ISSN - 0973-0958
   
 
Kearns-Sayre Syndrome Misdiagnosed as Myasthenia Gravis
Krishna Chaitanya1, Archana Addanki1, Nisha Deshpande2, Rajesh Badani3.
1Department of Pediatrics, Aditya Birla Memorial Hospital, Pune, India, 2Department of Pediatric Neurology, Aditya Birla Memorial Hospital, Pune, India, 3Department of Pediatric Cardiology, Aditya Birla Memorial Hospital, Pune, India.
 
Abstract

Kearns-Sayre syndrome is a rare mitochondrial deletion syndrome characterized by triad of cardiac conduction defects, chronic progressive external ophthalmoplegia and pigmentary retinopathy. We present a 15 years old child who was diagnosed and treated as myasthenia gravis for several years and currently presented with complete heart block. He was finally diagnosed as having KSS on mitochondrial genome sequencing analysis. Thus, KSS and MG are mimics and a high suspicion of KSS should be kept in patients who are diagnosed as MS and additionally have cardiac problems.
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