Abstract |
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. Fundoscopy revealed salt-and-pepper-like retinopathy bilaterally. Her electrocardiogram (ECG) findings included an inferior infarct and a left anterior fascicular block. This case highlights the importance of multifaceted investigations and prompt diagnosis in resource-limited settings for effective management in suspected cases of KSS.
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Authors | Arsalan Nadeem, Sumayya Umar, Sohaib Rehmani, Mustafa Javaid |
Journal | eNeurologicalSci
(eNeurologicalSci)
Vol. 30
Pg. 100448
(Mar 2023)
ISSN: 2405-6502 [Electronic] Netherlands |
PMID | 36845279
(Publication Type: Case Reports)
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Copyright | © 2023 The Authors. |