筋ミオパチーを呈したミトコンドリアミオパチーの1例を報告する。右眼には黄斑部を中心に近視性網脈絡膜萎縮が認められたが,網膜色素変性症の所見は両眼ともに認められず,他の眼科的,神経学的所見や心電図は正常であった。上腕二頭筋の生検でragged-red fiberを認め,電子顕微鏡では筋鞘膜下に異常なミトコンドリアの集積が認められた。運動負荷試験によって血中乳酸、ピルビン酸の異常な上昇がみられ,これは負荷後30分でもつづいていた。本症例のような外眼筋障害単独型のミトコンドリアミオパチーにおいてもミトコンドリアの好気的エネルギー代謝の異常が認められ,運動負荷試験は本症の診断に有効なスクリーニング法と考えられた。
A 54-year-old female presented with bilateral ptosis of 10 years' duration. She also manifested total external ophthalmoplegia. Neurological find-ings were normal, including pupillary light reflex. Fundus findings were normal except myopic chor-ioretinal atrophy in the right eye.
Biopsy specimens from the brachial bioceps muscle showed ragged-red fibers with modifiedGomori trichrome stain. Electron microscopy showed accumulation of enlarged mitochondria in the subsarcolemmal space with paracrystalline inclusions. The patient was diagnosed as mitochon-drial myopathy.
She manifested normal electrocardiogram and no atrio-ventricular block. An aerobic exercise test caused rapid elevation in the plasma level of lactate and pyruvate. The elevation persisted for 30 minutes after the exercise. Abnormal lactate and pyruvate metabolism was thus elicited in associa-tion with mitochondrial myopathy
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