Kearns-Sayre syndrome (KSS) is one of the three classic and overlapping phenotypes that result from simplex mitochondrial DNA (mtDNA) deletion syndromes. The rarity of the syndrome has led to a paucity of reported cases in the literature. We present the case of a young female who presented with drooping of her right eyelid, generalized muscle wasting, fatigability of the proximal muscles of her limbs, a nasal twang in her voice, bilateral progressive ophthalmoplegia, and a history of surgically correct ptosis of her left eyelid.
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