Ophthalmoplegia, pigmentary retinopathy, and abnormal cardiac conduction: A rare case of Kearns-Sayre syndrome

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.