Abstract
A 9 yr girl presented with bilateral ptosis and deafness of gradual onset for the last four years. Associated ophthalmoplegia and pigmentary retinopathy, heart block, raised CSF protein and serum lactate was suggestive of the diagnosis of Kearns-Sayre syndrome (KSS), a rare entity in the spectrum of the mitochondrial deletion syndrome. Search for endocrinopathy revealed no abnormality. DOI: http://dx.doi.org/10.3126/jnps.v33i1.6696 J Nepal Paediatr Soc. 2013;33(1):61-62
Highlights
Triad of chronic progressive external ophthalmoplegia (CPEO), bilateral pigmentary retinopathy, and cardiac conduction abnormalities was first described in a case report of two patients in 1958 by Thomas P
The most important prognostic factor in Kearns-Sayre syndrome (KSS) patients is the involvement of heart[1], characterized by progressive degeneration of the conducting system
In KSS, implantation of pacemaker is advised following the development of significant conduction disease, even in asymptomatic patients[1]
Summary
Triad of chronic progressive external ophthalmoplegia (CPEO), bilateral pigmentary retinopathy, and cardiac conduction abnormalities was first described in a case report of two patients in 1958 by Thomas P. In 1988, the first connection was made between Kearns-Sayre Syndrome (KSS) and large-scale deletions of muscle mitochondrial DNA (mtDNA)[2]. KSS occurs spontaneously in the majority of cases. In some cases it has been shown to be inherited through mitochondrial, autosomal dominant or autosomal recessive inheritance. The prevalence is estimated between 1and 3/100 000. We like to report a child with KSS
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